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<meta name="keywords" content="C3276276, atpaf2, atpaf2 mitochondrial proton-transporting atp synthase complex deficiency, complex 5 mitochondrial respiratory chain deficiency, disease or syndrome, mc5dn1, mitochondrial complex 5 (atp synthase) deficiency, atpaf2 type, mitochondrial complex 5 (atp synthase) deficiency, nuclear type 1, mitochondrial complex v (atp synthase) deficiency, atpaf2 type, mitochondrial complex v (atp synthase) deficiency, nuclear type 1, mitochondrial proton-transporting atp synthase complex deficiency caused by mutation in atpaf2, nuclear-encoded atpase deficiency, atpaf2-related, nuclearly-encoded mitochondrial complex v (atp synthase) deficiency 1, 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="A distinct group of inborn defects of complex V (ATP synthase) is represented by the enzyme deficiency due to nuclear genome mutations characterized by a selective inhibition of ATP synthase biogenesis. Biochemically, the patients show a generalized decrease in the content of ATP synthase complex which is less than 30% of normal. Most cases present with neonatal-onset hypotonia, lactic acidosis, hyperammonemia, hypertrophic cardiomyopathy, and 3-methylglutaconic aciduria. Many patients die within a few months or years (summary by Mayr et al., 2010). Genetic Heterogeneity of Mitochondrial Complex V Deficiency Other nuclear types of mitochondrial complex V deficiency include MC5DN2 (614052), caused by mutation in the TMEM70 gene (612418) on chromosome 8q21; MC5DN3 (614053), caused by mutation in the ATP5E gene (ATP5F1E; 606153) on chromosome 20q13; MC5DN4A (620358) and MC5DN4B (615228), both caused by mutation in the ATP5A1 gene (ATP5F1A; 164360) on chromosome 18q; MC5DN5 (618120), caused by mutation in the ATP5D gene (ATP5F1D; 603150) on chromosome 19p13; MC5DN6 (618683), caused by mutation in the USMG5 gene (ATP5MD; 615204) on chromosome 10q24; and MC5DN7 (620359), caused by mutation in the ATP5PO gene (600828) on chromosome 21q22. Mutations in the mitochondrial-encoded MTATP6 (516060) and MTATP8 (516070) genes can also cause mitochondrial complex V deficiency (see, e.g., 500015)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=477906
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ConceptID=C3276276
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1<span class="h1sub">(MC5DN1)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>477906</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.">C3276276</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>MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATPAF2 TYPE; Nuclear-Encoded ATPase Deficiency, ATPAF2-Related; Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="ATPAF2 - ID: 91647 - NCBI Gene" href="/gene/91647" class="medgenPMinfo">ATPAF2</a> (17p11.2)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0011421" target="_blank">MONDO:0011421</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/604273" target="_blank">604273</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">
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<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">A distinct group of inborn defects of complex V (ATP synthase) is represented by the enzyme deficiency due to nuclear genome mutations characterized by a selective inhibition of ATP synthase biogenesis. Biochemically, the patients show a generalized decrease in the content of ATP synthase complex which is less than 30% of normal. Most cases present with neonatal-onset hypotonia, lactic acidosis, hyperammonemia, hypertrophic cardiomyopathy, and 3-methylglutaconic aciduria. Many patients die within a few months or years (summary by Mayr et al., 2010). Genetic Heterogeneity of Mitochondrial Complex V Deficiency Other nuclear types of mitochondrial complex V deficiency include MC5DN2 (614052), caused by mutation in the TMEM70 gene (612418) on chromosome 8q21; MC5DN3 (614053), caused by mutation in the ATP5E gene (ATP5F1E; 606153) on chromosome 20q13; MC5DN4A (620358) and MC5DN4B (615228), both caused by mutation in the ATP5A1 gene (ATP5F1A; 164360) on chromosome 18q; MC5DN5 (618120), caused by mutation in the ATP5D gene (ATP5F1D; 603150) on chromosome 19p13; MC5DN6 (618683), caused by mutation in the USMG5 gene (ATP5MD; 615204) on chromosome 10q24; and MC5DN7 (620359), caused by mutation in the ATP5PO gene (600828) on chromosome 21q22. Mutations in the mitochondrial-encoded MTATP6 (516060) and MTATP8 (516070) genes can also cause mitochondrial complex V deficiency (see, e.g., 500015). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
|
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<div class="portlet mgSection" id="ID_102">
|
||
<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_116067"><div><strong>Aminoaciduria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>116067</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.">C0238621</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increased concentration of an amino acid in the urine.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/116067">Feature record</a> | <a href="/medgen?term=%22Aminoaciduria%22%5BClinical%20Features%5D%20OR%20116067%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_120571"><div><strong>Renal hypoplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120571</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.">C0266295</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypoplasia of the kidney.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120571">Feature record</a> | <a href="/medgen?term=%22Renal%20hypoplasia%22%5BClinical%20Features%5D%20OR%20120571%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_777186"><div><strong>3-Methylglutaconic aciduria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>777186</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.">C3696376</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increased amount of 3-methylglutaconic acid in the urine.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/777186">Feature record</a> | <a href="/medgen?term=%223-Methylglutaconic%20aciduria%22%5BClinical%20Features%5D%20OR%20777186%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_66821"><div><strong>Congenital vertical talus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66821</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.">C0240912</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital vertical talus (CVT), also known as 'rocker-bottom foot' deformity, is a dislocation of the talonavicular joint characterized by vertical orientation of the talus with a rigid dorsal dislocation of the navicular, equinus deformity of the calcaneus, abduction deformity of the forefoot, and contracture of the soft tissues of the hind- and mid-foot. This condition is usually associated with multiple other congenital deformities and only rarely is an isolated deformity with familial occurrence (summary by Levinsohn et al., 2004). The condition is transmitted in an autosomal dominant pattern of inheritance, and sometimes shows incomplete penetrance and variable expressivity. There may be a broad spectrum of deformities, including flatfoot, talipes equinovarus (TEV or clubfoot), cavus foot, metatarsus adductus, and even hypoplasia of the tibia (summary by Dobbs et al., 2006).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66821">Feature record</a> | <a href="/medgen?term=%22Congenital%20vertical%20talus%22%5BClinical%20Features%5D%20OR%2066821%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_324693"><div><strong>Poor suck</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>324693</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.">C1837142</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/324693">Feature record</a> | <a href="/medgen?term=%22Poor%20suck%22%5BClinical%20Features%5D%20OR%20324693%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_98128"><div><strong>Dysplastic corpus callosum</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98128</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.">C0431369</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Dysplasia and dysgenesis of the corpus callosum are nonspecific descriptions that imply defective development of the corpus callosum. The term dysplasia is applied when the morphology of the corpus callosum is altered as a congenital trait. For instance, the corpus callosum may be hump-shaped, kinked, or a striped corpus callosum that lacks an anatomically distinct genu and splenium.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98128">Feature record</a> | <a href="/medgen?term=%22Dysplastic%20corpus%20callosum%22%5BClinical%20Features%5D%20OR%2098128%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_332436"><div><strong>Severe global developmental delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332436</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.">C1837397</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A severe delay in the achievement of motor or mental milestones in the domains of development of a child.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/332436">Feature record</a> | <a href="/medgen?term=%22Severe%20global%20developmental%20delay%22%5BClinical%20Features%5D%20OR%20332436%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66371"><div><strong>Anisocytosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66371</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.">C0221278</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally increased variability in the size of erythrocytes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66371">Feature record</a> | <a href="/medgen?term=%22Anisocytosis%22%5BClinical%20Features%5D%20OR%2066371%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_44428"><div><strong>Micrognathia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>44428</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.">C0025990</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Developmental hypoplasia of the mandible.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/44428">Feature record</a> | <a href="/medgen?term=%22Micrognathia%22%5BClinical%20Features%5D%20OR%2044428%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10132"><div><strong>Hypertonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10132</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.">C0026826</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10132">Feature record</a> | <a href="/medgen?term=%22Hypertonia%22%5BClinical%20Features%5D%20OR%2010132%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_19766"><div><strong>Retrognathia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>19766</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.">C0035353</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormality in which the mandible is mislocalised posteriorly.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/19766">Feature record</a> | <a href="/medgen?term=%22Retrognathia%22%5BClinical%20Features%5D%20OR%2019766%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_83069"><div><strong>Flexion contracture</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>83069</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.">C0333068</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/83069">Feature record</a> | <a href="/medgen?term=%22Flexion%20contracture%22%5BClinical%20Features%5D%20OR%2083069%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_195780"><div><strong>Camptodactyly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>195780</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.">C0685409</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/195780">Feature record</a> | <a href="/medgen?term=%22Camptodactyly%22%5BClinical%20Features%5D%20OR%20195780%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_332209"><div><strong>Increased circulating lactate concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332209</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.">C1836440</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/332209">Feature record</a> | <a href="/medgen?term=%22Increased%20circulating%20lactate%20concentration%22%5BClinical%20Features%5D%20OR%20332209%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_44238"><div><strong>Wide mouth</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>44238</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.">C0024433</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/44238">Feature record</a> | <a href="/medgen?term=%22Wide%20mouth%22%5BClinical%20Features%5D%20OR%2044238%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_343051"><div><strong>Prominent nasal bridge</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343051</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.">C1854113</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Anterior positioning of the nasal root in comparison to the usual positioning for age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/343051">Feature record</a> | <a href="/medgen?term=%22Prominent%20nasal%20bridge%22%5BClinical%20Features%5D%20OR%20343051%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_892442"><div><strong>Decreased activity of mitochondrial ATP synthase complex</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>892442</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.">C4023125</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 proton-transporting ATP synthase complex, which makes ATP via oxidative phosphorylation, and is sometimes described as Complex V of the electron transport chain.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/892442">Feature record</a> | <a href="/medgen?term=%22Decreased%20activity%20of%20mitochondrial%20ATP%20synthase%20complex%22%5BClinical%20Features%5D%20OR%20892442%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_892442" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased activity of mitochondrial ATP synthase complex</a></span></li></ul></li><li><span class="TLline">Abnormality of blood and blood-forming tissues</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66371" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Anisocytosis</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_343051" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Prominent nasal bridge</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_44238" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Wide mouth</a></span></li></ul></li><li><span class="TLline">Abnormality of limbs</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66821" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital vertical talus</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_332209" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased circulating lactate concentration</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_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_324693" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Poor suck</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_777186" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">3-Methylglutaconic aciduria</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_116067" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Aminoaciduria</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><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_120571" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Renal hypoplasia</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_195780" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Camptodactyly</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_83069" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Flexion contracture</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10132" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertonia</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_44428" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Micrognathia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_19766" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retrognathia</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_98128" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dysplastic corpus callosum</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_332436" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Severe global developmental delay</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></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
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||
<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>
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<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="matched_ds"><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">Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1</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="TLclosed"><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"><a href="/medgen/374101" ref="tree=GTR&ncbi_uid=374101&link_uid=374101" title="View MedGen record for 'Mitochondrial complex I deficiency'">Mitochondrial complex I deficiency</a></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/65923" ref="tree=MeSH" title="MedGen record for Hereditary hearing loss and deafness">Hereditary hearing loss and deafness</a></span><ul><li><span class="TLline"><a href="/medgen/155901" ref="tree=MeSH" title="MedGen record for Mitochondrial disease">Mitochondrial disease</a></span><ul><li><span class="TLline"><a href="/medgen/452448" ref="tree=MeSH" title="MedGen record for Complex V deficiency">Complex V deficiency</a></span><ul><li><span class="matched_ds">Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1</span></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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</div>
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<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
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to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
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<div class="portlet mgSection" id="ID_103">
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<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>
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<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
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<div class="nl"><a target="_blank" href="/pubmed/40014158">The fourth family in the world with a novel variant in the ATP5MK gene: four siblings with complex V (ATP synthase) deficiency.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">İpek R,
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Akalın A,
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Habiloğlu E,
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Hattapoğlu S,
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Pirinççioğlu AG</span><br />
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<span class="medgenPMjournal">Neurogenetics</span>
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2025 Feb 27;26(1):33.
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doi: 10.1007/s10048-025-00813-y.
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<span class="bold">PMID: </span><a href="/pubmed/40014158" target="_blank">40014158</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Mitochondrial%20complex%20V%20(ATP%20synthase)%20deficiency%2C%20nuclear%20type%201%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 (1)</a></div><h3 class="subhead">Diagnosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/40014158">The fourth family in the world with a novel variant in the ATP5MK gene: four siblings with complex V (ATP synthase) deficiency.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">İpek R,
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||
Akalın A,
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Habiloğlu E,
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Hattapoğlu S,
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||
Pirinççioğlu AG</span><br />
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||
<span class="medgenPMjournal">Neurogenetics</span>
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||
2025 Feb 27;26(1):33.
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||
doi: 10.1007/s10048-025-00813-y.
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||
<span class="bold">PMID: </span><a href="/pubmed/40014158" target="_blank">40014158</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Mitochondrial%20complex%20V%20(ATP%20synthase)%20deficiency%2C%20nuclear%20type%201%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 (1)</a></div></div>
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</div>
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</div></div></div></div></div></div></div>
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<div id="messagearea_bottom">
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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>
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<!-- MedGen supplemental column starts here -->
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<div class="rightCol mgCol">
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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</div>
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<div class="portlet mgSection" id="ID_106">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C3276276%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (23)</a></li>
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<li><a href="/gtr/tests?term=C3276276%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (32)</a></li>
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<li><a href="/gtr/tests?term=C3276276%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (6)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C3276276%5bDISCUI%5d" target="_blank">See all (36)</a></total></li>
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</ul></div>
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</div>
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<div class="portlet mgSection" id="ID_119">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=604273" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Mitochondrial%20complex%20V%20(ATP%20synthase)%20deficiency,%20nuclear%20type%201" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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</div>
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<div class="portlet mgSection" id="ID_115">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=608918" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=91647[geneid]" target="_blank">View ATPAF2 variations in ClinVar</a></li><li><a href="/nuccore/257471019" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=604273" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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</div>
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<div class="portlet mgSection" id="ID_116">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Nuclearly-encoded+mitochondrial+complex+V+%28ATP+synthase%29+deficiency+1/9024" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/mitochondrial_complex_v_atp_synthase_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%20V%20(ATP%20synthase)%20deficiency,%20nuclear%20type%201" target="_blank">MedlinePlus</a></li></ul></div>
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</div>
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</div>
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<div class="portlet brieflink">
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<div class="portlet_head">
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<div class="portlet_title">
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<h3>Reviews</h3>
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</div>
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
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</div>
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<div class="portlet_content">
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<ul>
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<li>
|
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<a href="/pubmed/clinical?term=Mitochondrial%20complex%20V%20(ATP%20synthase)%20deficiency,%20nuclear%20type%201" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
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||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Mitochondrial%20complex%20V%20(ATP%20synthase)%20deficiency,%20nuclear%20type%201%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
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</li>
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</ul>
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</div>
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</div>
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<!-- MedGen supplemental column ends here -->
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<div class="portlet brieflink">
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<div class="portlet_head">
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<div class="portlet_title">
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<h3>Related information</h3>
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</div>
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter"></a>
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</div>
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<div class="portlet_content DiscoveryDbLinks">
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<ul>
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<li class="brieflinkpopper">
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