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<meta name="keywords" content="C1838979, complex 1 mitochondrial respiratory chain deficiency, complex i deficiency, disease or syndrome, isolated complex i deficiency, isolated mitochondrial respiratory chain complex i deficiency, isolated nadh-coenzyme q reductase deficiency, isolated nadh-coq reductase deficiency, isolated nadh-ubiquinone reductase deficiency, mc1dn1, mitochondrial complex i deficiency, mitochondrial complex i deficiency, nuclear type 1, mitochondrial nadh dehydrogenase component of complex i, deficiency of, mitochondrial respiratory chain complex i deficiency, nadh - nicotinamide adenine dinucleotide coenzyme q reductase deficiency, nadh coenzyme q reductase deficiency, nadh-coenzyme q reductase deficiency, nadh:q(1) oxidoreductase deficiency, nicotinamide adenine dinucleotide coenzyme q reductase deficiency, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Isolated complex I deficiency is a rare inborn error of metabolism due to mutations in nuclear or mitochondrial genes encoding subunits or assembly factors of the human mitochondrial complex I (NADH: ubiquinone oxidoreductase) and is characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome (see these terms)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=374101
|
||
ConceptID=C1838979
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Mitochondrial complex I deficiency<span class="h1sub">(MC1DN1)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>374101</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1838979</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Complex 1 mitochondrial respiratory chain deficiency; Mitochondrial Respiratory Chain Complex I Deficiency; NADH coenzyme Q reductase deficiency; NADH:Q(1) OXIDOREDUCTASE DEFICIENCY</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency (237988006); Complex I deficiency (237988006); NADH - Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency (237988006); Mitochondrial complex I deficiency (237988006)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0441748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
|
||
<div class="divPopper rprt" id="moi_165802"><div><strong>Mitochondrial inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>165802</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0887941</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Genetic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on the mitochondrial genome. Because the mitochondrial genome is essentially always maternally inherited, a mitochondrial condition can only be transmitted by females, although the condition can affect both sexes. The proportion of mutant mitochondria can vary (heteroplasmy).</div></div>
|
||
<div class="divPopper rprt" id="moi_376232"><div><strong>X-linked dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376232</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1847879</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/376232">This record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_165802" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial inheritance</a><span> (Orphanet)</span></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_376232" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked dominant inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help" data-jig="ncbipopper" href="#target-gene-related">Related gene:<img src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div id="target-gene-related" class="display-none">
|
||
Gene(s) associated with related conditions. For conditions<br />
|
||
in a hierarchy, the parent condition will list the genes<br />
|
||
associated with the children conditions.</div></td>
|
||
<td><a target="_blank" href="/gene/4724">NDUFS4</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0100133" target="_blank">MONDO:0100133</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/252010" target="_blank">252010</a>; <a href="https://omim.org/entry/516001" target="_blank">516001</a>; <a href="https://omim.org/entry/516003" target="_blank">516003</a>; <a href="https://omim.org/entry/602694" target="_blank">602694</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2609">ORPHA2609</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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||
<div class="portlet mgSection" id="ID_100">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Isolated complex I deficiency is a rare inborn error of metabolism due to mutations in nuclear or mitochondrial genes encoding subunits or assembly factors of the human mitochondrial complex I (NADH: ubiquinone oxidoreductase) and is characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome (see these terms). [from <a title="Orphanet Rare Disease Ontology (ORDO)" href="http://www.orphadata.org/cgi-bin/inc/ordo_orphanet.inc.php" class="defSource" target="_blank">ORDO</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_603270"><div><strong>Exercise intolerance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>603270</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0424551</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A functional motor deficit where individuals whose responses to the challenges of exercise fail to achieve levels considered normal for their age and gender.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/603270">Feature record</a> | <a href="/medgen?term=%22Exercise%20intolerance%22%5BClinical%20Features%5D%20OR%20603270%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_163083"><div><strong>Hypospadias</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>163083</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0848558</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/163083">Feature record</a> | <a href="/medgen?term=%22Hypospadias%22%5BClinical%20Features%5D%20OR%20163083%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_870283"><div><strong>3-hydroxydicarboxylic aciduria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>870283</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4024725</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The concentration of 2-hydroxydicarboxylic acid in the urine, normalized for urine concentration, is above the upper limit of normal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/870283">Feature record</a> | <a href="/medgen?term=%223-hydroxydicarboxylic%20aciduria%22%5BClinical%20Features%5D%20OR%20870283%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_871116"><div><strong>Lacticaciduria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>871116</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4025585</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increased concentration of lactic acid in the urine.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/871116">Feature record</a> | <a href="/medgen?term=%22Lacticaciduria%22%5BClinical%20Features%5D%20OR%20871116%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_2881"><div><strong>Hypertrophic cardiomyopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2881</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0007194</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/2881">Feature record</a> | <a href="/medgen?term=%22Hypertrophic%20cardiomyopathy%22%5BClinical%20Features%5D%20OR%202881%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_68651"><div><strong>Concentric hypertrophic cardiomyopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>68651</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0238044</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypertrophic cardiomyopathy with an symmetrical and concentric pattern of hypertrophy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/68651">Feature record</a> | <a href="/medgen?term=%22Concentric%20hypertrophic%20cardiomyopathy%22%5BClinical%20Features%5D%20OR%2068651%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_99124"><div><strong>Growth delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>99124</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0456070</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A deficiency or slowing down of growth pre- and postnatally.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/99124">Feature record</a> | <a href="/medgen?term=%22Growth%20delay%22%5BClinical%20Features%5D%20OR%2099124%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_746019"><div><strong>Failure to thrive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>746019</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2315100</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/746019">Feature record</a> | <a href="/medgen?term=%22Failure%20to%20thrive%22%5BClinical%20Features%5D%20OR%20746019%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_42428"><div><strong>Hepatomegaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42428</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0019209</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally increased size of the liver.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/42428">Feature record</a> | <a href="/medgen?term=%22Hepatomegaly%22%5BClinical%20Features%5D%20OR%2042428%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_12124"><div><strong>Vomiting</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>12124</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0042963</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/12124">Feature record</a> | <a href="/medgen?term=%22Vomiting%22%5BClinical%20Features%5D%20OR%2012124%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_88444"><div><strong>Liver failure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>88444</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0085605</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A disorder characterized by the inability of the liver to metabolize chemicals in the body. Causes include cirrhosis and drug-induced hepatotoxicity. Signs and symptoms include jaundice and encephalopathy. Laboratory test results reveal abnormal plasma levels of ammonia, bilirubin, lactic dehydrogenase, and alkaline phosphatase.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/88444">Feature record</a> | <a href="/medgen?term=%22Liver%20failure%22%5BClinical%20Features%5D%20OR%2088444%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_436211"><div><strong>Feeding difficulties in infancy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>436211</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2674608</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/436211">Feature record</a> | <a href="/medgen?term=%22Feeding%20difficulties%20in%20infancy%22%5BClinical%20Features%5D%20OR%20436211%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_9164"><div><strong>Sensorineural hearing loss disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9164</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0018784</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9164">Feature record</a> | <a href="/medgen?term=%22Sensorineural%20hearing%20loss%20disorder%22%5BClinical%20Features%5D%20OR%209164%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_2337"><div><strong>Cerebral edema</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2337</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0006114</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormal accumulation of fluid in the brain.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/2337">Feature record</a> | <a href="/medgen?term=%22Cerebral%20edema%22%5BClinical%20Features%5D%20OR%202337%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_849"><div><strong>Cerebellar ataxia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>849</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0007758</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/849">Feature record</a> | <a href="/medgen?term=%22Cerebellar%20ataxia%22%5BClinical%20Features%5D%20OR%20849%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1054"><div><strong>Coma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1054</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0009421</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The complete absence of wakefulness and consciousness, which is evident through a lack of response to any form of external stimuli.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1054">Feature record</a> | <a href="/medgen?term=%22Coma%22%5BClinical%20Features%5D%20OR%201054%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_8514"><div><strong>Dyskinesia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8514</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0013384</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/8514">Feature record</a> | <a href="/medgen?term=%22Dyskinesia%22%5BClinical%20Features%5D%20OR%208514%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_7310"><div><strong>Lethargy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7310</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0023380</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A state of fatigue, either physical or mental slowness and sluggishness, with difficulties in initiating or performing simple tasks. Distinguished from apathy which implies indifference and a lack of desire or interest in the task. A person with lethargy may have the desire, but not the energy to engage in personal or socially relevant tasks.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7310">Feature record</a> | <a href="/medgen?term=%22Lethargy%22%5BClinical%20Features%5D%20OR%207310%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_6070"><div><strong>Leukodystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6070</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0023520</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Leukodystrophy refers to deterioration of white matter of the brain resulting from degeneration of myelin sheaths in the CNS. Their basic defect is directly related to the synthesis and maintenance of myelin membranes. Symmetric white matter involvement at MRI is a typical finding in patients with leukodystrophies.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6070">Feature record</a> | <a href="/medgen?term=%22Leukodystrophy%22%5BClinical%20Features%5D%20OR%206070%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_7753"><div><strong>Spasticity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7753</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0026838</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7753">Feature record</a> | <a href="/medgen?term=%22Spasticity%22%5BClinical%20Features%5D%20OR%207753%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_19708"><div><strong>Babinski sign</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>19708</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0034935</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/19708">Feature record</a> | <a href="/medgen?term=%22Babinski%20sign%22%5BClinical%20Features%5D%20OR%2019708%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57738"><div><strong>Hyperreflexia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57738</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0151889</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57738">Feature record</a> | <a href="/medgen?term=%22Hyperreflexia%22%5BClinical%20Features%5D%20OR%2057738%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_78722"><div><strong>Leukoencephalopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78722</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0270612</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">This term describes abnormality of the white matter of the cerebrum resulting from damage to the myelin sheaths of nerve cells.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78722">Feature record</a> | <a href="/medgen?term=%22Leukoencephalopathy%22%5BClinical%20Features%5D%20OR%2078722%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_141670"><div><strong>Bilateral tonic-clonic seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141670</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0494475</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/141670">Feature record</a> | <a href="/medgen?term=%22Bilateral%20tonic-clonic%20seizure%22%5BClinical%20Features%5D%20OR%20141670%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_107838"><div><strong>Global developmental delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107838</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0557874</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/107838">Feature record</a> | <a href="/medgen?term=%22Global%20developmental%20delay%22%5BClinical%20Features%5D%20OR%20107838%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_195967"><div><strong>Hyporeflexia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>195967</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0700078</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduction of neurologic reflexes such as the knee-jerk reaction.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/195967">Feature record</a> | <a href="/medgen?term=%22Hyporeflexia%22%5BClinical%20Features%5D%20OR%20195967%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_196624"><div><strong>Cerebellar atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>196624</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0740279</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/196624">Feature record</a> | <a href="/medgen?term=%22Cerebellar%20atrophy%22%5BClinical%20Features%5D%20OR%20196624%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_257904"><div><strong>Increased CSF lactate</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>257904</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1167918</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased concentration of lactate in the cerebrospinal fluid.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/257904">Feature record</a> | <a href="/medgen?term=%22Increased%20CSF%20lactate%22%5BClinical%20Features%5D%20OR%20257904%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_303190"><div><strong>Reduced eye contact</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>303190</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1445953</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A reduced frequency or duration of eye contact.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/303190">Feature record</a> | <a href="/medgen?term=%22Reduced%20eye%20contact%22%5BClinical%20Features%5D%20OR%20303190%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_329971"><div><strong>Increased CSF protein concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>329971</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1806780</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased concentration of protein in the cerebrospinal fluid.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/329971">Feature record</a> | <a href="/medgen?term=%22Increased%20CSF%20protein%20concentration%22%5BClinical%20Features%5D%20OR%20329971%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_324613"><div><strong>Developmental regression</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>324613</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1836830</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Loss of developmental skills, as manifested by loss of developmental milestones.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/324613">Feature record</a> | <a href="/medgen?term=%22Developmental%20regression%22%5BClinical%20Features%5D%20OR%20324613%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_376697"><div><strong>Undetectable visual evoked potentials</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376697</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1850069</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/376697">Feature record</a> | <a href="/medgen?term=%22Undetectable%20visual%20evoked%20potentials%22%5BClinical%20Features%5D%20OR%20376697%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_343241"><div><strong>Acute necrotizing encephalopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343241</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1855020</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/343241">Feature record</a> | <a href="/medgen?term=%22Acute%20necrotizing%20encephalopathy%22%5BClinical%20Features%5D%20OR%20343241%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_868350"><div><strong>Focal T2 hypointense basal ganglia lesion</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>868350</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4022744</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A darker than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a localized hypointensity affecting a particular region of the basal ganglia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/868350">Feature record</a> | <a href="/medgen?term=%22Focal%20T2%20hypointense%20basal%20ganglia%20lesion%22%5BClinical%20Features%5D%20OR%20868350%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_892349"><div><strong>Focal T2 hyperintense basal ganglia lesion</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>892349</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4024926</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a localized hyperintensity affecting a particular region of the basal ganglia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/892349">Feature record</a> | <a href="/medgen?term=%22Focal%20T2%20hyperintense%20basal%20ganglia%20lesion%22%5BClinical%20Features%5D%20OR%20892349%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10133"><div><strong>Hypotonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10133</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0026827</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10133">Feature record</a> | <a href="/medgen?term=%22Hypotonia%22%5BClinical%20Features%5D%20OR%2010133%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57735"><div><strong>Muscle weakness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57735</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0151786</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduced strength of muscles.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57735">Feature record</a> | <a href="/medgen?term=%22Muscle%20weakness%22%5BClinical%20Features%5D%20OR%2057735%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_892680"><div><strong>Muscular atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>892680</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0541794</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of skeletal muscular atrophy (which is also known as amyotrophy).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/892680">Feature record</a> | <a href="/medgen?term=%22Muscular%20atrophy%22%5BClinical%20Features%5D%20OR%20892680%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_322809"><div><strong>Poor head control</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>322809</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1836038</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Difficulty to maintain correct position of the head while standing or sitting. Infant head lag is observed when the head seems to flop around or lags posteriorly behind the trunk. Several articles have maintained that head lag should be absent by age 3 to 4 months.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/322809">Feature record</a> | <a href="/medgen?term=%22Poor%20head%20control%22%5BClinical%20Features%5D%20OR%20322809%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_395368"><div><strong>Progressive macrocephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>395368</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1859896</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The progressive development of an abnormally large skull.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/395368">Feature record</a> | <a href="/medgen?term=%22Progressive%20macrocephaly%22%5BClinical%20Features%5D%20OR%20395368%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_477048"><div><strong>Ragged-red muscle fibers</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>477048</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3275417</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal appearance of muscle fibers observed on muscle biopsy. Ragged red fibers can be visualized with Gomori trichrome staining as irregular and intensely red subsarcolemmal zones, whereas the normal myofibrils are green. The margins of affect fibers appear red and ragged. The ragged-red is due to the accumulation of abnormal mitochondria below the plasma membrane of the muscle fiber, leading to the appearance of a red rim and speckled sarcoplasm.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/477048">Feature record</a> | <a href="/medgen?term=%22Ragged-red%20muscle%20fibers%22%5BClinical%20Features%5D%20OR%20477048%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1644158"><div><strong>Microcephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1644158</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4551563</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Head circumference below 2 standard deviations below the mean for age and gender.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1644158">Feature record</a> | <a href="/medgen?term=%22Microcephaly%22%5BClinical%20Features%5D%20OR%201644158%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_2009"><div><strong>Apnea</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2009</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0003578</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/2009">Feature record</a> | <a href="/medgen?term=%22Apnea%22%5BClinical%20Features%5D%20OR%202009%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_11197"><div><strong>Respiratory insufficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11197</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0035229</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Impairment of gas exchange within the lungs secondary to a disease process, neoplasm, or trauma, possibly resulting in hypoxia, hypercarbia, or both, but not requiring intubation or mechanical ventilation. Patients are normally managed with pharmaceutical therapy, supplemental oxygen, or both.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/11197">Feature record</a> | <a href="/medgen?term=%22Respiratory%20insufficiency%22%5BClinical%20Features%5D%20OR%2011197%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_257837"><div><strong>Respiratory failure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>257837</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1145670</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/257837">Feature record</a> | <a href="/medgen?term=%22Respiratory%20failure%22%5BClinical%20Features%5D%20OR%20257837%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_52469"><div><strong>Splenomegaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>52469</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0038002</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormal increased size of the spleen.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/52469">Feature record</a> | <a href="/medgen?term=%22Splenomegaly%22%5BClinical%20Features%5D%20OR%2052469%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1717"><div><strong>Lactic acidosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1717</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0001125</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1717">Feature record</a> | <a href="/medgen?term=%22Lactic%20acidosis%22%5BClinical%20Features%5D%20OR%201717%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_6979"><div><strong>Hypoglycemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6979</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0020615</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A decreased concentration of glucose in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6979">Feature record</a> | <a href="/medgen?term=%22Hypoglycemia%22%5BClinical%20Features%5D%20OR%206979%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_75702"><div><strong>Hyper-beta-alaninemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75702</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0268630</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increased concentration of alanine in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75702">Feature record</a> | <a href="/medgen?term=%22Hyper-beta-alaninemia%22%5BClinical%20Features%5D%20OR%2075702%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_374223"><div><strong>Severe lactic acidosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>374223</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1839436</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A severe form of lactic acidemia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/374223">Feature record</a> | <a href="/medgen?term=%22Severe%20lactic%20acidosis%22%5BClinical%20Features%5D%20OR%20374223%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_866481"><div><strong>Increased intramyocellular lipid droplets</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>866481</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4020730</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal increase in intracellular lipid droplets In a muscle. The number and size of these drops can increase with somd disorders of lipid metabolism affecting muscle. See PMID 20691590 for histological images.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/866481">Feature record</a> | <a href="/medgen?term=%22Increased%20intramyocellular%20lipid%20droplets%22%5BClinical%20Features%5D%20OR%20866481%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1717835"><div><strong>Elevated lactate:pyruvate ratio</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1717835</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5397670</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal increase in the molar ratio of lactate to pyruvate in the blood circulation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1717835">Feature record</a> | <a href="/medgen?term=%22Elevated%20lactate%3Apyruvate%20ratio%22%5BClinical%20Features%5D%20OR%201717835%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_65987"><div><strong>Tongue fasciculations</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65987</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0239548</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Fasciculations or fibrillation affecting the tongue muscle.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65987">Feature record</a> | <a href="/medgen?term=%22Tongue%20fasciculations%22%5BClinical%20Features%5D%20OR%2065987%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_98390"><div><strong>Upslanted palpebral fissure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98390</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0423109</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98390">Feature record</a> | <a href="/medgen?term=%22Upslanted%20palpebral%20fissure%22%5BClinical%20Features%5D%20OR%2098390%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_784514"><div><strong>Short chin</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>784514</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3697248</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Decreased vertical distance from the vermilion border of the lower lip to the inferior-most point of the chin.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/784514">Feature record</a> | <a href="/medgen?term=%22Short%20chin%22%5BClinical%20Features%5D%20OR%20784514%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1189"><div><strong>Cyanosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1189</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0010520</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1189">Feature record</a> | <a href="/medgen?term=%22Cyanosis%22%5BClinical%20Features%5D%20OR%201189%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_2287"><div><strong>Ptosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2287</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0005745</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/2287">Feature record</a> | <a href="/medgen?term=%22Ptosis%22%5BClinical%20Features%5D%20OR%202287%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_45166"><div><strong>Nystagmus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>45166</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0028738</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/45166">Feature record</a> | <a href="/medgen?term=%22Nystagmus%22%5BClinical%20Features%5D%20OR%2045166%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_21337"><div><strong>Strabismus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21337</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0038379</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/21337">Feature record</a> | <a href="/medgen?term=%22Strabismus%22%5BClinical%20Features%5D%20OR%2021337%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_99138"><div><strong>Blindness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>99138</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0456909</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Blindness is the condition of lacking visual perception defined as a profound reduction in visual perception. On the 6m visual acuity scale, blindness is defined as less than 3/60. On the 20ft visual acuity scale, blindness is defined as less than 20/400. On the decimal visual acuity scale, blindness is defined as less than 0.05. Blindness is typically characterized by a visual field of no greater than 10 degrees in radius around central fixation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/99138">Feature record</a> | <a href="/medgen?term=%22Blindness%22%5BClinical%20Features%5D%20OR%2099138%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_108218"><div><strong>Optic disc pallor</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>108218</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0554970</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A pale yellow discoloration of the optic disc (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/108218">Feature record</a> | <a href="/medgen?term=%22Optic%20disc%20pallor%22%5BClinical%20Features%5D%20OR%20108218%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_854546"><div><strong>Optic neuropathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>854546</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3887709</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Disorder of the optic nerve.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/854546">Feature record</a> | <a href="/medgen?term=%22Optic%20neuropathy%22%5BClinical%20Features%5D%20OR%20854546%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_393796"><div><strong>Decreased activity of mitochondrial complex I</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>393796</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2677650</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A reduction in the activity of the mitochondrial respiratory chain complex I, which is part of the electron transport chain in mitochondria.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/393796">Feature record</a> | <a href="/medgen?term=%22Decreased%20activity%20of%20mitochondrial%20complex%20I%22%5BClinical%20Features%5D%20OR%20393796%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_460434"><div><strong>Decreased activity of mitochondrial complex III</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>460434</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3149083</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A reduction in the activity of the mitochondrial respiratory chain complex III, which is part of the electron transport chain in mitochondria.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/460434">Feature record</a> | <a href="/medgen?term=%22Decreased%20activity%20of%20mitochondrial%20complex%20III%22%5BClinical%20Features%5D%20OR%20460434%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormal cellular phenotype</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_393796" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased activity of mitochondrial complex I</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_460434" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased activity of mitochondrial complex III</a></span></li></ul></li><li><span class="TLline">Abnormality of head or neck</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_784514" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short chin</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65987" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tongue fasciculations</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98390" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Upslanted palpebral fissure</a></span></li></ul></li><li><span class="TLline">Abnormality of metabolism/homeostasis</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1717835" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elevated lactate:pyruvate ratio</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_75702" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyper-beta-alaninemia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6979" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypoglycemia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_866481" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased intramyocellular lipid droplets</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1717" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lactic acidosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_374223" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Severe lactic acidosis</a></span></li></ul></li><li><span class="TLline">Abnormality of the cardiovascular system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_68651" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Concentric hypertrophic cardiomyopathy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_2881" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertrophic cardiomyopathy</a></span></li></ul></li><li><span class="TLline">Abnormality of the digestive system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_436211" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Feeding difficulties in infancy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_42428" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hepatomegaly</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_88444" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Liver failure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_12124" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vomiting</a></span></li></ul></li><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_99138" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Blindness</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_45166" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nystagmus</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_108218" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Optic disc pallor</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_854546" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Optic neuropathy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_2287" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ptosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_21337" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Strabismus</a></span></li></ul></li><li><span class="TLline">Abnormality of the genitourinary system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_870283" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">3-hydroxydicarboxylic aciduria</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_163083" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypospadias</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_871116" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lacticaciduria</a></span></li></ul></li><li><span class="TLline">Abnormality of the immune system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_52469" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Splenomegaly</a></span></li></ul></li><li><span class="TLline">Abnormality of the integument</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1189" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cyanosis</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10133" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypotonia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1644158" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microcephaly</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57735" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscle weakness</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_892680" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscular atrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_322809" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Poor head control</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_395368" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Progressive macrocephaly</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_477048" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ragged-red muscle fibers</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_343241" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Acute necrotizing encephalopathy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_19708" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Babinski sign</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_141670" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bilateral tonic-clonic seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_849" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebellar ataxia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_196624" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebellar atrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_2337" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebral edema</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1054" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Coma</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_324613" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental regression</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8514" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dyskinesia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_892349" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Focal T2 hyperintense basal ganglia lesion</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_868350" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Focal T2 hypointense basal ganglia lesion</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_107838" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Global developmental delay</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57738" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperreflexia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_195967" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyporeflexia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_257904" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased CSF lactate</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_329971" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased CSF protein concentration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7310" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lethargy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6070" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Leukodystrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_78722" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Leukoencephalopathy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_303190" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Reduced eye contact</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7753" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spasticity</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_376697" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Undetectable visual evoked potentials</a></span></li></ul></li><li><span class="TLline">Abnormality of the respiratory system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_2009" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Apnea</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_257837" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Respiratory failure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_11197" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Respiratory insufficiency</a></span></li></ul></li><li><span class="TLline">Constitutional symptom</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_603270" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Exercise intolerance</a></span></li></ul></li><li><span class="TLline">Ear malformation</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9164" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sensorineural hearing loss disorder</a></span></li></ul></li><li><span class="TLline">Growth abnormality</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_746019" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Failure to thrive</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_99124" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Growth delay</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0236038[DISCUI]&test_type=Clinical" ref="ncbi_uid=65923">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=65923">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=65923" ref="ncbi_uid=65923">V</a></span></span><span class="TLline"><a href="/medgen/65923" ref="tree=GTR&ncbi_uid=65923&link_uid=65923" title="View MedGen record for 'Hereditary hearing loss and deafness'">Hereditary hearing loss and deafness</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1567741[DISCUI]&test_type=Clinical" ref="ncbi_uid=339209">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=339209" ref="ncbi_uid=339209">V</a></span></span><span class="TLline"><a href="/medgen/339209" ref="tree=GTR&ncbi_uid=339209&link_uid=339209" title="View MedGen record for 'Alport syndrome'">Alport syndrome</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5882663[DISCUI]&test_type=Clinical" ref="ncbi_uid=1848787">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1848787" target="_blank" href="/omim/104200">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1207/" ref="ncbi_uid=1848787">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1848787" ref="ncbi_uid=1848787">V</a></span></span><span class="TLline"><a href="/medgen/1848787" ref="tree=GTR&ncbi_uid=1848787&link_uid=1848787" title="View MedGen record for 'Autosomal dominant Alport syndrome'">Autosomal dominant Alport syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4746745[DISCUI]&test_type=Clinical" ref="ncbi_uid=1648334">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1648334" target="_blank" href="/omim/120131">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1207/" ref="ncbi_uid=1648334">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1648334" ref="ncbi_uid=1648334">V</a></span></span><span class="TLline"><a href="/medgen/1648334" ref="tree=GTR&ncbi_uid=1648334&link_uid=1648334" title="View MedGen record for 'Autosomal recessive Alport syndrome'">Autosomal recessive Alport syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4746986[DISCUI]&test_type=Clinical" ref="ncbi_uid=1648433">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1648433" target="_blank" href="/omim/301050">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1207/" ref="ncbi_uid=1648433">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1648433" ref="ncbi_uid=1648433">V</a></span></span><span class="TLline"><a href="/medgen/1648433" ref="tree=GTR&ncbi_uid=1648433&link_uid=1648433" title="View MedGen record for 'X-linked Alport syndrome'">X-linked Alport syndrome</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0220754[DISCUI]&test_type=Clinical" ref="ncbi_uid=66323">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=66323" target="_blank" href="/omim/253260">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1322/" ref="ncbi_uid=66323">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=66323" ref="ncbi_uid=66323">V</a></span></span><span class="TLline"><a href="/medgen/66323" ref="tree=GTR&ncbi_uid=66323&link_uid=66323" title="View MedGen record for 'Biotinidase deficiency'">Biotinidase deficiency</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=CN043574[DISCUI]&test_type=Clinical" ref="ncbi_uid=432724">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1380/" ref="ncbi_uid=432724">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=432724" ref="ncbi_uid=432724">V</a></span></span><span class="TLline"><a href="/medgen/432724" ref="tree=GTR&ncbi_uid=432724&link_uid=432724" title="View MedGen record for 'Branchiootorenal Spectrum Disorders'">Branchiootorenal Spectrum Disorders</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1842124[DISCUI]&test_type=Clinical" ref="ncbi_uid=333995">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=333995" target="_blank" href="/omim/601205">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1380/" ref="ncbi_uid=333995">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=333995" ref="ncbi_uid=333995">V</a></span></span><span class="TLline"><a href="/medgen/333995" ref="tree=GTR&ncbi_uid=333995&link_uid=333995" title="View MedGen record for 'Branchiootic syndrome 3'">Branchiootic syndrome 3</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4551702[DISCUI]&test_type=Clinical" ref="ncbi_uid=1632634">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1632634" target="_blank" href="/omim/113650">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1380/" ref="ncbi_uid=1632634">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1632634" ref="ncbi_uid=1632634">V</a></span></span><span class="TLline"><a href="/medgen/1632634" ref="tree=GTR&ncbi_uid=1632634&link_uid=1632634" title="View MedGen record for 'Branchiootorenal syndrome 1'">Branchiootorenal syndrome 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1970479[DISCUI]&test_type=Clinical" ref="ncbi_uid=410081">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=410081" target="_blank" href="/omim/600963">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1380/" ref="ncbi_uid=410081">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=410081" ref="ncbi_uid=410081">V</a></span></span><span class="TLline"><a href="/medgen/410081" ref="tree=GTR&ncbi_uid=410081&link_uid=410081" title="View MedGen record for 'Branchiootorenal syndrome 2'">Branchiootorenal syndrome 2</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0796074[DISCUI]&test_type=Clinical" ref="ncbi_uid=162903">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=162903" target="_blank" href="/omim/300356">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1216/" ref="ncbi_uid=162903">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=162903" ref="ncbi_uid=162903">V</a></span></span><span class="TLline"><a href="/medgen/162903" ref="tree=GTR&ncbi_uid=162903&link_uid=162903" title="View MedGen record for 'Deafness dystonia syndrome'">Deafness dystonia syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4551509[DISCUI]&test_type=Clinical" ref="ncbi_uid=1646925">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1646925" target="_blank" href="/omim/220400">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1405/" ref="ncbi_uid=1646925">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1646925" ref="ncbi_uid=1646925">V</a></span></span><span class="TLline"><a href="/medgen/1646925" ref="tree=GTR&ncbi_uid=1646925&link_uid=1646925" title="View MedGen record for 'Jervell and Lange-Nielsen syndrome 1'">Jervell and Lange-Nielsen syndrome 1</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2676723[DISCUI]&test_type=Clinical" ref="ncbi_uid=394108">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=394108" target="_blank" href="/omim/176261">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1405/" ref="ncbi_uid=394108">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=394108" ref="ncbi_uid=394108">V</a></span></span><span class="TLline"><a href="/medgen/394108" ref="tree=GTR&ncbi_uid=394108&link_uid=394108" title="View MedGen record for 'Jervell and Lange-Nielsen syndrome 2'">Jervell and Lange-Nielsen syndrome 2</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4551647[DISCUI]&test_type=Clinical" ref="ncbi_uid=1641146">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1641146" target="_blank" href="/omim/192500">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1129/" ref="ncbi_uid=1641146">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1641146" ref="ncbi_uid=1641146">V</a></span></span><span class="TLline"><a href="/medgen/1641146" ref="tree=GTR&ncbi_uid=1641146&link_uid=1641146" title="View MedGen record for 'Long QT syndrome 1'">Long QT syndrome 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1867904[DISCUI]&test_type=Clinical" ref="ncbi_uid=358092">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=358092" target="_blank" href="/omim/176261">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1129/" ref="ncbi_uid=358092">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=358092" ref="ncbi_uid=358092">V</a></span></span><span class="TLline"><a href="/medgen/358092" ref="tree=GTR&ncbi_uid=358092&link_uid=358092" title="View MedGen record for 'Long QT syndrome 5'">Long QT syndrome 5</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0751651[DISCUI]&test_type=Clinical" ref="ncbi_uid=155901">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1224/" ref="ncbi_uid=155901">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=155901" ref="ncbi_uid=155901">V</a></span></span><span class="TLline"><a href="/medgen/155901" ref="tree=GTR&ncbi_uid=155901&link_uid=155901" title="View MedGen record for 'Mitochondrial disease'">Mitochondrial disease</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0342779[DISCUI]&test_type=Clinical" ref="ncbi_uid=452448">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/452448" ref="tree=GTR&ncbi_uid=452448&link_uid=452448" title="View MedGen record for 'Complex V deficiency'">Complex V deficiency</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3279699[DISCUI]&test_type=Clinical" ref="ncbi_uid=481329">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=481329" target="_blank" href="/omim/612418">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=481329" ref="ncbi_uid=481329">V</a></span></span><span class="TLline"><a href="/medgen/481329" ref="tree=GTR&ncbi_uid=481329&link_uid=481329" title="View MedGen record for 'Mitochondrial complex V (ATP synthase) deficiency nuclear type 2'">Mitochondrial complex V (ATP synthase) deficiency nuclear type 2</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3279708[DISCUI]&test_type=Clinical" ref="ncbi_uid=481338">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=481338" target="_blank" href="/omim/606153">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=481338" ref="ncbi_uid=481338">V</a></span></span><span class="TLline"><a href="/medgen/481338" ref="tree=GTR&ncbi_uid=481338&link_uid=481338" title="View MedGen record for 'Mitochondrial complex V (ATP synthase) deficiency nuclear type 3'">Mitochondrial complex V (ATP synthase) deficiency nuclear type 3</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3276276[DISCUI]&test_type=Clinical" ref="ncbi_uid=477906">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=477906" target="_blank" href="/omim/604273">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=477906" ref="ncbi_uid=477906">V</a></span></span><span class="TLline"><a href="/medgen/477906" ref="tree=GTR&ncbi_uid=477906&link_uid=477906" title="View MedGen record for 'Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1'">Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2931891[DISCUI]&test_type=Clinical" ref="ncbi_uid=419518">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=419518" target="_blank" href="/omim/256000">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1173%20OR%20NBK1203%20OR%20NBK1224%20OR%20NBK320989)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=419518">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=419518" ref="ncbi_uid=419518">V</a></span></span><span class="TLline"><a href="/medgen/419518" ref="tree=GTR&ncbi_uid=419518&link_uid=419518" title="View MedGen record for 'Leigh syndrome'">Leigh syndrome</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1857355[DISCUI]&test_type=Clinical" ref="ncbi_uid=387801">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=387801" target="_blank" href="/omim/220111">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=387801" ref="ncbi_uid=387801">V</a></span></span><span class="TLline"><a href="/medgen/387801" ref="tree=GTR&ncbi_uid=387801&link_uid=387801" title="View MedGen record for 'Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type'">Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3280112[DISCUI]&test_type=Clinical" ref="ncbi_uid=481742">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=481742" target="_blank" href="/omim/603967">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1168/" ref="ncbi_uid=481742">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=481742" ref="ncbi_uid=481742">V</a></span></span><span class="TLline"><a href="/medgen/481742" ref="tree=GTR&ncbi_uid=481742&link_uid=481742" title="View MedGen record for 'Congenital myasthenic syndrome 16'">Congenital myasthenic syndrome 16</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=CN043625[DISCUI]&test_type=Clinical" ref="ncbi_uid=432733">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK320989/" ref="ncbi_uid=432733">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/432733" ref="tree=GTR&ncbi_uid=432733&link_uid=432733" title="View MedGen record for 'Leigh Syndrome (nuclear DNA mutation)'">Leigh Syndrome (nuclear DNA mutation)</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1838951[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=333220">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=333220" target="_blank" href="/omim/516001">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=333220" ref="ncbi_uid=333220">V</a></span></span><span class="TLline"><a href="/medgen/333220" ref="tree=GTR&ncbi_uid=333220&link_uid=333220" title="View MedGen record for 'Leigh syndrome due to mitochondrial complex I deficiency'">Leigh syndrome due to mitochondrial complex I deficiency</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/342542" ref="tree=GTR&ncbi_uid=342542&link_uid=342542" title="View MedGen record for 'Leigh syndrome due to mitochondrial complex II deficiency'">Leigh syndrome due to mitochondrial complex II deficiency</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1850598[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=376834">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/376834" ref="tree=GTR&ncbi_uid=376834&link_uid=376834" title="View MedGen record for 'Leigh syndrome due to mitochondrial complex III deficiency'">Leigh syndrome due to mitochondrial complex III deficiency</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/376835" ref="tree=GTR&ncbi_uid=376835&link_uid=376835" title="View MedGen record for 'Leigh syndrome due to mitochondrial complex V deficiency'">Leigh syndrome due to mitochondrial complex V deficiency</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=443976" target="_blank" href="/omim/500017">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/443976" ref="tree=GTR&ncbi_uid=443976&link_uid=443976" title="View MedGen record for 'Maternally-inherited Leigh syndrome'">Maternally-inherited Leigh syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=331718" target="_blank" href="/omim/161700">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1173/" ref="ncbi_uid=331718">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/331718" ref="tree=GTR&ncbi_uid=331718&link_uid=331718" title="View MedGen record for 'Necrotizing encephalomyelopathy, subacute, of Leigh, adult'">Necrotizing encephalomyelopathy, subacute, of Leigh, adult</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0034341[DISCUI]&test_type=Clinical" ref="ncbi_uid=18801">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=18801" target="_blank" href="/omim/266150">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK6852/" ref="ncbi_uid=18801">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=18801" ref="ncbi_uid=18801">V</a></span></span><span class="TLline"><a href="/medgen/18801" ref="tree=GTR&ncbi_uid=18801&link_uid=18801" title="View MedGen record for 'Pyruvate carboxylase deficiency'">Pyruvate carboxylase deficiency</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0034345[DISCUI]&test_type=Clinical" ref="ncbi_uid=19610">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=19610" target="_blank" href="/omim/312170">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK571223/" ref="ncbi_uid=19610">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=19610" ref="ncbi_uid=19610">V</a></span></span><span class="TLline"><a href="/medgen/19610" ref="tree=GTR&ncbi_uid=19610&link_uid=19610" title="View MedGen record for 'Pyruvate dehydrogenase complex deficiency'">Pyruvate dehydrogenase complex deficiency</a></span></li></ul></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1838979[DISCUI]&test_type=Clinical" ref="ncbi_uid=374101">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=374101" target="_blank" href="/omim/252010">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=374101" ref="ncbi_uid=374101">V</a></span></span><span class="TLline">Mitochondrial complex I deficiency</span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1648371" target="_blank" href="/omim/500014">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1648371" ref="ncbi_uid=1648371">V</a></span></span><span class="TLline"><a href="/medgen/1648371" ref="tree=GTR&ncbi_uid=1648371&link_uid=1648371" title="View MedGen record for 'Mitochondrial complex 1 deficiency, mitochondrial type 1'">Mitochondrial complex 1 deficiency, mitochondrial type 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=CN257533[DISCUI]&test_type=Clinical" ref="ncbi_uid=940569">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=940569" ref="ncbi_uid=940569">V</a></span></span><span class="TLline"><a href="/medgen/940569" ref="tree=GTR&ncbi_uid=940569&link_uid=940569" title="View MedGen record for 'Mitochondrial complex I deficiency, nuclear type 1'">Mitochondrial complex I deficiency, nuclear type 1</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5700310[DISCUI]&test_type=Clinical" ref="ncbi_uid=1814582">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1814582" target="_blank" href="/omim/252011">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1814582" ref="ncbi_uid=1814582">V</a></span></span><span class="TLline"><a href="/medgen/1814582" ref="tree=GTR&ncbi_uid=1814582&link_uid=1814582" title="View MedGen record for 'Mitochondrial complex II deficiency, nuclear type 1'">Mitochondrial complex II deficiency, nuclear type 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3541471[DISCUI]&test_type=Clinical" ref="ncbi_uid=762097">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=762097" target="_blank" href="/omim/124000">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=762097" ref="ncbi_uid=762097">V</a></span></span><span class="TLline"><a href="/medgen/762097" ref="tree=GTR&ncbi_uid=762097&link_uid=762097" title="View MedGen record for 'Mitochondrial complex III deficiency nuclear type 1'">Mitochondrial complex III deficiency nuclear type 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5435656[DISCUI]&test_type=Clinical" ref="ncbi_uid=1750917">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1750917" target="_blank" href="/omim/185620">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK320989/" ref="ncbi_uid=1750917">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1750917" ref="ncbi_uid=1750917">V</a></span></span><span class="TLline"><a href="/medgen/1750917" ref="tree=GTR&ncbi_uid=1750917&link_uid=1750917" title="View MedGen record for 'Mitochondrial complex IV deficiency, nuclear type 1'">Mitochondrial complex IV deficiency, nuclear type 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=CN043632[DISCUI]&test_type=Clinical" ref="ncbi_uid=433158">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1203/" ref="ncbi_uid=433158">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/433158" ref="tree=GTR&ncbi_uid=433158&link_uid=433158" title="View MedGen record for 'Mitochondrial DNA Deletion Syndromes'">Mitochondrial DNA Deletion Syndromes</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0022541[DISCUI]&test_type=Clinical" ref="ncbi_uid=9618">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=9618" target="_blank" href="/omim/530000">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1203%20OR%20NBK1224)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=9618">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=9618" ref="ncbi_uid=9618">V</a></span></span><span class="TLline"><a href="/medgen/9618" ref="tree=GTR&ncbi_uid=9618&link_uid=9618" title="View MedGen record for 'Kearns-Sayre syndrome'">Kearns-Sayre syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3554462[DISCUI]&test_type=Clinical" ref="ncbi_uid=767376">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=767376" target="_blank" href="/omim/615076">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK487393/" ref="ncbi_uid=767376">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=767376" ref="ncbi_uid=767376">V</a></span></span><span class="TLline"><a href="/medgen/767376" ref="tree=GTR&ncbi_uid=767376&link_uid=767376" title="View MedGen record for 'Mitochondrial DNA depletion syndrome 11'">Mitochondrial DNA depletion syndrome 11</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4310690[DISCUI]&test_type=Clinical" ref="ncbi_uid=934657">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=934657" target="_blank" href="/omim/600438">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK487393/" ref="ncbi_uid=934657">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=934657" ref="ncbi_uid=934657">V</a></span></span><span class="TLline"><a href="/medgen/934657" ref="tree=GTR&ncbi_uid=934657&link_uid=934657" title="View MedGen record for 'Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)'">Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4707428[DISCUI]&test_type=Clinical" ref="ncbi_uid=1637084">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/1637084" ref="tree=GTR&ncbi_uid=1637084&link_uid=1637084" title="View MedGen record for 'Mitochondrial DNA depletion syndrome, encephalomyopathic form'">Mitochondrial DNA depletion syndrome, encephalomyopathic form</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0342784[DISCUI]&test_type=Clinical" ref="ncbi_uid=87459">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=87459" target="_blank" href="/omim/557000">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1203/" ref="ncbi_uid=87459">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=87459" ref="ncbi_uid=87459">V</a></span></span><span class="TLline"><a href="/medgen/87459" ref="tree=GTR&ncbi_uid=87459&link_uid=87459" title="View MedGen record for 'Pearson syndrome'">Pearson syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0162674[DISCUI]&test_type=Clinical" ref="ncbi_uid=102439">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=102439" ref="ncbi_uid=102439">V</a></span></span><span class="TLline"><a href="/medgen/102439" ref="tree=GTR&ncbi_uid=102439&link_uid=102439" title="View MedGen record for 'Progressive external ophthalmoplegia'">Progressive external ophthalmoplegia</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=381541" target="_blank" href="/omim/251945">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1224/" ref="ncbi_uid=381541">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/381541" ref="tree=GTR&ncbi_uid=381541&link_uid=381541" title="View MedGen record for 'Mitochondrial myopathy with a defect in mitochondrial-protein transport'">Mitochondrial myopathy with a defect in mitochondrial-protein transport</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3151897[DISCUI]&test_type=Clinical" ref="ncbi_uid=463247">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=463247" target="_blank" href="/omim/500008">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1422%20OR%20NBK1434)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=463247">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=463247" ref="ncbi_uid=463247">V</a></span></span><span class="TLline"><a href="/medgen/463247" ref="tree=GTR&ncbi_uid=463247&link_uid=463247" title="View MedGen record for 'Mitochondrial non-syndromic sensorineural hearing loss'">Mitochondrial non-syndromic sensorineural hearing loss</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1328349[DISCUI]&test_type=Clinical" ref="ncbi_uid=231285">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=231285" target="_blank" href="/omim/516060">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1173%20OR%20NBK1224)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=231285">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=231285" ref="ncbi_uid=231285">V</a></span></span><span class="TLline"><a href="/medgen/231285" ref="tree=GTR&ncbi_uid=231285&link_uid=231285" title="View MedGen record for 'NARP syndrome'">NARP syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=374113" target="_blank" href="/omim/500003">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=374113" ref="ncbi_uid=374113">V</a></span></span><span class="TLline"><a href="/medgen/374113" ref="tree=GTR&ncbi_uid=374113&link_uid=374113" title="View MedGen record for 'Striatonigral degeneration, infantile, mitochondrial'">Striatonigral degeneration, infantile, mitochondrial</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0027832[DISCUI]&test_type=Clinical" ref="ncbi_uid=18014">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=18014" target="_blank" href="/omim/101000">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1201/" ref="ncbi_uid=18014">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=18014" ref="ncbi_uid=18014">V</a></span></span><span class="TLline"><a href="/medgen/18014" ref="tree=GTR&ncbi_uid=18014&link_uid=18014" title="View MedGen record for 'Neurofibromatosis, type 2'">Neurofibromatosis, type 2</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5680182[DISCUI]&test_type=Clinical" ref="ncbi_uid=1830101">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1830101" ref="ncbi_uid=1830101">V</a></span></span><span class="TLline"><a href="/medgen/1830101" ref="tree=GTR&ncbi_uid=1830101&link_uid=1830101" title="View MedGen record for 'Nonsyndromic genetic hearing loss'">Nonsyndromic genetic hearing loss</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5779548[DISCUI]&test_type=Clinical" ref="ncbi_uid=1843285">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1843285" ref="ncbi_uid=1843285">V</a></span></span><span class="TLline"><a href="/medgen/1843285" ref="tree=GTR&ncbi_uid=1843285&link_uid=1843285" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss'">Autosomal dominant nonsyndromic hearing loss</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1852282[DISCUI]&test_type=Clinical" ref="ncbi_uid=343767">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=343767" target="_blank" href="/omim/124900">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=343767">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=343767" ref="ncbi_uid=343767">V</a></span></span><span class="TLline"><a href="/medgen/343767" ref="tree=GTR&ncbi_uid=343767&link_uid=343767" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 1'">Autosomal dominant nonsyndromic hearing loss 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1832932[DISCUI]&test_type=Clinical" ref="ncbi_uid=331398">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=331398" target="_blank" href="/omim/600994">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=331398">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=331398" ref="ncbi_uid=331398">V</a></span></span><span class="TLline"><a href="/medgen/331398" ref="tree=GTR&ncbi_uid=331398&link_uid=331398" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 5'">Autosomal dominant nonsyndromic hearing loss 5</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1833021[DISCUI]&test_type=Clinical" ref="ncbi_uid=331419">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=331419" target="_blank" href="/omim/600965">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1434%20OR%20NBK4144)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=331419">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=331419" ref="ncbi_uid=331419">V</a></span></span><span class="TLline"><a href="/medgen/331419" ref="tree=GTR&ncbi_uid=331419&link_uid=331419" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 6'">Autosomal dominant nonsyndromic hearing loss 6</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1832379[DISCUI]&test_type=Clinical" ref="ncbi_uid=318614">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=318614" target="_blank" href="/omim/600298">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=318614" ref="ncbi_uid=318614">V</a></span></span><span class="TLline"><a href="/medgen/318614" ref="tree=GTR&ncbi_uid=318614&link_uid=318614" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 7'">Autosomal dominant nonsyndromic hearing loss 7</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1832425[DISCUI]&test_type=Clinical" ref="ncbi_uid=371327">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=371327" target="_blank" href="/omim/601369">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=371327">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=371327" ref="ncbi_uid=371327">V</a></span></span><span class="TLline"><a href="/medgen/371327" ref="tree=GTR&ncbi_uid=371327&link_uid=371327" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 9'">Autosomal dominant nonsyndromic hearing loss 9</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1832476[DISCUI]&test_type=Clinical" ref="ncbi_uid=321966">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=321966" target="_blank" href="/omim/601316">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=321966">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=321966" ref="ncbi_uid=321966">V</a></span></span><span class="TLline"><a href="/medgen/321966" ref="tree=GTR&ncbi_uid=321966&link_uid=321966" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 10'">Autosomal dominant nonsyndromic hearing loss 10</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1832475[DISCUI]&test_type=Clinical" ref="ncbi_uid=331297">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=331297" target="_blank" href="/omim/276903">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=331297">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=331297" ref="ncbi_uid=331297">V</a></span></span><span class="TLline"><a href="/medgen/331297" ref="tree=GTR&ncbi_uid=331297&link_uid=331297" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 11'">Autosomal dominant nonsyndromic hearing loss 11</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1832187[DISCUI]&test_type=Clinical" ref="ncbi_uid=321902">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=321902" target="_blank" href="/omim/601543">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=321902">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=321902" ref="ncbi_uid=321902">V</a></span></span><span class="TLline"><a href="/medgen/321902" ref="tree=GTR&ncbi_uid=321902&link_uid=321902" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 12'">Autosomal dominant nonsyndromic hearing loss 12</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1866095[DISCUI]&test_type=Clinical" ref="ncbi_uid=400917">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=400917" target="_blank" href="/omim/120290">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=400917">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=400917" ref="ncbi_uid=400917">V</a></span></span><span class="TLline"><a href="/medgen/400917" ref="tree=GTR&ncbi_uid=400917&link_uid=400917" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 13'">Autosomal dominant nonsyndromic hearing loss 13</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1865366[DISCUI]&test_type=Clinical" ref="ncbi_uid=355451">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=355451" target="_blank" href="/omim/602459">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=355451">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=355451" ref="ncbi_uid=355451">V</a></span></span><span class="TLline"><a href="/medgen/355451" ref="tree=GTR&ncbi_uid=355451&link_uid=355451" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 15'">Autosomal dominant nonsyndromic hearing loss 15</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=349054" target="_blank" href="/omim/603964">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=349054" ref="ncbi_uid=349054">V</a></span></span><span class="TLline"><a href="/medgen/349054" ref="tree=GTR&ncbi_uid=349054&link_uid=349054" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 16'">Autosomal dominant nonsyndromic hearing loss 16</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1863659[DISCUI]&test_type=Clinical" ref="ncbi_uid=350942">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=350942" target="_blank" href="/omim/160775">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=350942">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=350942" ref="ncbi_uid=350942">V</a></span></span><span class="TLline"><a href="/medgen/350942" ref="tree=GTR&ncbi_uid=350942&link_uid=350942" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 17'">Autosomal dominant nonsyndromic hearing loss 17</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=340051" target="_blank" href="/omim/606012">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/340051" ref="tree=GTR&ncbi_uid=340051&link_uid=340051" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 18'">Autosomal dominant nonsyndromic hearing loss 18</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1858172[DISCUI]&test_type=Clinical" ref="ncbi_uid=346852">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=346852" target="_blank" href="/omim/102560">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=346852">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=346852" ref="ncbi_uid=346852">V</a></span></span><span class="TLline"><a href="/medgen/346852" ref="tree=GTR&ncbi_uid=346852&link_uid=346852" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 20'">Autosomal dominant nonsyndromic hearing loss 20</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1846922[DISCUI]&test_type=Clinical" ref="ncbi_uid=339643">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=339643" target="_blank" href="/omim/607017">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=339643" ref="ncbi_uid=339643">V</a></span></span><span class="TLline"><a href="/medgen/339643" ref="tree=GTR&ncbi_uid=339643&link_uid=339643" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 21'">Autosomal dominant nonsyndromic hearing loss 21</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2931767[DISCUI]&test_type=Clinical" ref="ncbi_uid=419894">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=419894" target="_blank" href="/omim/600970">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=419894">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=419894" ref="ncbi_uid=419894">V</a></span></span><span class="TLline"><a href="/medgen/419894" ref="tree=GTR&ncbi_uid=419894&link_uid=419894" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 22'">Autosomal dominant nonsyndromic hearing loss 22</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1854594[DISCUI]&test_type=Clinical" ref="ncbi_uid=343162">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=343162" target="_blank" href="/omim/601205">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=343162">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=343162" ref="ncbi_uid=343162">V</a></span></span><span class="TLline"><a href="/medgen/343162" ref="tree=GTR&ncbi_uid=343162&link_uid=343162" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 23'">Autosomal dominant nonsyndromic hearing loss 23</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=377905" target="_blank" href="/omim/606282">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/377905" ref="tree=GTR&ncbi_uid=377905&link_uid=377905" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 24'">Autosomal dominant nonsyndromic hearing loss 24</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1854158[DISCUI]&test_type=Clinical" ref="ncbi_uid=344221">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=344221" target="_blank" href="/omim/605583">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=344221">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=344221" ref="ncbi_uid=344221">V</a></span></span><span class="TLline"><a href="/medgen/344221" ref="tree=GTR&ncbi_uid=344221&link_uid=344221" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 25'">Autosomal dominant nonsyndromic hearing loss 25</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3887929[DISCUI]&test_type=Clinical" ref="ncbi_uid=854637">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=854637" target="_blank" href="/omim/600571">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=854637" ref="ncbi_uid=854637">V</a></span></span><span class="TLline"><a href="/medgen/854637" ref="tree=GTR&ncbi_uid=854637&link_uid=854637" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 27'">Autosomal dominant nonsyndromic hearing loss 27</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1837640[DISCUI]&test_type=Clinical" ref="ncbi_uid=324846">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=324846" target="_blank" href="/omim/608576">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=324846">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=324846" ref="ncbi_uid=324846">V</a></span></span><span class="TLline"><a href="/medgen/324846" ref="tree=GTR&ncbi_uid=324846&link_uid=324846" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 28'">Autosomal dominant nonsyndromic hearing loss 28</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2677637[DISCUI]&test_type=Clinical" ref="ncbi_uid=436997">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=436997" target="_blank" href="/omim/600101">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1209%20OR%20NBK1434)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=436997">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=436997" ref="ncbi_uid=436997">V</a></span></span><span class="TLline"><a href="/medgen/436997" ref="tree=GTR&ncbi_uid=436997&link_uid=436997" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 2A'">Autosomal dominant nonsyndromic hearing loss 2A</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2675236[DISCUI]&test_type=Clinical" ref="ncbi_uid=390742">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=390742" target="_blank" href="/omim/603324">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=390742">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=390742" ref="ncbi_uid=390742">V</a></span></span><span class="TLline"><a href="/medgen/390742" ref="tree=GTR&ncbi_uid=390742&link_uid=390742" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 2B'">Autosomal dominant nonsyndromic hearing loss 2B</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=341116" target="_blank" href="/omim/606451">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=341116" ref="ncbi_uid=341116">V</a></span></span><span class="TLline"><a href="/medgen/341116" ref="tree=GTR&ncbi_uid=341116&link_uid=341116" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 30'">Autosomal dominant nonsyndromic hearing loss 30</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=325209" target="_blank" href="/omim/608645">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/325209" ref="tree=GTR&ncbi_uid=325209&link_uid=325209" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 31'">Autosomal dominant nonsyndromic hearing loss 31</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=854638" target="_blank" href="/omim/614211">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=854638" ref="ncbi_uid=854638">V</a></span></span><span class="TLline"><a href="/medgen/854638" ref="tree=GTR&ncbi_uid=854638&link_uid=854638" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 33'">Autosomal dominant nonsyndromic hearing loss 33</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1847626[DISCUI]&test_type=Clinical" ref="ncbi_uid=376173">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=376173" target="_blank" href="/omim/606705">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=376173">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=376173" ref="ncbi_uid=376173">V</a></span></span><span class="TLline"><a href="/medgen/376173" ref="tree=GTR&ncbi_uid=376173&link_uid=376173" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 36'">Autosomal dominant nonsyndromic hearing loss 36</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1842371[DISCUI]&test_type=Clinical" ref="ncbi_uid=330834">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=330834" target="_blank" href="/omim/600844">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=330834" ref="ncbi_uid=330834">V</a></span></span><span class="TLline"><a href="/medgen/330834" ref="tree=GTR&ncbi_uid=330834&link_uid=330834" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 41'">Autosomal dominant nonsyndromic hearing loss 41</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=330769" target="_blank" href="/omim/608394">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/330769" ref="tree=GTR&ncbi_uid=330769&link_uid=330769" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 43'">Autosomal dominant nonsyndromic hearing loss 43</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1843895[DISCUI]&test_type=Clinical" ref="ncbi_uid=334525">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=334525" target="_blank" href="/omim/607453">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=334525">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=334525" ref="ncbi_uid=334525">V</a></span></span><span class="TLline"><a href="/medgen/334525" ref="tree=GTR&ncbi_uid=334525&link_uid=334525" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 44'">Autosomal dominant nonsyndromic hearing loss 44</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=324838" target="_blank" href="/omim/608652">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/324838" ref="tree=GTR&ncbi_uid=324838&link_uid=324838" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 47'">Autosomal dominant nonsyndromic hearing loss 47</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1842939[DISCUI]&test_type=Clinical" ref="ncbi_uid=375052">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=375052" target="_blank" href="/omim/607841">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=375052">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=375052" ref="ncbi_uid=375052">V</a></span></span><span class="TLline"><a href="/medgen/375052" ref="tree=GTR&ncbi_uid=375052&link_uid=375052" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 48'">Autosomal dominant nonsyndromic hearing loss 48</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=331222" target="_blank" href="/omim/608372">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/331222" ref="tree=GTR&ncbi_uid=331222&link_uid=331222" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 49'">Autosomal dominant nonsyndromic hearing loss 49</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1833503[DISCUI]&test_type=Clinical" ref="ncbi_uid=322209">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=322209" target="_blank" href="/omim/600652">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=322209">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=322209" ref="ncbi_uid=322209">V</a></span></span><span class="TLline"><a href="/medgen/322209" ref="tree=GTR&ncbi_uid=322209&link_uid=322209" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 4A'">Autosomal dominant nonsyndromic hearing loss 4A</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3888123[DISCUI]&test_type=Clinical" ref="ncbi_uid=854780">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=854780" target="_blank" href="/omim/611606">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=854780">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=854780" ref="ncbi_uid=854780">V</a></span></span><span class="TLline"><a href="/medgen/854780" ref="tree=GTR&ncbi_uid=854780&link_uid=854780" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 50'">Autosomal dominant nonsyndromic hearing loss 50</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3160736[DISCUI]&test_type=Clinical" ref="ncbi_uid=463625">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=463625" target="_blank" href="/omim/613558">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=463625" ref="ncbi_uid=463625">V</a></span></span><span class="TLline"><a href="/medgen/463625" ref="tree=GTR&ncbi_uid=463625&link_uid=463625" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 51'">Autosomal dominant nonsyndromic hearing loss 51</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/334357" ref="tree=GTR&ncbi_uid=334357&link_uid=334357" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 52'">Autosomal dominant nonsyndromic hearing loss 52</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=355336" target="_blank" href="/omim/609965">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/355336" ref="tree=GTR&ncbi_uid=355336&link_uid=355336" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 53'">Autosomal dominant nonsyndromic hearing loss 53</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=390743" target="_blank" href="/omim/612642">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/390743" ref="tree=GTR&ncbi_uid=390743&link_uid=390743" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 59'">Autosomal dominant nonsyndromic hearing loss 59</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3279948[DISCUI]&test_type=Clinical" ref="ncbi_uid=481578">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=481578" target="_blank" href="/omim/605219">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=481578" ref="ncbi_uid=481578">V</a></span></span><span class="TLline"><a href="/medgen/481578" ref="tree=GTR&ncbi_uid=481578&link_uid=481578" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 64'">Autosomal dominant nonsyndromic hearing loss 64</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=CN043650[DISCUI]&test_type=Clinical" ref="ncbi_uid=432739">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=432739" ref="ncbi_uid=432739">V</a></span></span><span class="TLline"><a href="/medgen/432739" ref="tree=GTR&ncbi_uid=432739&link_uid=432739" title="View MedGen record for 'Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive'">Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1838701[DISCUI]&test_type=Clinical" ref="ncbi_uid=325485">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=325485" target="_blank" href="/omim/276903">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=325485" ref="ncbi_uid=325485">V</a></span></span><span class="TLline"><a href="/medgen/325485" ref="tree=GTR&ncbi_uid=325485&link_uid=325485" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 2'">Autosomal recessive nonsyndromic hearing loss 2</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1838263[DISCUI]&test_type=Clinical" ref="ncbi_uid=325373">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=325373" target="_blank" href="/omim/600316">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=325373">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=325373" ref="ncbi_uid=325373">V</a></span></span><span class="TLline"><a href="/medgen/325373" ref="tree=GTR&ncbi_uid=325373&link_uid=325373" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 3'">Autosomal recessive nonsyndromic hearing loss 3</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3538946[DISCUI]&test_type=Clinical" ref="ncbi_uid=761234">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=761234" target="_blank" href="/omim/600791">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1434%20OR%20NBK1467)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=761234">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=761234" ref="ncbi_uid=761234">V</a></span></span><span class="TLline"><a href="/medgen/761234" ref="tree=GTR&ncbi_uid=761234&link_uid=761234" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 4'">Autosomal recessive nonsyndromic hearing loss 4</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=331485" target="_blank" href="/omim/600792">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/331485" ref="tree=GTR&ncbi_uid=331485&link_uid=331485" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 5'">Autosomal recessive nonsyndromic hearing loss 5</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1832992[DISCUI]&test_type=Clinical" ref="ncbi_uid=322088">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=322088" target="_blank" href="/omim/600971">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=322088">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=322088" ref="ncbi_uid=322088">V</a></span></span><span class="TLline"><a href="/medgen/322088" ref="tree=GTR&ncbi_uid=322088&link_uid=322088" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 6'">Autosomal recessive nonsyndromic hearing loss 6</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1832978[DISCUI]&test_type=Clinical" ref="ncbi_uid=322084">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=322084" target="_blank" href="/omim/600974">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=322084">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=322084" ref="ncbi_uid=322084">V</a></span></span><span class="TLline"><a href="/medgen/322084" ref="tree=GTR&ncbi_uid=322084&link_uid=322084" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 7'">Autosomal recessive nonsyndromic hearing loss 7</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1832827[DISCUI]&test_type=Clinical" ref="ncbi_uid=322046">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=322046" target="_blank" href="/omim/601072">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=322046">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=322046" ref="ncbi_uid=322046">V</a></span></span><span class="TLline"><a href="/medgen/322046" ref="tree=GTR&ncbi_uid=322046&link_uid=322046" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 8'">Autosomal recessive nonsyndromic hearing loss 8</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1832828[DISCUI]&test_type=Clinical" ref="ncbi_uid=331376">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=331376" target="_blank" href="/omim/601071">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1251%20OR%20NBK1434)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=331376">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=331376" ref="ncbi_uid=331376">V</a></span></span><span class="TLline"><a href="/medgen/331376" ref="tree=GTR&ncbi_uid=331376&link_uid=331376" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 9'">Autosomal recessive nonsyndromic hearing loss 9</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1832394[DISCUI]&test_type=Clinical" ref="ncbi_uid=330455">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=330455" target="_blank" href="/omim/601386">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=330455">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=330455" ref="ncbi_uid=330455">V</a></span></span><span class="TLline"><a href="/medgen/330455" ref="tree=GTR&ncbi_uid=330455&link_uid=330455" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 12'">Autosomal recessive nonsyndromic hearing loss 12</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=350361" target="_blank" href="/omim/603098">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/350361" ref="tree=GTR&ncbi_uid=350361&link_uid=350361" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 13'">Autosomal recessive nonsyndromic hearing loss 13</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=350931" target="_blank" href="/omim/603678">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/350931" ref="tree=GTR&ncbi_uid=350931&link_uid=350931" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 14'">Autosomal recessive nonsyndromic hearing loss 14</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1866094[DISCUI]&test_type=Clinical" ref="ncbi_uid=355626">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=355626" target="_blank" href="/omim/601869">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=355626" ref="ncbi_uid=355626">V</a></span></span><span class="TLline"><a href="/medgen/355626" ref="tree=GTR&ncbi_uid=355626&link_uid=355626" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 15'">Autosomal recessive nonsyndromic hearing loss 15</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1863561[DISCUI]&test_type=Clinical" ref="ncbi_uid=350211">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=350211" target="_blank" href="/omim/603720">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1434%20OR%20NBK598310)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=350211">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=350211" ref="ncbi_uid=350211">V</a></span></span><span class="TLline"><a href="/medgen/350211" ref="tree=GTR&ncbi_uid=350211&link_uid=350211" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 16'">Autosomal recessive nonsyndromic hearing loss 16</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=355180" target="_blank" href="/omim/603010">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/355180" ref="tree=GTR&ncbi_uid=355180&link_uid=355180" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 17'">Autosomal recessive nonsyndromic hearing loss 17</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1865870[DISCUI]&test_type=Clinical" ref="ncbi_uid=356389">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=356389" target="_blank" href="/omim/602092">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=356389">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=356389" ref="ncbi_uid=356389">V</a></span></span><span class="TLline"><a href="/medgen/356389" ref="tree=GTR&ncbi_uid=356389&link_uid=356389" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 18A'">Autosomal recessive nonsyndromic hearing loss 18A</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2673759[DISCUI]&test_type=Clinical" ref="ncbi_uid=388720">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=388720" target="_blank" href="/omim/121011">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1272%20OR%20NBK1434)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=388720">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=388720" ref="ncbi_uid=388720">V</a></span></span><span class="TLline"><a href="/medgen/388720" ref="tree=GTR&ncbi_uid=388720&link_uid=388720" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 1A'">Autosomal recessive nonsyndromic hearing loss 1A</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2675235[DISCUI]&test_type=Clinical" ref="ncbi_uid=436381">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=436381" target="_blank" href="/omim/604418">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=436381" ref="ncbi_uid=436381">V</a></span></span><span class="TLline"><a href="/medgen/436381" ref="tree=GTR&ncbi_uid=436381&link_uid=436381" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 1B'">Autosomal recessive nonsyndromic hearing loss 1B</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=347005" target="_blank" href="/omim/604060">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/347005" ref="tree=GTR&ncbi_uid=347005&link_uid=347005" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 20'">Autosomal recessive nonsyndromic hearing loss 20</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1863655[DISCUI]&test_type=Clinical" ref="ncbi_uid=355030">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=355030" target="_blank" href="/omim/603629">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=355030">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=355030" ref="ncbi_uid=355030">V</a></span></span><span class="TLline"><a href="/medgen/355030" ref="tree=GTR&ncbi_uid=355030&link_uid=355030" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 21'">Autosomal recessive nonsyndromic hearing loss 21</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1846896[DISCUI]&test_type=Clinical" ref="ncbi_uid=339636">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=339636" target="_blank" href="/omim/607038">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=339636">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=339636" ref="ncbi_uid=339636">V</a></span></span><span class="TLline"><a href="/medgen/339636" ref="tree=GTR&ncbi_uid=339636&link_uid=339636" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 22'">Autosomal recessive nonsyndromic hearing loss 22</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1836027[DISCUI]&test_type=Clinical" ref="ncbi_uid=332110">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=332110" target="_blank" href="/omim/605514">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=332110">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=332110" ref="ncbi_uid=332110">V</a></span></span><span class="TLline"><a href="/medgen/332110" ref="tree=GTR&ncbi_uid=332110&link_uid=332110" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 23'">Autosomal recessive nonsyndromic hearing loss 23</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1970239[DISCUI]&test_type=Clinical" ref="ncbi_uid=370208">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=370208" target="_blank" href="/omim/179410">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=370208">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=370208" ref="ncbi_uid=370208">V</a></span></span><span class="TLline"><a href="/medgen/370208" ref="tree=GTR&ncbi_uid=370208&link_uid=370208" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 24'">Autosomal recessive nonsyndromic hearing loss 24</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1414017[DISCUI]&test_type=Clinical" ref="ncbi_uid=237587">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=237587" target="_blank" href="/omim/613283">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=237587" ref="ncbi_uid=237587">V</a></span></span><span class="TLline"><a href="/medgen/237587" ref="tree=GTR&ncbi_uid=237587&link_uid=237587" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 25'">Autosomal recessive nonsyndromic hearing loss 25</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1854275[DISCUI]&test_type=Clinical" ref="ncbi_uid=340185">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=340185" target="_blank" href="/omim/604439">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=340185" ref="ncbi_uid=340185">V</a></span></span><span class="TLline"><a href="/medgen/340185" ref="tree=GTR&ncbi_uid=340185&link_uid=340185" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 26'">Autosomal recessive nonsyndromic hearing loss 26</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=381303" target="_blank" href="/omim/605818">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/381303" ref="tree=GTR&ncbi_uid=381303&link_uid=381303" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 27'">Autosomal recessive nonsyndromic hearing loss 27</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1853276[DISCUI]&test_type=Clinical" ref="ncbi_uid=342839">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=342839" target="_blank" href="/omim/609761">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=342839">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=342839" ref="ncbi_uid=342839">V</a></span></span><span class="TLline"><a href="/medgen/342839" ref="tree=GTR&ncbi_uid=342839&link_uid=342839" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 28'">Autosomal recessive nonsyndromic hearing loss 28</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3279660[DISCUI]&test_type=Clinical" ref="ncbi_uid=481290">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=481290" target="_blank" href="/omim/605608">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=481290" ref="ncbi_uid=481290">V</a></span></span><span class="TLline"><a href="/medgen/481290" ref="tree=GTR&ncbi_uid=481290&link_uid=481290" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 29'">Autosomal recessive nonsyndromic hearing loss 29</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1846784[DISCUI]&test_type=Clinical" ref="ncbi_uid=335521">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=335521" target="_blank" href="/omim/606808">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=335521">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=335521" ref="ncbi_uid=335521">V</a></span></span><span class="TLline"><a href="/medgen/335521" ref="tree=GTR&ncbi_uid=335521&link_uid=335521" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 30'">Autosomal recessive nonsyndromic hearing loss 30</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1846839[DISCUI]&test_type=Clinical" ref="ncbi_uid=339621">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=339621" target="_blank" href="/omim/607084">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=339621">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=339621" ref="ncbi_uid=339621">V</a></span></span><span class="TLline"><a href="/medgen/339621" ref="tree=GTR&ncbi_uid=339621&link_uid=339621" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 31'">Autosomal recessive nonsyndromic hearing loss 31</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1837608[DISCUI]&test_type=Clinical" ref="ncbi_uid=373370">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=373370" target="_blank" href="/omim/603504">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=373370" ref="ncbi_uid=373370">V</a></span></span><span class="TLline"><a href="/medgen/373370" ref="tree=GTR&ncbi_uid=373370&link_uid=373370" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 32'">Autosomal recessive nonsyndromic hearing loss 32</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=335464" target="_blank" href="/omim/607239">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/335464" ref="tree=GTR&ncbi_uid=335464&link_uid=335464" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 33'">Autosomal recessive nonsyndromic hearing loss 33</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1837857[DISCUI]&test_type=Clinical" ref="ncbi_uid=324897">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=324897" target="_blank" href="/omim/602167">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=324897">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=324897" ref="ncbi_uid=324897">V</a></span></span><span class="TLline"><a href="/medgen/324897" ref="tree=GTR&ncbi_uid=324897&link_uid=324897" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 35'">Autosomal recessive nonsyndromic hearing loss 35</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1837007[DISCUI]&test_type=Clinical" ref="ncbi_uid=324662">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=324662" target="_blank" href="/omim/609006">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=324662">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=324662" ref="ncbi_uid=324662">V</a></span></span><span class="TLline"><a href="/medgen/324662" ref="tree=GTR&ncbi_uid=324662&link_uid=324662" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 36'">Autosomal recessive nonsyndromic hearing loss 36</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1843028[DISCUI]&test_type=Clinical" ref="ncbi_uid=375076">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=375076" target="_blank" href="/omim/600970">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=375076">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=375076" ref="ncbi_uid=375076">V</a></span></span><span class="TLline"><a href="/medgen/375076" ref="tree=GTR&ncbi_uid=375076&link_uid=375076" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 37'">Autosomal recessive nonsyndromic hearing loss 37</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=330838" target="_blank" href="/omim/608219">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/330838" ref="tree=GTR&ncbi_uid=330838&link_uid=330838" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 38'">Autosomal recessive nonsyndromic hearing loss 38</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1842342[DISCUI]&test_type=Clinical" ref="ncbi_uid=374909">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=374909" target="_blank" href="/omim/142409">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=374909">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=374909" ref="ncbi_uid=374909">V</a></span></span><span class="TLline"><a href="/medgen/374909" ref="tree=GTR&ncbi_uid=374909&link_uid=374909" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 39'">Autosomal recessive nonsyndromic hearing loss 39</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=334053" target="_blank" href="/omim/608264">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/334053" ref="tree=GTR&ncbi_uid=334053&link_uid=334053" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 40'">Autosomal recessive nonsyndromic hearing loss 40</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1864818[DISCUI]&test_type=Clinical" ref="ncbi_uid=351225">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=351225" target="_blank" href="/omim/609646">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=351225" ref="ncbi_uid=351225">V</a></span></span><span class="TLline"><a href="/medgen/351225" ref="tree=GTR&ncbi_uid=351225&link_uid=351225" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 42'">Autosomal recessive nonsyndromic hearing loss 42</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1857809[DISCUI]&test_type=Clinical" ref="ncbi_uid=341854">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=341854" target="_blank" href="/omim/103072">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=341854" ref="ncbi_uid=341854">V</a></span></span><span class="TLline"><a href="/medgen/341854" ref="tree=GTR&ncbi_uid=341854&link_uid=341854" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 44'">Autosomal recessive nonsyndromic hearing loss 44</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=854732" target="_blank" href="/omim/612433">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/854732" ref="tree=GTR&ncbi_uid=854732&link_uid=854732" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 45'">Autosomal recessive nonsyndromic hearing loss 45</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=355302" target="_blank" href="/omim/609647">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/355302" ref="tree=GTR&ncbi_uid=355302&link_uid=355302" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 46'">Autosomal recessive nonsyndromic hearing loss 46</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=355339" target="_blank" href="/omim/609946">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/355339" ref="tree=GTR&ncbi_uid=355339&link_uid=355339" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 47'">Autosomal recessive nonsyndromic hearing loss 47</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1836199[DISCUI]&test_type=Clinical" ref="ncbi_uid=332149">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=332149" target="_blank" href="/omim/605564">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=332149" ref="ncbi_uid=332149">V</a></span></span><span class="TLline"><a href="/medgen/332149" ref="tree=GTR&ncbi_uid=332149&link_uid=332149" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 48'">Autosomal recessive nonsyndromic hearing loss 48</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1857811[DISCUI]&test_type=Clinical" ref="ncbi_uid=346670">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=346670" target="_blank" href="/omim/610153">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=346670">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=346670" ref="ncbi_uid=346670">V</a></span></span><span class="TLline"><a href="/medgen/346670" ref="tree=GTR&ncbi_uid=346670&link_uid=346670" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 49'">Autosomal recessive nonsyndromic hearing loss 49</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=355880" target="_blank" href="/omim/609941">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/355880" ref="tree=GTR&ncbi_uid=355880&link_uid=355880" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 51'">Autosomal recessive nonsyndromic hearing loss 51</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1864746[DISCUI]&test_type=Clinical" ref="ncbi_uid=400602">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=400602" target="_blank" href="/omim/120290">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=400602" ref="ncbi_uid=400602">V</a></span></span><span class="TLline"><a href="/medgen/400602" ref="tree=GTR&ncbi_uid=400602&link_uid=400602" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 53'">Autosomal recessive nonsyndromic hearing loss 53</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=355338" target="_blank" href="/omim/609952">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/355338" ref="tree=GTR&ncbi_uid=355338&link_uid=355338" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 55'">Autosomal recessive nonsyndromic hearing loss 55</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1857744[DISCUI]&test_type=Clinical" ref="ncbi_uid=387899">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=387899" target="_blank" href="/omim/610219">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=387899">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=387899" ref="ncbi_uid=387899">V</a></span></span><span class="TLline"><a href="/medgen/387899" ref="tree=GTR&ncbi_uid=387899&link_uid=387899" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 59'">Autosomal recessive nonsyndromic hearing loss 59</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3151230[DISCUI]&test_type=Clinical" ref="ncbi_uid=462580">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462580" target="_blank" href="/omim/604943">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462580" ref="ncbi_uid=462580">V</a></span></span><span class="TLline"><a href="/medgen/462580" ref="tree=GTR&ncbi_uid=462580&link_uid=462580" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 61'">Autosomal recessive nonsyndromic hearing loss 61</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=387916" target="_blank" href="/omim/610143">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/387916" ref="tree=GTR&ncbi_uid=387916&link_uid=387916" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 62'">Autosomal recessive nonsyndromic hearing loss 62</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1969621[DISCUI]&test_type=Clinical" ref="ncbi_uid=409872">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=409872" target="_blank" href="/omim/611451">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=409872">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=409872" ref="ncbi_uid=409872">V</a></span></span><span class="TLline"><a href="/medgen/409872" ref="tree=GTR&ncbi_uid=409872&link_uid=409872" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 63'">Autosomal recessive nonsyndromic hearing loss 63</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=344004" target="_blank" href="/omim/610248">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/344004" ref="tree=GTR&ncbi_uid=344004&link_uid=344004" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 65'">Autosomal recessive nonsyndromic hearing loss 65</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1857750[DISCUI]&test_type=Clinical" ref="ncbi_uid=346659">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=346659" target="_blank" href="/omim/605755">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=346659" ref="ncbi_uid=346659">V</a></span></span><span class="TLline"><a href="/medgen/346659" ref="tree=GTR&ncbi_uid=346659&link_uid=346659" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 66'">Autosomal recessive nonsyndromic hearing loss 66</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1853223[DISCUI]&test_type=Clinical" ref="ncbi_uid=343997">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=343997" target="_blank" href="/omim/609427">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=343997">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=343997" ref="ncbi_uid=343997">V</a></span></span><span class="TLline"><a href="/medgen/343997" ref="tree=GTR&ncbi_uid=343997&link_uid=343997" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 67'">Autosomal recessive nonsyndromic hearing loss 67</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1835854[DISCUI]&test_type=Clinical" ref="ncbi_uid=324374">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=324374" target="_blank" href="/omim/605111">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=324374" ref="ncbi_uid=324374">V</a></span></span><span class="TLline"><a href="/medgen/324374" ref="tree=GTR&ncbi_uid=324374&link_uid=324374" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 68'">Autosomal recessive nonsyndromic hearing loss 68</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=411609" target="_blank" href="/omim/612789">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/411609" ref="tree=GTR&ncbi_uid=411609&link_uid=411609" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 71'">Autosomal recessive nonsyndromic hearing loss 71</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2239351[DISCUI]&test_type=Clinical" ref="ncbi_uid=453237">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=453237" target="_blank" href="/omim/613718">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=453237" ref="ncbi_uid=453237">V</a></span></span><span class="TLline"><a href="/medgen/453237" ref="tree=GTR&ncbi_uid=453237&link_uid=453237" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 74'">Autosomal recessive nonsyndromic hearing loss 74</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2746083[DISCUI]&test_type=Clinical" ref="ncbi_uid=412541">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=412541" target="_blank" href="/omim/613072">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=412541">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=412541" ref="ncbi_uid=412541">V</a></span></span><span class="TLline"><a href="/medgen/412541" ref="tree=GTR&ncbi_uid=412541&link_uid=412541" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 77'">Autosomal recessive nonsyndromic hearing loss 77</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2750082[DISCUI]&test_type=Clinical" ref="ncbi_uid=413222">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=413222" target="_blank" href="/omim/613307">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=413222" ref="ncbi_uid=413222">V</a></span></span><span class="TLline"><a href="/medgen/413222" ref="tree=GTR&ncbi_uid=413222&link_uid=413222" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 79'">Autosomal recessive nonsyndromic hearing loss 79</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=854856" target="_blank" href="/omim/613685">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/854856" ref="tree=GTR&ncbi_uid=854856&link_uid=854856" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 83'">Autosomal recessive nonsyndromic hearing loss 83</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3150654[DISCUI]&test_type=Clinical" ref="ncbi_uid=462004">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462004" target="_blank" href="/omim/603317">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462004" ref="ncbi_uid=462004">V</a></span></span><span class="TLline"><a href="/medgen/462004" ref="tree=GTR&ncbi_uid=462004&link_uid=462004" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 84A'">Autosomal recessive nonsyndromic hearing loss 84A</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=463629" target="_blank" href="/omim/613392">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/463629" ref="tree=GTR&ncbi_uid=463629&link_uid=463629" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 85'">Autosomal recessive nonsyndromic hearing loss 85</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3151351[DISCUI]&test_type=Clinical" ref="ncbi_uid=462701">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462701" target="_blank" href="/omim/601421">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462701" ref="ncbi_uid=462701">V</a></span></span><span class="TLline"><a href="/medgen/462701" ref="tree=GTR&ncbi_uid=462701&link_uid=462701" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 89'">Autosomal recessive nonsyndromic hearing loss 89</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3150704[DISCUI]&test_type=Clinical" ref="ncbi_uid=462054">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462054" target="_blank" href="/omim/173321">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462054" ref="ncbi_uid=462054">V</a></span></span><span class="TLline"><a href="/medgen/462054" ref="tree=GTR&ncbi_uid=462054&link_uid=462054" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 91'">Autosomal recessive nonsyndromic hearing loss 91</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=854865" target="_blank" href="/omim/614414">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/854865" ref="tree=GTR&ncbi_uid=854865&link_uid=854865" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 96'">Autosomal recessive nonsyndromic hearing loss 96</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1858695[DISCUI]&test_type=Clinical" ref="ncbi_uid=347699">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=347699" target="_blank" href="/omim/604213">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=347699" ref="ncbi_uid=347699">V</a></span></span><span class="TLline"><a href="/medgen/347699" ref="tree=GTR&ncbi_uid=347699&link_uid=347699" title="View MedGen record for 'Chudley-McCullough syndrome'">Chudley-McCullough syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4015888[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=864325">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=864325" target="_blank" href="/omim/108733">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=864325" ref="ncbi_uid=864325">V</a></span></span><span class="TLline"><a href="/medgen/864325" ref="tree=GTR&ncbi_uid=864325&link_uid=864325" title="View MedGen record for 'Deafness, autosomal recessive 12, modifier of'">Deafness, autosomal recessive 12, modifier of</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3808414[DISCUI]&test_type=Clinical" ref="ncbi_uid=814744">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=814744" target="_blank" href="/omim/601119">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK242617/" ref="ncbi_uid=814744">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=814744" ref="ncbi_uid=814744">V</a></span></span><span class="TLline"><a href="/medgen/814744" ref="tree=GTR&ncbi_uid=814744&link_uid=814744" title="View MedGen record for 'Perrault syndrome 3'">Perrault syndrome 3</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=CN043651[DISCUI]&test_type=Clinical" ref="ncbi_uid=432740">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=432740" ref="ncbi_uid=432740">V</a></span></span><span class="TLline"><a href="/medgen/432740" ref="tree=GTR&ncbi_uid=432740&link_uid=432740" title="View MedGen record for 'X-linked deafness'">X-linked deafness</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1844678[DISCUI]&test_type=Clinical" ref="ncbi_uid=336750">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=336750" target="_blank" href="/omim/300039">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=336750">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=336750" ref="ncbi_uid=336750">V</a></span></span><span class="TLline"><a href="/medgen/336750" ref="tree=GTR&ncbi_uid=336750&link_uid=336750" title="View MedGen record for 'X-linked mixed hearing loss with perilymphatic gusher'">X-linked mixed hearing loss with perilymphatic gusher</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0265253[DISCUI]&test_type=Clinical" ref="ncbi_uid=120521">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1302/" ref="ncbi_uid=120521">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=120521" ref="ncbi_uid=120521">V</a></span></span><span class="TLline"><a href="/medgen/120521" ref="tree=GTR&ncbi_uid=120521&link_uid=120521" title="View MedGen record for 'Stickler syndrome'">Stickler syndrome</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1848488[DISCUI]&test_type=Clinical" ref="ncbi_uid=341234">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=341234" target="_blank" href="/omim/120290">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1302/" ref="ncbi_uid=341234">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=341234" ref="ncbi_uid=341234">V</a></span></span><span class="TLline"><a href="/medgen/341234" ref="tree=GTR&ncbi_uid=341234&link_uid=341234" title="View MedGen record for 'Otospondylomegaepiphyseal dysplasia, autosomal dominant'">Otospondylomegaepiphyseal dysplasia, autosomal dominant</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2020284[DISCUI]&test_type=Clinical" ref="ncbi_uid=810955">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=810955" target="_blank" href="/omim/108300">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1302%20OR%20NBK540447)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=810955">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=810955" ref="ncbi_uid=810955">V</a></span></span><span class="TLline"><a href="/medgen/810955" ref="tree=GTR&ncbi_uid=810955&link_uid=810955" title="View MedGen record for 'Stickler syndrome type 1'">Stickler syndrome type 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1858084[DISCUI]&test_type=Clinical" ref="ncbi_uid=347615">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=347615" target="_blank" href="/omim/120280">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1302/" ref="ncbi_uid=347615">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=347615" ref="ncbi_uid=347615">V</a></span></span><span class="TLline"><a href="/medgen/347615" ref="tree=GTR&ncbi_uid=347615&link_uid=347615" title="View MedGen record for 'Stickler syndrome type 2'">Stickler syndrome type 2</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3279941[DISCUI]&test_type=Clinical" ref="ncbi_uid=481571">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=481571" target="_blank" href="/omim/120210">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1302/" ref="ncbi_uid=481571">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=481571" ref="ncbi_uid=481571">V</a></span></span><span class="TLline"><a href="/medgen/481571" ref="tree=GTR&ncbi_uid=481571&link_uid=481571" title="View MedGen record for 'Stickler syndrome, type 4'">Stickler syndrome, type 4</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3280342[DISCUI]&test_type=Clinical" ref="ncbi_uid=481972">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=481972" target="_blank" href="/omim/614284">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1302/" ref="ncbi_uid=481972">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=481972" ref="ncbi_uid=481972">V</a></span></span><span class="TLline"><a href="/medgen/481972" ref="tree=GTR&ncbi_uid=481972&link_uid=481972" title="View MedGen record for 'Stickler syndrome, type 5'">Stickler syndrome, type 5</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5774207[DISCUI]&test_type=Clinical" ref="ncbi_uid=1823980">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1823980" target="_blank" href="/omim/120270">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1823980" ref="ncbi_uid=1823980">V</a></span></span><span class="TLline"><a href="/medgen/1823980" ref="tree=GTR&ncbi_uid=1823980&link_uid=1823980" title="View MedGen record for 'Stickler syndrome, type 6'">Stickler syndrome, type 6</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1836080[DISCUI]&test_type=Clinical" ref="ncbi_uid=322820">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=322820" target="_blank" href="/omim/120140">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=322820" ref="ncbi_uid=322820">V</a></span></span><span class="TLline"><a href="/medgen/322820" ref="tree=GTR&ncbi_uid=322820&link_uid=322820" title="View MedGen record for 'Stickler syndrome, type I, nonsyndromic ocular'">Stickler syndrome, type I, nonsyndromic ocular</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0271097[DISCUI]&test_type=Clinical" ref="ncbi_uid=78754">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=78754" target="_blank" href="/omim/590085">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=78754" ref="ncbi_uid=78754">V</a></span></span><span class="TLline"><a href="/medgen/78754" ref="tree=GTR&ncbi_uid=78754&link_uid=78754" title="View MedGen record for 'Usher syndrome'">Usher syndrome</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1568247[DISCUI]&test_type=Clinical" ref="ncbi_uid=292820">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=292820" target="_blank" href="/omim/276900">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1265/" ref="ncbi_uid=292820">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=292820" ref="ncbi_uid=292820">V</a></span></span><span class="TLline"><a href="/medgen/292820" ref="tree=GTR&ncbi_uid=292820&link_uid=292820" title="View MedGen record for 'Usher syndrome type 1'">Usher syndrome type 1</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2931206[DISCUI]&test_type=Clinical" ref="ncbi_uid=419358">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=419358" ref="ncbi_uid=419358">V</a></span></span><span class="TLline"><a href="/medgen/419358" ref="tree=GTR&ncbi_uid=419358&link_uid=419358" title="View MedGen record for 'Usher syndrome type 1B'">Usher syndrome type 1B</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1848604[DISCUI]&test_type=Clinical" ref="ncbi_uid=338506">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=338506" target="_blank" href="/omim/276904">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1265/" ref="ncbi_uid=338506">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=338506" ref="ncbi_uid=338506">V</a></span></span><span class="TLline"><a href="/medgen/338506" ref="tree=GTR&ncbi_uid=338506&link_uid=338506" title="View MedGen record for 'Usher syndrome type 1C'">Usher syndrome type 1C</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1832845[DISCUI]&test_type=Clinical" ref="ncbi_uid=322051">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=322051" target="_blank" href="/omim/601067">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1265/" ref="ncbi_uid=322051">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=322051" ref="ncbi_uid=322051">V</a></span></span><span class="TLline"><a href="/medgen/322051" ref="tree=GTR&ncbi_uid=322051&link_uid=322051" title="View MedGen record for 'Usher syndrome type 1D'">Usher syndrome type 1D</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1865865[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=400865">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=400865" target="_blank" href="/omim/602097">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1265/" ref="ncbi_uid=400865">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/400865" ref="tree=GTR&ncbi_uid=400865&link_uid=400865" title="View MedGen record for 'Usher syndrome type 1E'">Usher syndrome type 1E</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1865885[DISCUI]&test_type=Clinical" ref="ncbi_uid=356393">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=356393" target="_blank" href="/omim/602083">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1265/" ref="ncbi_uid=356393">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=356393" ref="ncbi_uid=356393">V</a></span></span><span class="TLline"><a href="/medgen/356393" ref="tree=GTR&ncbi_uid=356393&link_uid=356393" title="View MedGen record for 'Usher syndrome type 1F'">Usher syndrome type 1F</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1847089[DISCUI]&test_type=Clinical" ref="ncbi_uid=339683">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=339683" target="_blank" href="/omim/606943">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1265/" ref="ncbi_uid=339683">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=339683" ref="ncbi_uid=339683">V</a></span></span><span class="TLline"><a href="/medgen/339683" ref="tree=GTR&ncbi_uid=339683&link_uid=339683" title="View MedGen record for 'Usher syndrome type 1G'">Usher syndrome type 1G</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2675458[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=393392">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=393392" target="_blank" href="/omim/612632">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1265/" ref="ncbi_uid=393392">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/393392" ref="tree=GTR&ncbi_uid=393392&link_uid=393392" title="View MedGen record for 'Usher syndrome type 1H'">Usher syndrome type 1H</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0339534[DISCUI]&test_type=Clinical" ref="ncbi_uid=83288">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1341/" ref="ncbi_uid=83288">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=83288" ref="ncbi_uid=83288">V</a></span></span><span class="TLline"><a href="/medgen/83288" ref="tree=GTR&ncbi_uid=83288&link_uid=83288" title="View MedGen record for 'Usher syndrome type 2'">Usher syndrome type 2</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1568248[DISCUI]&test_type=Clinical" ref="ncbi_uid=339336">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=339336" ref="ncbi_uid=339336">V</a></span></span><span class="TLline"><a href="/medgen/339336" ref="tree=GTR&ncbi_uid=339336&link_uid=339336" title="View MedGen record for 'Usher syndrome type 3'">Usher syndrome type 3</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5779850[DISCUI]&test_type=Clinical" ref="ncbi_uid=1830415">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1830415" target="_blank" href="/omim/276902">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1830415" ref="ncbi_uid=1830415">V</a></span></span><span class="TLline"><a href="/medgen/1830415" ref="tree=GTR&ncbi_uid=1830415&link_uid=1830415" title="View MedGen record for 'Usher syndrome type 3A'">Usher syndrome type 3A</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3281066[DISCUI]&test_type=Clinical" ref="ncbi_uid=482696">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=482696" target="_blank" href="/omim/142810">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=482696" ref="ncbi_uid=482696">V</a></span></span><span class="TLline"><a href="/medgen/482696" ref="tree=GTR&ncbi_uid=482696&link_uid=482696" title="View MedGen record for 'Usher syndrome type 3B'">Usher syndrome type 3B</a></span></li></ul></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1847800[DISCUI]&test_type=Clinical" ref="ncbi_uid=376211">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=376211" target="_blank" href="/omim/193500">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1531/" ref="ncbi_uid=376211">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=376211" ref="ncbi_uid=376211">V</a></span></span><span class="TLline"><a href="/medgen/376211" ref="tree=GTR&ncbi_uid=376211&link_uid=376211" title="View MedGen record for 'Waardenburg syndrome type 1'">Waardenburg syndrome type 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2700265[DISCUI]&test_type=Clinical" ref="ncbi_uid=398443">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=398443" ref="ncbi_uid=398443">V</a></span></span><span class="TLline"><a href="/medgen/398443" ref="tree=GTR&ncbi_uid=398443&link_uid=398443" title="View MedGen record for 'Waardenburg syndrome type 2'">Waardenburg syndrome type 2</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1860339[DISCUI]&test_type=Clinical" ref="ncbi_uid=349786">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=349786" target="_blank" href="/omim/156845">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=349786" ref="ncbi_uid=349786">V</a></span></span><span class="TLline"><a href="/medgen/349786" ref="tree=GTR&ncbi_uid=349786&link_uid=349786" title="View MedGen record for 'Waardenburg syndrome type 2A'">Waardenburg syndrome type 2A</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1838447[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=373973">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=373973" target="_blank" href="/omim/600193">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/373973" ref="tree=GTR&ncbi_uid=373973&link_uid=373973" title="View MedGen record for 'Waardenburg syndrome type 2B'">Waardenburg syndrome type 2B</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1847722[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=335755">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=335755" target="_blank" href="/omim/606662">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/335755" ref="tree=GTR&ncbi_uid=335755&link_uid=335755" title="View MedGen record for 'Waardenburg syndrome type 2C'">Waardenburg syndrome type 2C</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1837203[DISCUI]&test_type=Clinical" ref="ncbi_uid=323102">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=323102" ref="ncbi_uid=323102">V</a></span></span><span class="TLline"><a href="/medgen/323102" ref="tree=GTR&ncbi_uid=323102&link_uid=323102" title="View MedGen record for 'Waardenburg syndrome type 2D'">Waardenburg syndrome type 2D</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2700405[DISCUI]&test_type=Clinical" ref="ncbi_uid=398476">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=398476" target="_blank" href="/omim/611584">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=398476" ref="ncbi_uid=398476">V</a></span></span><span class="TLline"><a href="/medgen/398476" ref="tree=GTR&ncbi_uid=398476&link_uid=398476" title="View MedGen record for 'Waardenburg syndrome type 2E'">Waardenburg syndrome type 2E</a></span><ul><li class="TLclosed"><span class="TLline"><a href="/medgen/432988" ref="tree=GTR&ncbi_uid=432988&link_uid=432988" title="View MedGen record for 'Waardenburg syndrome type 2E, with neurologic involvement'">Waardenburg syndrome type 2E, with neurologic involvement</a></span></li><li class="TLclosed"><span class="TLline"><a href="/medgen/432987" ref="tree=GTR&ncbi_uid=432987&link_uid=432987" title="View MedGen record for 'Waardenburg syndrome type 2E, without neurologic involvement'">Waardenburg syndrome type 2E, without neurologic involvement</a></span></li></ul></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0079661[DISCUI]&test_type=Clinical" ref="ncbi_uid=86948">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=86948" target="_blank" href="/omim/148820">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=86948" ref="ncbi_uid=86948">V</a></span></span><span class="TLline"><a href="/medgen/86948" ref="tree=GTR&ncbi_uid=86948&link_uid=86948" title="View MedGen record for 'Waardenburg syndrome type 3'">Waardenburg syndrome type 3</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1848519[DISCUI]&test_type=Clinical" ref="ncbi_uid=341244">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C1848519[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=341244">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=341244" target="_blank" href="/omim/131244">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=341244" ref="ncbi_uid=341244">V</a></span></span><span class="TLline"><a href="/medgen/341244" ref="tree=GTR&ncbi_uid=341244&link_uid=341244" title="View MedGen record for 'Waardenburg syndrome type 4A'">Waardenburg syndrome type 4A</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2750457[DISCUI]&test_type=Clinical" ref="ncbi_uid=412961">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C2750457[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=412961">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=412961" target="_blank" href="/omim/131242">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=412961" ref="ncbi_uid=412961">V</a></span></span><span class="TLline"><a href="/medgen/412961" ref="tree=GTR&ncbi_uid=412961&link_uid=412961" title="View MedGen record for 'Waardenburg syndrome type 4B'">Waardenburg syndrome type 4B</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2750452[DISCUI]&test_type=Clinical" ref="ncbi_uid=413310">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C2750452[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=413310">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=413310" target="_blank" href="/omim/602229">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=413310" ref="ncbi_uid=413310">V</a></span></span><span class="TLline"><a href="/medgen/413310" ref="tree=GTR&ncbi_uid=413310&link_uid=413310" title="View MedGen record for 'Waardenburg syndrome type 4C'">Waardenburg syndrome type 4C</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1763488" ref="tree=MeSH" title="MedGen record for Abnormality of the musculoskeletal system">Abnormality of the musculoskeletal system</a></span><ul><li><span class="TLline"><a href="/medgen/867380" ref="tree=MeSH" title="MedGen record for Abnormality of the musculature">Abnormality of the musculature</a></span><ul><li><span class="TLline"><a href="/medgen/868776" ref="tree=MeSH" title="MedGen record for Abnormal skeletal muscle morphology">Abnormal skeletal muscle morphology</a></span><ul><li><span class="TLline"><a href="/medgen/10135" ref="tree=MeSH" title="MedGen record for Myopathy">Myopathy</a></span><ul><li><span class="TLline"><a href="/medgen/156050" ref="tree=MeSH" title="MedGen record for Congenital structural myopathy">Congenital structural myopathy</a></span><ul><li><span class="TLline"><a href="/medgen/56484" ref="tree=MeSH" title="MedGen record for Inborn mitochondrial myopathy">Inborn mitochondrial myopathy</a></span><ul><li><span class="matched_ds">Mitochondrial complex I deficiency</span><ul><li><span class="TLline"><a href="/medgen/1648371" ref="tree=MeSH" title="MedGen record for Mitochondrial complex 1 deficiency, mitochondrial type 1">Mitochondrial complex 1 deficiency, mitochondrial type 1</a></span></li><li><span class="TLline"><a href="/medgen/940569" ref="tree=MeSH" title="MedGen record for Mitochondrial complex I deficiency, nuclear type 1">Mitochondrial complex I deficiency, nuclear type 1</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/26951622">Mitochondrial disorders in children: toward development of small-molecule treatment strategies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Koopman WJ,
|
||
Beyrath J,
|
||
Fung CW,
|
||
Koene S,
|
||
Rodenburg RJ,
|
||
Willems PH,
|
||
Smeitink JA</span><br />
|
||
<span class="medgenPMjournal">EMBO Mol Med</span>
|
||
2016 Apr 1;8(4):311-27.
|
||
doi: 10.15252/emmm.201506131.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26951622" target="_blank">26951622</a><a href="/pmc/articles/PMC4818752" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22036961">Assembly factors as a new class of disease genes for mitochondrial complex I deficiency: cause, pathology and treatment options.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nouws J,
|
||
Nijtmans LG,
|
||
Smeitink JA,
|
||
Vogel RO</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2012 Jan;135(Pt 1):12-22.
|
||
Epub 2011 Oct 27
|
||
doi: 10.1093/brain/awr261.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22036961" target="_blank">22036961</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22mitochondrial%20complex%20i%20deficiency%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (2)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38942784">S100A8/A9(hi) neutrophils induce mitochondrial dysfunction and PANoptosis in endothelial cells via mitochondrial complex I deficiency during sepsis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang Y,
|
||
Shi Y,
|
||
Shao Y,
|
||
Lu X,
|
||
Zhang H,
|
||
Miao C</span><br />
|
||
<span class="medgenPMjournal">Cell Death Dis</span>
|
||
2024 Jun 28;15(6):462.
|
||
doi: 10.1038/s41419-024-06849-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38942784" target="_blank">38942784</a><a href="/pmc/articles/PMC11213914" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38069350">Involvement of Mitochondria in Parkinson's Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Choong CJ,
|
||
Mochizuki H</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2023 Dec 1;24(23)
|
||
doi: 10.3390/ijms242317027.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38069350" target="_blank">38069350</a><a href="/pmc/articles/PMC10707101" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34849584">Ndufs4 knockout mouse models of Leigh syndrome: pathophysiology and intervention.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van de Wal MAE,
|
||
Adjobo-Hermans MJW,
|
||
Keijer J,
|
||
Schirris TJJ,
|
||
Homberg JR,
|
||
Wieckowski MR,
|
||
Grefte S,
|
||
van Schothorst EM,
|
||
van Karnebeek C,
|
||
Quintana A,
|
||
Koopman WJH</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2022 Mar 29;145(1):45-63.
|
||
doi: 10.1093/brain/awab426.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34849584" target="_blank">34849584</a><a href="/pmc/articles/PMC8967107" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22188452">Isolated mitochondrial complex I deficiency: explorative data analysis of patient cell parameters.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Blanchet L,
|
||
Buydens MC,
|
||
Smeitink JA,
|
||
Willems PH,
|
||
Koopman WJ</span><br />
|
||
<span class="medgenPMjournal">Curr Pharm Des</span>
|
||
2011 Dec 1;17(36):4023-33.
|
||
doi: 10.2174/138161211798764870.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22188452" target="_blank">22188452</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20107904">Mouse models for nuclear DNA-encoded mitochondrial complex I deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Koene S,
|
||
Willems PH,
|
||
Roestenberg P,
|
||
Koopman WJ,
|
||
Smeitink JA</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2011 Apr;34(2):293-307.
|
||
Epub 2010 Jan 27
|
||
doi: 10.1007/s10545-009-9005-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20107904" target="_blank">20107904</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Mitochondrial%20complex%20I%20deficiency%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (26)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38477541">Next generation sequencing reveals novel compound heterozygous deletions in NDUFAF2 in a child with mitochondrial complex I deficiency, nuclear type 10.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marshall AE,
|
||
Brady L,
|
||
Yeh E,
|
||
Mears AJ,
|
||
Lacaria M,
|
||
Chakraborty P,
|
||
Tarnopolsky MA,
|
||
Kernohan KD</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2024 Jul;194(7):e63590.
|
||
Epub 2024 Mar 13
|
||
doi: 10.1002/ajmg.a.63590.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38477541" target="_blank">38477541</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32518176">NUBPL mitochondrial disease: new patients and review of the genetic and clinical spectrum.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kimonis V,
|
||
Al Dubaisi R,
|
||
Maclean AE,
|
||
Hall K,
|
||
Weiss L,
|
||
Stover AE,
|
||
Schwartz PH,
|
||
Berg B,
|
||
Cheng C,
|
||
Parikh S,
|
||
Conner BR,
|
||
Wu S,
|
||
Hasso AN,
|
||
Scott DA,
|
||
Koenig MK,
|
||
Karam R,
|
||
Tang S,
|
||
Smith M,
|
||
Chao E,
|
||
Balk J,
|
||
Hatchwell E,
|
||
Eis PS</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2021 May;58(5):314-325.
|
||
Epub 2020 Jun 9
|
||
doi: 10.1136/jmedgenet-2020-106846.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32518176" target="_blank">32518176</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33124751">Complex I deficiency and Leigh syndrome through the eyes of a clinician.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Reinson K,
|
||
Õunap K</span><br />
|
||
<span class="medgenPMjournal">EMBO Mol Med</span>
|
||
2020 Nov 6;12(11):e13187.
|
||
Epub 2020 Oct 30
|
||
doi: 10.15252/emmm.202013187.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33124751" target="_blank">33124751</a><a href="/pmc/articles/PMC7645367" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23836946">Teaching NeuroImages: rapidly progressive leukoencephalopathy in mitochondrial complex I deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Baertling F,
|
||
Schaper J,
|
||
Mayatepek E,
|
||
Distelmaier F</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2013 Jul 9;81(2):e10-1.
|
||
doi: 10.1212/WNL.0b013e31829a339b.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23836946" target="_blank">23836946</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22972949">Complex I deficiency: clinical features, biochemistry and molecular genetics.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fassone E,
|
||
Rahman S</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2012 Sep;49(9):578-90.
|
||
doi: 10.1136/jmedgenet-2012-101159.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22972949" target="_blank">22972949</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Mitochondrial%20complex%20I%20deficiency%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (51)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33385517">Stimulation of cholesterol biosynthesis in mitochondrial complex I-deficiency lowers reductive stress and improves motor function and survival in mice.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schirris TJJ,
|
||
Rossell S,
|
||
de Haas R,
|
||
Frambach SJCM,
|
||
Hoogstraten CA,
|
||
Renkema GH,
|
||
Beyrath JD,
|
||
Willems PHGM,
|
||
Huynen MA,
|
||
Smeitink JAM,
|
||
Russel FGM,
|
||
Notebaart RA</span><br />
|
||
<span class="medgenPMjournal">Biochim Biophys Acta Mol Basis Dis</span>
|
||
2021 Apr 1;1867(4):166062.
|
||
Epub 2021 Jan 13
|
||
doi: 10.1016/j.bbadis.2020.166062.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33385517" target="_blank">33385517</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27126960">Resveratrol attenuates oxidative stress in mitochondrial Complex I deficiency: Involvement of SIRT3.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mathieu L,
|
||
Lopes Costa A,
|
||
Le Bachelier C,
|
||
Slama A,
|
||
Lebre AS,
|
||
Taylor RW,
|
||
Bastin J,
|
||
Djouadi F</span><br />
|
||
<span class="medgenPMjournal">Free Radic Biol Med</span>
|
||
2016 Jul;96:190-8.
|
||
Epub 2016 Apr 25
|
||
doi: 10.1016/j.freeradbiomed.2016.04.027.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27126960" target="_blank">27126960</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26951622">Mitochondrial disorders in children: toward development of small-molecule treatment strategies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Koopman WJ,
|
||
Beyrath J,
|
||
Fung CW,
|
||
Koene S,
|
||
Rodenburg RJ,
|
||
Willems PH,
|
||
Smeitink JA</span><br />
|
||
<span class="medgenPMjournal">EMBO Mol Med</span>
|
||
2016 Apr 1;8(4):311-27.
|
||
doi: 10.15252/emmm.201506131.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26951622" target="_blank">26951622</a><a href="/pmc/articles/PMC4818752" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26273800">Therapeutic applications of the TAT-mediated protein transduction system for complex I deficiency and other mitochondrial diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lin BY,
|
||
Kao MC</span><br />
|
||
<span class="medgenPMjournal">Ann N Y Acad Sci</span>
|
||
2015 Sep;1350:17-28.
|
||
Epub 2015 Aug 14
|
||
doi: 10.1111/nyas.12858.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26273800" target="_blank">26273800</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20929961">Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gerards M,
|
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van den Bosch BJ,
|
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Danhauser K,
|
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Serre V,
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van Weeghel M,
|
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Wanders RJ,
|
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Nicolaes GA,
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Sluiter W,
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Schoonderwoerd K,
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Prokisch H,
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de Coo IF,
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2011 Jan;134(Pt 1):210-9.
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Epub 2010 Oct 7
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|
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<span class="bold">PMID: </span><a href="/pubmed/20929961" target="_blank">20929961</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Mitochondrial%20complex%20I%20deficiency%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (13)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38942784">S100A8/A9(hi) neutrophils induce mitochondrial dysfunction and PANoptosis in endothelial cells via mitochondrial complex I deficiency during sepsis.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Wang Y,
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Shi Y,
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Shao Y,
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Lu X,
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Zhang H,
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Miao C</span><br />
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<span class="medgenPMjournal">Cell Death Dis</span>
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2024 Jun 28;15(6):462.
|
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doi: 10.1038/s41419-024-06849-6.
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<span class="bold">PMID: </span><a href="/pubmed/38942784" target="_blank">38942784</a><a href="/pmc/articles/PMC11213914" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/37752895">Phenotypic Heterogeneity in Patients with Mutations in the Mitochondrial Complex I Assembly Gene NDUFAF5.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Chen PS,
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Lee NC,
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Sung CJ,
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Liu YW,
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Weng WC,
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Fan PC,
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Lee WT,
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Chien YH,
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Wu CS,
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Sung YF,
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Tsai MC,
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Lee YC,
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Hsueh HW,
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Fan SM,
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Wu MC,
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Li H,
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Chen HY,
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Lin HI,
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Ou-Yang CH,
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Hwuh WL,
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Lin CH</span><br />
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<span class="medgenPMjournal">Mov Disord</span>
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2023 Dec;38(12):2217-2229.
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Epub 2023 Sep 27
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doi: 10.1002/mds.29604.
|
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<span class="bold">PMID: </span><a href="/pubmed/37752895" target="_blank">37752895</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/35482246">Compound heterozygous mutations of NDUFV1 identified in a child with mitochondrial complex I deficiency.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Tang X,
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Xu W,
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Song X,
|
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Ye H,
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Ren X,
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Yang Y,
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Zhang H,
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Wu S,
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Lan X</span><br />
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<span class="medgenPMjournal">Genes Genomics</span>
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2022 Jun;44(6):691-698.
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Epub 2022 Apr 28
|
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doi: 10.1007/s13258-022-01260-x.
|
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<span class="bold">PMID: </span><a href="/pubmed/35482246" target="_blank">35482246</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34849584">Ndufs4 knockout mouse models of Leigh syndrome: pathophysiology and intervention.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">van de Wal MAE,
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Adjobo-Hermans MJW,
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Keijer J,
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Schirris TJJ,
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Homberg JR,
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Wieckowski MR,
|
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Grefte S,
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van Schothorst EM,
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van Karnebeek C,
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Quintana A,
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Koopman WJH</span><br />
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<span class="medgenPMjournal">Brain</span>
|
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2022 Mar 29;145(1):45-63.
|
||
doi: 10.1093/brain/awab426.
|
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<span class="bold">PMID: </span><a href="/pubmed/34849584" target="_blank">34849584</a><a href="/pmc/articles/PMC8967107" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29429571">NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Piekutowska-Abramczuk D,
|
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Assouline Z,
|
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Mataković L,
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Feichtinger RG,
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Koňařiková E,
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Jurkiewicz E,
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Stawiński P,
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Gusic M,
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Koller A,
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Pollak A,
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Gasperowicz P,
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Trubicka J,
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Ciara E,
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Iwanicka-Pronicka K,
|
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Rokicki D,
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Hanein S,
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Wortmann SB,
|
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Sperl W,
|
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Rötig A,
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Prokisch H,
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Pronicka E,
|
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Płoski R,
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Barcia G,
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Mayr JA</span><br />
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<span class="medgenPMjournal">Am J Hum Genet</span>
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2018 Mar 1;102(3):460-467.
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Epub 2018 Feb 8
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doi: 10.1016/j.ajhg.2018.01.008.
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<span class="bold">PMID: </span><a href="/pubmed/29429571" target="_blank">29429571</a><a href="/pmc/articles/PMC5985356" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Mitochondrial%20complex%20I%20deficiency%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (31)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
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<div class="nl"><a target="_blank" href="/pubmed/39375345">Compensatory activity of the PC-ME1 metabolic axis underlies differential sensitivity to mitochondrial complex I inhibition.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Del Prado L,
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Jaraíz-Rodríguez M,
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Agro M,
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Zamora-Dorta M,
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Azpiazu N,
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Calleja M,
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Lopez-Manzaneda M,
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de Juan-Sanz J,
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Fernández-Rodrigo A,
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Esteban JA,
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Girona M,
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Quintana A,
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Balsa E</span><br />
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<span class="medgenPMjournal">Nat Commun</span>
|
||
2024 Oct 7;15(1):8682.
|
||
doi: 10.1038/s41467-024-52968-1.
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||
<span class="bold">PMID: </span><a href="/pubmed/39375345" target="_blank">39375345</a><a href="/pmc/articles/PMC11458614" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38069350">Involvement of Mitochondria in Parkinson's Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Choong CJ,
|
||
Mochizuki H</span><br />
|
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<span class="medgenPMjournal">Int J Mol Sci</span>
|
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2023 Dec 1;24(23)
|
||
doi: 10.3390/ijms242317027.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38069350" target="_blank">38069350</a><a href="/pmc/articles/PMC10707101" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35482246">Compound heterozygous mutations of NDUFV1 identified in a child with mitochondrial complex I deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tang X,
|
||
Xu W,
|
||
Song X,
|
||
Ye H,
|
||
Ren X,
|
||
Yang Y,
|
||
Zhang H,
|
||
Wu S,
|
||
Lan X</span><br />
|
||
<span class="medgenPMjournal">Genes Genomics</span>
|
||
2022 Jun;44(6):691-698.
|
||
Epub 2022 Apr 28
|
||
doi: 10.1007/s13258-022-01260-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35482246" target="_blank">35482246</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35469913">Restoring cellular NAD(P)H levels by PPARα and LXRα stimulation to improve mitochondrial complex I deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Frambach SJCM,
|
||
de Haas R,
|
||
Smeitink JAM,
|
||
Russel FGM,
|
||
Schirris TJJ</span><br />
|
||
<span class="medgenPMjournal">Life Sci</span>
|
||
2022 Jul 1;300:120571.
|
||
Epub 2022 Apr 22
|
||
doi: 10.1016/j.lfs.2022.120571.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35469913" target="_blank">35469913</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33124751">Complex I deficiency and Leigh syndrome through the eyes of a clinician.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Reinson K,
|
||
Õunap K</span><br />
|
||
<span class="medgenPMjournal">EMBO Mol Med</span>
|
||
2020 Nov 6;12(11):e13187.
|
||
Epub 2020 Oct 30
|
||
doi: 10.15252/emmm.202013187.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33124751" target="_blank">33124751</a><a href="/pmc/articles/PMC7645367" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Mitochondrial%20complex%20I%20deficiency%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (43)</a></div></div>
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||
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|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/22972949">Complex I deficiency: clinical features, biochemistry and molecular genetics.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fassone E,
|
||
Rahman S</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2012 Sep;49(9):578-90.
|
||
doi: 10.1136/jmedgenet-2012-101159.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22972949" target="_blank">22972949</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Mitochondrial%20complex%20I%20deficiency%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1)</a></div></div>
|
||
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|
||
</div></div></div></div></div></div></div>
|
||
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|
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|
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|
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<div class="supplemental col three_col last">
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1838979%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (87)</a></li>
|
||
<li><a href="/gtr/tests?term=C1838979%5bDISCUI%5d&filter=method%3A1%5F2" target="_blank">Enzyme assay (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C1838979%5bDISCUI%5d&filter=method%3A2%5F17" target="_blank">Mutation scanning of the entire coding region (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C1838979%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (8)</a></li>
|
||
<li><a href="/gtr/tests?term=C1838979%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (116)</a></li>
|
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<li><a href="/gtr/tests?term=C1838979%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (41)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1838979%5bDISCUI%5d" target="_blank">See all (140)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=2609" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Mitochondrial%20complex%20I%20deficiency" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22mitochondrial%20complex%20i%20deficiency%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/mitochondrial_complex_i_deficiency_nuclear_type_1" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Mitochondrial%20complex%20I%20deficiency" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/3908/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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