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<meta name="keywords" content="C3810001, combined oxidative phosphorylation deficiency 18, combined oxidative phosphorylation deficiency caused by mutation in sfxn4, combined oxidative phosphorylation deficiency type 18, coxpd18, disease or syndrome, growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome, sfxn4, sfxn4 combined oxidative phosphorylation deficiency, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Combined oxidative phosphorylation deficiency-18 (COXPD18) is an autosomal recessive disorder of mitochondrial function characterized by intrauterine growth retardation, hypotonia, visual impairment, speech delay, and lactic acidosis associated with decreased mitochondrial respiratory chain activity. Affected patients may also show hematologic abnormalities, mainly macrocytic anemia (summary by Hildick-Smith et al., 2013). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=816331
|
||
ConceptID=C3810001
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome<span class="h1sub">(COXPD18)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>816331</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."><span class="highlight" style="background-color:">C3810001</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Combined oxidative phosphorylation deficiency 18</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0441748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div></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="SFXN4 - ID: 119559 - NCBI Gene" href="/gene/119559" class="medgenPMinfo">SFXN4</a> (10q26.11)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0014261" target="_blank">MONDO:0014261</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/615578" target="_blank">615578</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=391348">ORPHA391348</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">Combined oxidative phosphorylation deficiency-18 (COXPD18) is an autosomal recessive disorder of mitochondrial function characterized by intrauterine growth retardation, hypotonia, visual impairment, speech delay, and lactic acidosis associated with decreased mitochondrial respiratory chain activity. Affected patients may also show hematologic abnormalities, mainly macrocytic anemia (summary by Hildick-Smith et al., 2013). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060). [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_343266"><div><strong>Methylmalonic aciduria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343266</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.">C1855119</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased concentration of methylmalonic acid in the urine.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/343266">Feature record</a> | <a href="/medgen?term=%22Methylmalonic%20aciduria%22%5BClinical%20Features%5D%20OR%20343266%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_4693"><div><strong>Fetal growth restriction</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4693</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.">C0015934</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/4693">Feature record</a> | <a href="/medgen?term=%22Fetal%20growth%20restriction%22%5BClinical%20Features%5D%20OR%204693%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10044"><div><strong>Intellectual disability, mild</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10044</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.">C0026106</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10044">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%2C%20mild%22%5BClinical%20Features%5D%20OR%2010044%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_21635"><div><strong>Tremor</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21635</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.">C0040822</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An unintentional, oscillating to-and-fro muscle movement about a joint axis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/21635">Feature record</a> | <a href="/medgen?term=%22Tremor%22%5BClinical%20Features%5D%20OR%2021635%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_68583"><div><strong>Dysmetria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>68583</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.">C0234162</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/68583">Feature record</a> | <a href="/medgen?term=%22Dysmetria%22%5BClinical%20Features%5D%20OR%2068583%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_105318"><div><strong>Delayed speech and language development</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>105318</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.">C0454644</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A degree of language development that is significantly below the norm for a child of a specified age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/105318">Feature record</a> | <a href="/medgen?term=%22Delayed%20speech%20and%20language%20development%22%5BClinical%20Features%5D%20OR%20105318%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_869257"><div><strong>Delayed fine motor development</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>869257</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.">C4023681</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of motor delay characterized by a delay in acquiring the ability to control the fingers and hands.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/869257">Feature record</a> | <a href="/medgen?term=%22Delayed%20fine%20motor%20development%22%5BClinical%20Features%5D%20OR%20869257%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1920"><div><strong>Macrocytic anemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1920</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.">C0002886</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of anemia characterized by increased size of erythrocytes with increased mean corpuscular volume (MCV) and increased mean corpuscular hemoglobin (MCH).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1920">Feature record</a> | <a href="/medgen?term=%22Macrocytic%20anemia%22%5BClinical%20Features%5D%20OR%201920%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10133"><div><strong>Hypotonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10133</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0026827</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10133">Feature record</a> | <a href="/medgen?term=%22Hypotonia%22%5BClinical%20Features%5D%20OR%2010133%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_892680"><div><strong>Muscular atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>892680</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0541794</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of skeletal muscular atrophy (which is also known as amyotrophy).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/892680">Feature record</a> | <a href="/medgen?term=%22Muscular%20atrophy%22%5BClinical%20Features%5D%20OR%20892680%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_108251"><div><strong>Difficulty running</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>108251</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.">C0560346</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduced ability to run.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/108251">Feature record</a> | <a href="/medgen?term=%22Difficulty%20running%22%5BClinical%20Features%5D%20OR%20108251%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_870828"><div><strong>Hypersegmentation of neutrophil nuclei</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>870828</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.">C4025288</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An excessive division of the lobes of the nucleus of a neutrophil.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/870828">Feature record</a> | <a href="/medgen?term=%22Hypersegmentation%20of%20neutrophil%20nuclei%22%5BClinical%20Features%5D%20OR%20870828%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1717"><div><strong>Lactic acidosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1717</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0001125</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1717">Feature record</a> | <a href="/medgen?term=%22Lactic%20acidosis%22%5BClinical%20Features%5D%20OR%201717%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_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_86974"><div><strong>Oligohydramnios</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>86974</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.">C0079924</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Diminished amniotic fluid volume in pregnancy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/86974">Feature record</a> | <a href="/medgen?term=%22Oligohydramnios%22%5BClinical%20Features%5D%20OR%2086974%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_777085"><div><strong>Visual impairment</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>777085</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.">C3665347</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/777085">Feature record</a> | <a href="/medgen?term=%22Visual%20impairment%22%5BClinical%20Features%5D%20OR%20777085%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_393796"><div><strong>Decreased activity of mitochondrial complex I</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>393796</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2677650</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A reduction in the activity of the mitochondrial respiratory chain complex I, which is part of the electron transport chain in mitochondria.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/393796">Feature record</a> | <a href="/medgen?term=%22Decreased%20activity%20of%20mitochondrial%20complex%20I%22%5BClinical%20Features%5D%20OR%20393796%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_868101"><div><strong>Increased mitochondrial number</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>868101</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.">C4022492</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/868101">Feature record</a> | <a href="/medgen?term=%22Increased%20mitochondrial%20number%22%5BClinical%20Features%5D%20OR%20868101%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormal cellular phenotype</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_393796" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased activity of mitochondrial complex I</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_868101" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased mitochondrial number</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_1920" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Macrocytic anemia</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><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1717" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lactic acidosis</a></span></li></ul></li><li><span class="TLline">Abnormality of prenatal development or birth</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_86974" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Oligohydramnios</a></span></li></ul></li><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_777085" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Visual impairment</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_343266" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Methylmalonic aciduria</a></span></li></ul></li><li><span class="TLline">Abnormality of the immune system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_870828" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypersegmentation of neutrophil nuclei</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_108251" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Difficulty running</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10133" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypotonia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_892680" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscular atrophy</a></span></li></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_869257" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Delayed fine motor development</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_105318" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Delayed speech and language development</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_68583" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dysmetria</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10044" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, mild</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_21635" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tremor</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_4693" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fetal growth restriction</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</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=C4540031[DISCUI]&test_type=Clinical" ref="ncbi_uid=1626645">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=1626645" ref="ncbi_uid=1626645">V</a></span></span><span class="TLline"><a href="/medgen/1626645" ref="tree=GTR&ncbi_uid=1626645&link_uid=1626645" title="View MedGen record for 'Combined oxidative phosphorylation deficiency'">Combined oxidative phosphorylation 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=C1864843[DISCUI]&test_type=Clinical" ref="ncbi_uid=400626">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=400626" target="_blank" href="/omim/609204">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=400626" ref="ncbi_uid=400626">V</a></span></span><span class="TLline"><a href="/medgen/400626" ref="tree=GTR&ncbi_uid=400626&link_uid=400626" title="View MedGen record for 'Combined oxidative phosphorylation defect type 2'">Combined oxidative phosphorylation defect 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=C1857682[DISCUI]&test_type=Clinical" ref="ncbi_uid=387884">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=387884" target="_blank" href="/omim/602389">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=387884" ref="ncbi_uid=387884">V</a></span></span><span class="TLline"><a href="/medgen/387884" ref="tree=GTR&ncbi_uid=387884&link_uid=387884" title="View MedGen record for 'Combined oxidative phosphorylation defect type 4'">Combined oxidative phosphorylation defect 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=C3150801[DISCUI]&test_type=Clinical" ref="ncbi_uid=462151">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462151" target="_blank" href="/omim/613541">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=462151" ref="ncbi_uid=462151">V</a></span></span><span class="TLline"><a href="/medgen/462151" ref="tree=GTR&ncbi_uid=462151&link_uid=462151" title="View MedGen record for 'Combined oxidative phosphorylation defect type 7'">Combined oxidative phosphorylation defect type 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=C4518839[DISCUI]&test_type=Clinical" ref="ncbi_uid=1377817">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1377817" target="_blank" href="/omim/612035">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK608563/" ref="ncbi_uid=1377817">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1377817" ref="ncbi_uid=1377817">V</a></span></span><span class="TLline"><a href="/medgen/1377817" ref="tree=GTR&ncbi_uid=1377817&link_uid=1377817" title="View MedGen record for 'Combined oxidative phosphorylation defect type 8'">Combined oxidative phosphorylation defect type 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=C4706315[DISCUI]&test_type=Clinical" ref="ncbi_uid=1634481">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1634481" target="_blank" href="/omim/607118">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=1634481" ref="ncbi_uid=1634481">V</a></span></span><span class="TLline"><a href="/medgen/1634481" ref="tree=GTR&ncbi_uid=1634481&link_uid=1634481" title="View MedGen record for 'Combined oxidative phosphorylation defect type 9'">Combined oxidative phosphorylation defect type 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=C5190991[DISCUI]&test_type=Clinical" ref="ncbi_uid=1682397">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1682397" target="_blank" href="/omim/614917">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=1682397" ref="ncbi_uid=1682397">V</a></span></span><span class="TLline"><a href="/medgen/1682397" ref="tree=GTR&ncbi_uid=1682397&link_uid=1682397" title="View MedGen record for 'Combined oxidative phosphorylation defect type 11'">Combined oxidative phosphorylation defect type 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=C4706283[DISCUI]&test_type=Clinical" ref="ncbi_uid=1631854">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1631854" target="_blank" href="/omim/610316">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=1631854" ref="ncbi_uid=1631854">V</a></span></span><span class="TLline"><a href="/medgen/1631854" ref="tree=GTR&ncbi_uid=1631854&link_uid=1631854" title="View MedGen record for 'Combined oxidative phosphorylation defect type 13'">Combined oxidative phosphorylation defect type 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=C4755312[DISCUI]&test_type=Clinical" ref="ncbi_uid=1663069">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1663069" target="_blank" href="/omim/611592">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK538658/" ref="ncbi_uid=1663069">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1663069" ref="ncbi_uid=1663069">V</a></span></span><span class="TLline"><a href="/medgen/1663069" ref="tree=GTR&ncbi_uid=1663069&link_uid=1663069" title="View MedGen record for 'Combined oxidative phosphorylation defect type 14'">Combined oxidative phosphorylation defect type 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=C4706313[DISCUI]&test_type=Clinical" ref="ncbi_uid=1646555">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1646555" target="_blank" href="/omim/611766">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=1646555" ref="ncbi_uid=1646555">V</a></span></span><span class="TLline"><a href="/medgen/1646555" ref="tree=GTR&ncbi_uid=1646555&link_uid=1646555" title="View MedGen record for 'Combined oxidative phosphorylation defect type 15'">Combined oxidative phosphorylation defect type 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=C3809526[DISCUI]&test_type=Clinical" ref="ncbi_uid=815856">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=815856" target="_blank" href="/omim/605367">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=815856" ref="ncbi_uid=815856">V</a></span></span><span class="TLline"><a href="/medgen/815856" ref="tree=GTR&ncbi_uid=815856&link_uid=815856" title="View MedGen record for 'Combined oxidative phosphorylation defect type 17'">Combined oxidative phosphorylation defect type 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=C4014660[DISCUI]&test_type=Clinical" ref="ncbi_uid=863097">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=863097" target="_blank" href="/omim/612802">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=863097" ref="ncbi_uid=863097">V</a></span></span><span class="TLline"><a href="/medgen/863097" ref="tree=GTR&ncbi_uid=863097&link_uid=863097" title="View MedGen record for 'Combined oxidative phosphorylation defect type 20'">Combined oxidative phosphorylation defect type 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=C4706316[DISCUI]&test_type=Clinical" ref="ncbi_uid=1638633">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1638633" target="_blank" href="/omim/612805">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=1638633" ref="ncbi_uid=1638633">V</a></span></span><span class="TLline"><a href="/medgen/1638633" ref="tree=GTR&ncbi_uid=1638633&link_uid=1638633" title="View MedGen record for 'Combined oxidative phosphorylation defect type 21'">Combined oxidative phosphorylation defect type 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=C5567743[DISCUI]&test_type=Clinical" ref="ncbi_uid=1799166">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1799166" target="_blank" href="/omim/608536">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=1799166" ref="ncbi_uid=1799166">V</a></span></span><span class="TLline"><a href="/medgen/1799166" ref="tree=GTR&ncbi_uid=1799166&link_uid=1799166" title="View MedGen record for 'Combined oxidative phosphorylation defect type 23'">Combined oxidative phosphorylation defect type 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=C4015643[DISCUI]&test_type=Clinical" ref="ncbi_uid=864080">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=864080" target="_blank" href="/omim/612803">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=864080" ref="ncbi_uid=864080">V</a></span></span><span class="TLline"><a href="/medgen/864080" ref="tree=GTR&ncbi_uid=864080&link_uid=864080" title="View MedGen record for 'Combined oxidative phosphorylation defect type 24'">Combined oxidative phosphorylation defect type 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=C5567742[DISCUI]&test_type=Clinical" ref="ncbi_uid=1799165">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1799165" target="_blank" href="/omim/609728">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=1799165" ref="ncbi_uid=1799165">V</a></span></span><span class="TLline"><a href="/medgen/1799165" ref="tree=GTR&ncbi_uid=1799165&link_uid=1799165" title="View MedGen record for 'Combined oxidative phosphorylation defect type 25'">Combined oxidative phosphorylation defect type 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=C5567741[DISCUI]&test_type=Clinical" ref="ncbi_uid=1799164">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1799164" target="_blank" href="/omim/611023">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=1799164" ref="ncbi_uid=1799164">V</a></span></span><span class="TLline"><a href="/medgen/1799164" ref="tree=GTR&ncbi_uid=1799164&link_uid=1799164" title="View MedGen record for 'Combined oxidative phosphorylation defect type 26'">Combined oxidative phosphorylation defect type 26</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=C5567608[DISCUI]&test_type=Clinical" ref="ncbi_uid=1799031">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1799031" target="_blank" href="/omim/612800">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=1799031" ref="ncbi_uid=1799031">V</a></span></span><span class="TLline"><a href="/medgen/1799031" ref="tree=GTR&ncbi_uid=1799031&link_uid=1799031" title="View MedGen record for 'Combined oxidative phosphorylation defect type 27'">Combined oxidative phosphorylation defect type 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=C5567605[DISCUI]&test_type=Clinical" ref="ncbi_uid=1799028">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1799028" target="_blank" href="/omim/615423">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=1799028" ref="ncbi_uid=1799028">V</a></span></span><span class="TLline"><a href="/medgen/1799028" ref="tree=GTR&ncbi_uid=1799028&link_uid=1799028" title="View MedGen record for 'Combined oxidative phosphorylation defect type 30'">Combined oxidative phosphorylation defect type 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=C3810055[DISCUI]&test_type=Clinical" ref="ncbi_uid=816385">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=816385" target="_blank" href="/omim/613311">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=816385" ref="ncbi_uid=816385">V</a></span></span><span class="TLline"><a href="/medgen/816385" ref="tree=GTR&ncbi_uid=816385&link_uid=816385" title="View MedGen record for 'Combined oxidative phosphorylation deficiency 19'">Combined oxidative phosphorylation deficiency 19</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=C4015062[DISCUI]&test_type=Clinical" ref="ncbi_uid=863499">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=863499" target="_blank" href="/omim/164360">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=863499" ref="ncbi_uid=863499">V</a></span></span><span class="TLline"><a href="/medgen/863499" ref="tree=GTR&ncbi_uid=863499&link_uid=863499" title="View MedGen record for 'Combined oxidative phosphorylation deficiency 22'">Combined oxidative phosphorylation deficiency 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=C5569081[DISCUI]&test_type=Clinical" ref="ncbi_uid=1800504">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1800504" target="_blank" href="/omim/611037">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=1800504" ref="ncbi_uid=1800504">V</a></span></span><span class="TLline"><a href="/medgen/1800504" ref="tree=GTR&ncbi_uid=1800504&link_uid=1800504" title="View MedGen record for 'Combined oxidative phosphorylation deficiency 28'">Combined oxidative phosphorylation deficiency 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=C5567607[DISCUI]&test_type=Clinical" ref="ncbi_uid=1799030">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1799030" target="_blank" href="/omim/609063">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=1799030" ref="ncbi_uid=1799030">V</a></span></span><span class="TLline"><a href="/medgen/1799030" ref="tree=GTR&ncbi_uid=1799030&link_uid=1799030" title="View MedGen record for 'Combined oxidative phosphorylation deficiency 29'">Combined oxidative phosphorylation deficiency 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=C4540029[DISCUI]&test_type=Clinical" ref="ncbi_uid=1617600">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1617600" target="_blank" href="/omim/611994">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=1617600" ref="ncbi_uid=1617600">V</a></span></span><span class="TLline"><a href="/medgen/1617600" ref="tree=GTR&ncbi_uid=1617600&link_uid=1617600" title="View MedGen record for 'Combined oxidative phosphorylation deficiency 32'">Combined oxidative phosphorylation deficiency 32</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=C4540209[DISCUI]&test_type=Clinical" ref="ncbi_uid=1623699">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1623699" target="_blank" href="/omim/601269">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=1623699" ref="ncbi_uid=1623699">V</a></span></span><span class="TLline"><a href="/medgen/1623699" ref="tree=GTR&ncbi_uid=1623699&link_uid=1623699" title="View MedGen record for 'Combined oxidative phosphorylation deficiency 33'">Combined oxidative phosphorylation deficiency 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=C4693450[DISCUI]&test_type=Clinical" ref="ncbi_uid=1631307">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1631307" target="_blank" href="/omim/611974">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=1631307" ref="ncbi_uid=1631307">V</a></span></span><span class="TLline"><a href="/medgen/1631307" ref="tree=GTR&ncbi_uid=1631307&link_uid=1631307" title="View MedGen record for 'Combined oxidative phosphorylation deficiency 34'">Combined oxidative phosphorylation deficiency 34</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=C4693466[DISCUI]&test_type=Clinical" ref="ncbi_uid=1639653">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1639653" target="_blank" href="/omim/617840">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=1639653" ref="ncbi_uid=1639653">V</a></span></span><span class="TLline"><a href="/medgen/1639653" ref="tree=GTR&ncbi_uid=1639653&link_uid=1639653" title="View MedGen record for 'Combined oxidative phosphorylation deficiency 35'">Combined oxidative phosphorylation deficiency 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=C4693722[DISCUI]&test_type=Clinical" ref="ncbi_uid=1644927">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1644927" target="_blank" href="/omim/611971">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=1644927" ref="ncbi_uid=1644927">V</a></span></span><span class="TLline"><a href="/medgen/1644927" ref="tree=GTR&ncbi_uid=1644927&link_uid=1644927" title="View MedGen record for 'Combined oxidative phosphorylation deficiency 36'">Combined oxidative phosphorylation deficiency 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=C5193031[DISCUI]&test_type=Clinical" ref="ncbi_uid=1675208">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1675208" target="_blank" href="/omim/616658">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=1675208" ref="ncbi_uid=1675208">V</a></span></span><span class="TLline"><a href="/medgen/1675208" ref="tree=GTR&ncbi_uid=1675208&link_uid=1675208" title="View MedGen record for 'Combined oxidative phosphorylation deficiency 37'">Combined oxidative phosphorylation deficiency 37</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=C1864840[DISCUI]&test_type=Clinical" ref="ncbi_uid=355842">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=355842" target="_blank" href="/omim/604723">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=355842" ref="ncbi_uid=355842">V</a></span></span><span class="TLline"><a href="/medgen/355842" ref="tree=GTR&ncbi_uid=355842&link_uid=355842" title="View MedGen record for 'Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3'">Fatal mitochondrial disease due to combined oxidative phosphorylation defect 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=C3810001[DISCUI]&test_type=Clinical" ref="ncbi_uid=816331">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=816331" target="_blank" href="/omim/615564">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=816331" ref="ncbi_uid=816331">V</a></span></span><span class="TLline">Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1836797[DISCUI]&test_type=Clinical" ref="ncbi_uid=322999">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=322999" target="_blank" href="/omim/606639">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=322999" ref="ncbi_uid=322999">V</a></span></span><span class="TLline"><a href="/medgen/322999" ref="tree=GTR&ncbi_uid=322999&link_uid=322999" title="View MedGen record for 'Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1'">Hepatoencephalopathy due to combined oxidative phosphorylation defect 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=C2673642[DISCUI]&test_type=Clinical" ref="ncbi_uid=435972">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=435972" target="_blank" href="/omim/605810">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=435972" ref="ncbi_uid=435972">V</a></span></span><span class="TLline"><a href="/medgen/435972" ref="tree=GTR&ncbi_uid=435972&link_uid=435972" title="View MedGen record for 'Hypotonia with lactic acidemia and hyperammonemia'">Hypotonia with lactic acidemia and hyperammonemia</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=C3809339[DISCUI]&test_type=Clinical" ref="ncbi_uid=815669">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=815669" target="_blank" href="/omim/611849">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=815669" ref="ncbi_uid=815669">V</a></span></span><span class="TLline"><a href="/medgen/815669" ref="tree=GTR&ncbi_uid=815669&link_uid=815669" title="View MedGen record for 'Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency'">Infantile hypertrophic cardiomyopathy due to MRPL44 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=C4310661[DISCUI]&test_type=Clinical" ref="ncbi_uid=934628">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=934628" target="_blank" href="/omim/602241">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=934628" ref="ncbi_uid=934628">V</a></span></span><span class="TLline"><a href="/medgen/934628" ref="tree=GTR&ncbi_uid=934628&link_uid=934628" title="View MedGen record for 'Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome'">Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay 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=C4706421[DISCUI]&test_type=Clinical" ref="ncbi_uid=1645614">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1645614" target="_blank" href="/omim/612799">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=1645614" ref="ncbi_uid=1645614">V</a></span></span><span class="TLline"><a href="/medgen/1645614" ref="tree=GTR&ncbi_uid=1645614&link_uid=1645614" title="View MedGen record for 'Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome'">Leukoencephalopathy-thalamus and brainstem anomalies-high lactate 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=C4749921[DISCUI]&test_type=Clinical" ref="ncbi_uid=1664257">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1664257" target="_blank" href="/omim/614667">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=1664257" ref="ncbi_uid=1664257">V</a></span></span><span class="TLline"><a href="/medgen/1664257" ref="tree=GTR&ncbi_uid=1664257&link_uid=1664257" title="View MedGen record for 'Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency'">Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 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=C3151753[DISCUI]&test_type=Clinical" ref="ncbi_uid=463103">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=463103" target="_blank" href="/omim/300169">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=463103" ref="ncbi_uid=463103">V</a></span></span><span class="TLline"><a href="/medgen/463103" ref="tree=GTR&ncbi_uid=463103&link_uid=463103" title="View MedGen record for 'Severe X-linked mitochondrial encephalomyopathy'">Severe X-linked mitochondrial encephalomyopathy</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/1626645" ref="tree=MeSH" title="MedGen record for Combined oxidative phosphorylation deficiency">Combined oxidative phosphorylation deficiency</a></span><ul><li><span class="matched_ds">Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome</span></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=22609&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome</span> in Orphanet.</div></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39079226">Natural history of deoxyguanosine kinase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Keshavan N,
|
||
Rahman S</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2024 Sep-Oct;143(1-2):108554.
|
||
Epub 2024 Jul 24
|
||
doi: 10.1016/j.ymgme.2024.108554.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39079226" target="_blank">39079226</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37721116">Molecular insight into CREBBP and TANGO2 variants causing intellectual disability.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hussain SI,
|
||
Muhammad N,
|
||
Khan N,
|
||
Khan M,
|
||
Fardous F,
|
||
Tahir R,
|
||
Yasin M,
|
||
Khan SA,
|
||
Saleha S,
|
||
Muhammad N,
|
||
Wasif N,
|
||
Khan S</span><br />
|
||
<span class="medgenPMjournal">J Gene Med</span>
|
||
2024 Jan;26(1):e3591.
|
||
Epub 2023 Sep 18
|
||
doi: 10.1002/jgm.3591.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37721116" target="_blank">37721116</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37661676">Pattern of hereditary renal tubular disorders in Egyptian children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">M-Osman MA,
|
||
B-Abd-Elrehim GA,
|
||
Abdelkreem E,
|
||
Abosdera MM,
|
||
Kassem MA</span><br />
|
||
<span class="medgenPMjournal">Turk J Pediatr</span>
|
||
2023;65(4):611-619.
|
||
doi: 10.24953/turkjped.2022.688.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37661676" target="_blank">37661676</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34662929">Expanding the phenotypic spectrum of BCS1L-related mitochondrial disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hikmat O,
|
||
Isohanni P,
|
||
Keshavan N,
|
||
Ferla MP,
|
||
Fassone E,
|
||
Abbott MA,
|
||
Bellusci M,
|
||
Darin N,
|
||
Dimmock D,
|
||
Ghezzi D,
|
||
Houlden H,
|
||
Invernizzi F,
|
||
Kamarus Jaman NB,
|
||
Kurian MA,
|
||
Morava E,
|
||
Naess K,
|
||
Ortigoza-Escobar JD,
|
||
Parikh S,
|
||
Pennisi A,
|
||
Barcia G,
|
||
Tylleskär KB,
|
||
Brackman D,
|
||
Wortmann SB,
|
||
Taylor JC,
|
||
Bindoff LA,
|
||
Fellman V,
|
||
Rahman S</span><br />
|
||
<span class="medgenPMjournal">Ann Clin Transl Neurol</span>
|
||
2021 Nov;8(11):2155-2165.
|
||
Epub 2021 Oct 18
|
||
doi: 10.1002/acn3.51470.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34662929" target="_blank">34662929</a><a href="/pmc/articles/PMC8607453" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12430621">Bone marrow failure syndromes in children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alter BP</span><br />
|
||
<span class="medgenPMjournal">Pediatr Clin North Am</span>
|
||
2002 Oct;49(5):973-88.
|
||
doi: 10.1016/s0031-3955(02)00031-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12430621" target="_blank">12430621</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Growth%20and%20developmental%20delay-hypotonia-vision%20impairment-lactic%20acidosis%20syndrome%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 (10)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37721116">Molecular insight into CREBBP and TANGO2 variants causing intellectual disability.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hussain SI,
|
||
Muhammad N,
|
||
Khan N,
|
||
Khan M,
|
||
Fardous F,
|
||
Tahir R,
|
||
Yasin M,
|
||
Khan SA,
|
||
Saleha S,
|
||
Muhammad N,
|
||
Wasif N,
|
||
Khan S</span><br />
|
||
<span class="medgenPMjournal">J Gene Med</span>
|
||
2024 Jan;26(1):e3591.
|
||
Epub 2023 Sep 18
|
||
doi: 10.1002/jgm.3591.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37721116" target="_blank">37721116</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37661676">Pattern of hereditary renal tubular disorders in Egyptian children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">M-Osman MA,
|
||
B-Abd-Elrehim GA,
|
||
Abdelkreem E,
|
||
Abosdera MM,
|
||
Kassem MA</span><br />
|
||
<span class="medgenPMjournal">Turk J Pediatr</span>
|
||
2023;65(4):611-619.
|
||
doi: 10.24953/turkjped.2022.688.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37661676" target="_blank">37661676</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36709914">Carbonic anhydrase II deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Whyte MP</span><br />
|
||
<span class="medgenPMjournal">Bone</span>
|
||
2023 Apr;169:116684.
|
||
Epub 2023 Jan 27
|
||
doi: 10.1016/j.bone.2023.116684.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36709914" target="_blank">36709914</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35960161">Identification of two novel variants of BCS1L gene in a patient with classical GRACILE syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guo W,
|
||
Shao Y,
|
||
Lang Y,
|
||
Wang H,
|
||
Lin Y,
|
||
Liu X,
|
||
Zhang R,
|
||
Shao L</span><br />
|
||
<span class="medgenPMjournal">Nephrology (Carlton)</span>
|
||
2022 Oct;27(10):810-814.
|
||
Epub 2022 Aug 22
|
||
doi: 10.1111/nep.14086.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35960161" target="_blank">35960161</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30501482">Hypotonia and delayed motor development as an early presentation of Lowe syndrome: case report and literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">David S,
|
||
De Waele K,
|
||
De Wilde B,
|
||
Faes F,
|
||
Vanakker O,
|
||
Walraedt S,
|
||
Prytuła A</span><br />
|
||
<span class="medgenPMjournal">Acta Clin Belg</span>
|
||
2019 Dec;74(6):460-464.
|
||
Epub 2018 Dec 3
|
||
doi: 10.1080/17843286.2018.1551743.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30501482" target="_blank">30501482</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Growth%20and%20developmental%20delay-hypotonia-vision%20impairment-lactic%20acidosis%20syndrome%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 (11)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/28557682">An infant presenting with failure to thrive and hyperkalaemia owing to transient pseudohypoaldosteronism: case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">De Clerck M,
|
||
Vande Walle J,
|
||
Dhont E,
|
||
Dehoorne J,
|
||
Keenswijk W</span><br />
|
||
<span class="medgenPMjournal">Paediatr Int Child Health</span>
|
||
2018 Nov;38(4):277-280.
|
||
Epub 2017 May 30
|
||
doi: 10.1080/20469047.2017.1329889.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28557682" target="_blank">28557682</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6177239">Infants with bronchopulmonary dysplasia. Growth pattern and neurologic and developmental outcome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vohr BR,
|
||
Bell EF,
|
||
Oh W</span><br />
|
||
<span class="medgenPMjournal">Am J Dis Child</span>
|
||
1982 May;136(5):443-7.
|
||
doi: 10.1001/archpedi.1982.03970410061015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6177239" target="_blank">6177239</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/105338">Failure to thrive associated with renal disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Friedman J,
|
||
Lewy JE</span><br />
|
||
<span class="medgenPMjournal">Pediatr Ann</span>
|
||
1978 Nov;7(11):767-73.
|
||
<span class="bold">PMID: </span><a href="/pubmed/105338" target="_blank">105338</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Growth%20and%20developmental%20delay-hypotonia-vision%20impairment-lactic%20acidosis%20syndrome%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (3)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39079226">Natural history of deoxyguanosine kinase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Keshavan N,
|
||
Rahman S</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2024 Sep-Oct;143(1-2):108554.
|
||
Epub 2024 Jul 24
|
||
doi: 10.1016/j.ymgme.2024.108554.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39079226" target="_blank">39079226</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34662929">Expanding the phenotypic spectrum of BCS1L-related mitochondrial disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hikmat O,
|
||
Isohanni P,
|
||
Keshavan N,
|
||
Ferla MP,
|
||
Fassone E,
|
||
Abbott MA,
|
||
Bellusci M,
|
||
Darin N,
|
||
Dimmock D,
|
||
Ghezzi D,
|
||
Houlden H,
|
||
Invernizzi F,
|
||
Kamarus Jaman NB,
|
||
Kurian MA,
|
||
Morava E,
|
||
Naess K,
|
||
Ortigoza-Escobar JD,
|
||
Parikh S,
|
||
Pennisi A,
|
||
Barcia G,
|
||
Tylleskär KB,
|
||
Brackman D,
|
||
Wortmann SB,
|
||
Taylor JC,
|
||
Bindoff LA,
|
||
Fellman V,
|
||
Rahman S</span><br />
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<span class="medgenPMjournal">Ann Clin Transl Neurol</span>
|
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2021 Nov;8(11):2155-2165.
|
||
Epub 2021 Oct 18
|
||
doi: 10.1002/acn3.51470.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34662929" target="_blank">34662929</a><a href="/pmc/articles/PMC8607453" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29518248">Defective mitochondrial protease LonP1 can cause classical mitochondrial disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Peter B,
|
||
Waddington CL,
|
||
Oláhová M,
|
||
Sommerville EW,
|
||
Hopton S,
|
||
Pyle A,
|
||
Champion M,
|
||
Ohlson M,
|
||
Siibak T,
|
||
Chrzanowska-Lightowlers ZMA,
|
||
Taylor RW,
|
||
Falkenberg M,
|
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Lightowlers RN</span><br />
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<span class="medgenPMjournal">Hum Mol Genet</span>
|
||
2018 May 15;27(10):1743-1753.
|
||
doi: 10.1093/hmg/ddy080.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29518248" target="_blank">29518248</a><a href="/pmc/articles/PMC5932559" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25326274">TMEM70 deficiency: long-term outcome of 48 patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Magner M,
|
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Dvorakova V,
|
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Tesarova M,
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Mazurova S,
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Hansikova H,
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Zahorec M,
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Bzduch V,
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Spiegel R,
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Horovitz Y,
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Mandel H,
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Eminoğlu FT,
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Mayr JA,
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Koch J,
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Martinelli D,
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Bertini E,
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Konstantopoulou V,
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Smet J,
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Rahman S,
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Broomfield A,
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Morava E,
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<span class="medgenPMjournal">J Inherit Metab Dis</span>
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2015 May;38(3):417-26.
|
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Epub 2014 Oct 18
|
||
doi: 10.1007/s10545-014-9774-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25326274" target="_blank">25326274</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6177239">Infants with bronchopulmonary dysplasia. Growth pattern and neurologic and developmental outcome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vohr BR,
|
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Bell EF,
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Oh W</span><br />
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<span class="medgenPMjournal">Am J Dis Child</span>
|
||
1982 May;136(5):443-7.
|
||
doi: 10.1001/archpedi.1982.03970410061015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6177239" target="_blank">6177239</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Growth%20and%20developmental%20delay-hypotonia-vision%20impairment-lactic%20acidosis%20syndrome%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (7)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39079226">Natural history of deoxyguanosine kinase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Keshavan N,
|
||
Rahman S</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2024 Sep-Oct;143(1-2):108554.
|
||
Epub 2024 Jul 24
|
||
doi: 10.1016/j.ymgme.2024.108554.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39079226" target="_blank">39079226</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37721116">Molecular insight into CREBBP and TANGO2 variants causing intellectual disability.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hussain SI,
|
||
Muhammad N,
|
||
Khan N,
|
||
Khan M,
|
||
Fardous F,
|
||
Tahir R,
|
||
Yasin M,
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||
Khan SA,
|
||
Saleha S,
|
||
Muhammad N,
|
||
Wasif N,
|
||
Khan S</span><br />
|
||
<span class="medgenPMjournal">J Gene Med</span>
|
||
2024 Jan;26(1):e3591.
|
||
Epub 2023 Sep 18
|
||
doi: 10.1002/jgm.3591.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37721116" target="_blank">37721116</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30582773">Clinical spectrum of BCS1L Mitopathies and their underlying structural relationships.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Baker RA,
|
||
Priestley JRC,
|
||
Wilstermann AM,
|
||
Reese KJ,
|
||
Mark PR</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2019 Mar;179(3):373-380.
|
||
Epub 2018 Dec 24
|
||
doi: 10.1002/ajmg.a.61019.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30582773" target="_blank">30582773</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29518248">Defective mitochondrial protease LonP1 can cause classical mitochondrial disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Peter B,
|
||
Waddington CL,
|
||
Oláhová M,
|
||
Sommerville EW,
|
||
Hopton S,
|
||
Pyle A,
|
||
Champion M,
|
||
Ohlson M,
|
||
Siibak T,
|
||
Chrzanowska-Lightowlers ZMA,
|
||
Taylor RW,
|
||
Falkenberg M,
|
||
Lightowlers RN</span><br />
|
||
<span class="medgenPMjournal">Hum Mol Genet</span>
|
||
2018 May 15;27(10):1743-1753.
|
||
doi: 10.1093/hmg/ddy080.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29518248" target="_blank">29518248</a><a href="/pmc/articles/PMC5932559" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12430621">Bone marrow failure syndromes in children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alter BP</span><br />
|
||
<span class="medgenPMjournal">Pediatr Clin North Am</span>
|
||
2002 Oct;49(5):973-88.
|
||
doi: 10.1016/s0031-3955(02)00031-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12430621" target="_blank">12430621</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Growth%20and%20developmental%20delay-hypotonia-vision%20impairment-lactic%20acidosis%20syndrome%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (8)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<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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|
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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>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C3810001%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (9)</a></li>
|
||
<li><a href="/gtr/tests?term=C3810001%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (13)</a></li>
|
||
<li><a href="/gtr/tests?term=C3810001%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (3)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C3810001%5bDISCUI%5d" target="_blank">See all (13)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<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=615578" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=391348" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Growth%20and%20developmental%20delay-hypotonia-vision%20impairment-lactic%20acidosis%20syndrome" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Growth%20and%20developmental%20delay-hypotonia-vision%20impairment-lactic%20acidosis%20syndrome%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
|
||
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|
||
|
||
<div class="portlet 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>
|
||
<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=615564" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=119559[geneid]" target="_blank">View SFXN4 variations in ClinVar</a></li><li><a href="https://catalog.coriell.org/Search?q=615578" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<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>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/combined_oxidative_phosphorylation_deficiency_18" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Growth%20and%20developmental%20delay-hypotonia-vision%20impairment-lactic%20acidosis%20syndrome" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/17615/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</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 class="portlet_content">
|
||
<ul>
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||
<li>
|
||
<a href="/pubmed/clinical?term=Growth%20and%20developmental%20delay-hypotonia-vision%20impairment-lactic%20acidosis%20syndrome" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
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</li>
|
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<li>
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<a href="/pubmed?term=Growth%20and%20developmental%20delay-hypotonia-vision%20impairment-lactic%20acidosis%20syndrome%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
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|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
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<div class="portlet_title">
|
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<h3>Related information</h3>
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||
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||
<li class="brieflinkpopper">
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||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=816331" ref="log$=recordlinks">ClinVar</a>
|
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<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
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</li>
|
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<li class="brieflinkpopper">
|
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<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=816331" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C3810001[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C3810001[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=816331" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=816331" ref="log$=recordlinks">OMIM(Genes)</a>
|
||
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=816331" ref="log$=recordlinks">PMC Articles</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=816331" ref="log$=recordlinks">PubMed</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
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|
||
|
||
|
||
<div class="portlet">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Recent activity</h3>
|
||
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|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="recent_activity" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter"></a>
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|
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<div id="HTDisplay" class="">
|
||
<input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Cmd" sid="1" type="hidden" />
|
||
<div class="action">
|
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" cmd="ClearHT" href="?cmd=ClearHT&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory">
|
||
Clear
|
||
</a>
|
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOn" cmd="HTOff" href="?cmd=HTOff&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
|
||
Turn Off
|
||
</a>
|
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="2" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOff" cmd="HTOn" href="?cmd=HTOn&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
|
||
Turn On
|
||
</a>
|
||
</div>
|
||
<ul id="activity">
|
||
<li class="ra_rcd ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cca6feb15b832ebc499df6">Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndr...</a>
|
||
<div class="ralinkpop offscreen_noflow">Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome<div class="brieflinkpopdesc"></div></div>
|
||
<div class="tertiary">MedGen</div>
|
||
</li>
|
||
<li class="ra_qry two_line">
|
||
<a class="htb" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67cca6fd84f3725e5985b60f">C3810001[conceptid] <span class="number">(1)</span></a>
|
||
<div class="tertiary">MedGen</div>
|
||
</li>
|
||
<li class="ra_qry two_line">
|
||
<a class="htb" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67cca6fc84f3725e5985b231">C1868679[trait identifier] AND "Baylor Genetics"[submitter] <span class="number">(1)</span></a>
|
||
<div class="tertiary">ClinVar</div>
|
||
</li>
|
||
<li class="ra_qry two_line">
|
||
<a class="htb" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67cca6fbf4a390645e8d6359">C1859194[trait identifier] AND "Baylor Genetics"[submitter] <span class="number">(2)</span></a>
|
||
<div class="tertiary">ClinVar</div>
|
||
</li>
|
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