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<meta name="keywords" content="C2700405, disease or syndrome, hypogonadotropic hypogonadism with anosmia and deafness with or without hypopigmentation, hypogonadotropic hypogonadism with anosmia and deafness, with or without hypopigmentation, sox10, sox10 waardenburg syndrome type 2, waardenburg syndrome type 2 caused by mutation in sox10, waardenburg syndrome type 2e, waardenburg syndrome type 2e with or without neurologic involvement, waardenburg syndrome type iie, waardenburg syndrome, type 2e, waardenburg syndrome, type 2e, with or without neurologic involvement, waardenburg syndrome, type iie, ws2e, ws2e with or without neurological involvement, ws2e, with or without neurologic involvement, 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="Waardenburg syndrome type 2 (WS2) is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; and the absence of 'dystopia canthorum,' the lateral displacement of the inner canthus of each eye, which is seen in some other forms of WS (review by Read and Newton, 1997). Individuals with WS type 2E (WS2E) may have neurologic abnormalities, including mental impairment, myelination defects, and ataxia. Waardenburg syndrome type 2 is genetically heterogeneous (see WS2A, 193510). For a description of other clinical variants of Waardenburg syndrome, see WS1 (193500), WS3 (148820), and WS4 (277580)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=398476
|
||
ConceptID=C2700405
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Waardenburg syndrome type 2E<span class="h1sub">(WS2E)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>398476</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.">C2700405</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>HYPOGONADOTROPIC HYPOGONADISM WITH ANOSMIA AND DEAFNESS, WITH OR WITHOUT HYPOPIGMENTATION; Waardenburg Syndrome Type IIE; WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT; WS2E; WS2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT</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="SOX10 - ID: 6663 - NCBI Gene" href="/gene/6663" class="medgenPMinfo">SOX10</a> (22q13.1)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0012698" target="_blank">MONDO:0012698</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/611584" target="_blank">611584</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">Waardenburg syndrome type 2 (WS2) is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; and the absence of 'dystopia canthorum,' the lateral displacement of the inner canthus of each eye, which is seen in some other forms of WS (review by Read and Newton, 1997). Individuals with WS type 2E (WS2E) may have neurologic abnormalities, including mental impairment, myelination defects, and ataxia. Waardenburg syndrome type 2 is genetically heterogeneous (see WS2A, 193510). For a description of other clinical variants of Waardenburg syndrome, see WS1 (193500), WS3 (148820), and WS4 (277580). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
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</div>
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||
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<div class="portlet mgSection" id="ID_117">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Waardenburg syndrome is a group of genetic conditions that can cause hearing loss and changes in coloring (pigmentation) of the hair, skin, and eyes. Although most people with Waardenburg syndrome have normal hearing, moderate to profound hearing loss can occur in one or both ears. The hearing loss is present from birth (congenital). People with this condition often have very pale blue eyes or different colored eyes, such as one blue eye and one brown eye. Sometimes one eye has segments of two different colors. Distinctive hair coloring (such as a patch of white hair or hair that prematurely turns gray) is another common sign of the condition. The features of Waardenburg syndrome vary among affected individuals, even among people in the same family.<br /><br />There are four recognized types of Waardenburg syndrome, which are distinguished by their physical characteristics and sometimes by their genetic cause. Types I and II have very similar features, although people with type I almost always have eyes that appear widely spaced and people with type II do not. In addition, hearing loss occurs more often in people with type II than in those with type I. Type III (sometimes called Klein-Waardenburg syndrome) includes abnormalities of the arms and hands in addition to hearing loss and changes in pigmentation. Type IV (also known as Waardenburg-Hirschsprung disease or Waardenburg-Shah syndrome) has signs and symptoms of both Waardenburg syndrome and Hirschsprung disease, an intestinal disorder that causes severe constipation or blockage of the intestine. <a target="_blank" href="https://medlineplus.gov/genetics/condition/waardenburg-syndrome">https://medlineplus.gov/genetics/condition/waardenburg-syndrome</a></div></div>
|
||
</div>
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||
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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_8076"><div><strong>Vascular dilatation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8076</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.">C0002940</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormal outpouching or sac-like dilatation in the wall of an atery, vein or the heart.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/8076">Feature record</a> | <a href="/medgen?term=%22Vascular%20dilatation%22%5BClinical%20Features%5D%20OR%208076%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_9164"><div><strong>Sensorineural hearing loss disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9164</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0018784</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9164">Feature record</a> | <a href="/medgen?term=%22Sensorineural%20hearing%20loss%20disorder%22%5BClinical%20Features%5D%20OR%209164%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_852662"><div><strong>Abnormal morphology of the vestibule of the inner ear</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>852662</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.">C0542259</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A morphological abnormality of the vestibule, the central part of the osseous labyrinth that is situated medial to the tympanic cavity, behind the cochlea, and in front of the semicircular canals.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/852662">Feature record</a> | <a href="/medgen?term=%22Abnormal%20morphology%20of%20the%20vestibule%20of%20the%20inner%20ear%22%5BClinical%20Features%5D%20OR%20852662%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_765070"><div><strong>Hypoplasia of the semicircular canal</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>765070</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.">C3552156</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Underdevelopment of the semicircular canal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/765070">Feature record</a> | <a href="/medgen?term=%22Hypoplasia%20of%20the%20semicircular%20canal%22%5BClinical%20Features%5D%20OR%20765070%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_868971"><div><strong>Aplasia of the semicircular canal</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>868971</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.">C4023385</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Absence of the semicircular canal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/868971">Feature record</a> | <a href="/medgen?term=%22Aplasia%20of%20the%20semicircular%20canal%22%5BClinical%20Features%5D%20OR%20868971%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_868973"><div><strong>Dilated vestibule of the inner ear</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>868973</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.">C4023387</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Dilatation of the vestibule of the inner ear.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/868973">Feature record</a> | <a href="/medgen?term=%22Dilated%20vestibule%20of%20the%20inner%20ear%22%5BClinical%20Features%5D%20OR%20868973%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1950"><div><strong>Anosmia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1950</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.">C0003126</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1950">Feature record</a> | <a href="/medgen?term=%22Anosmia%22%5BClinical%20Features%5D%20OR%201950%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_107838"><div><strong>Global developmental delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107838</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0557874</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/107838">Feature record</a> | <a href="/medgen?term=%22Global%20developmental%20delay%22%5BClinical%20Features%5D%20OR%20107838%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_383084"><div><strong>Cerebral hypomyelination</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>383084</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.">C2677328</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the white matter of the central nervous system.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/383084">Feature record</a> | <a href="/medgen?term=%22Cerebral%20hypomyelination%22%5BClinical%20Features%5D%20OR%20383084%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_811461"><div><strong>Intellectual disability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811461</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.">C3714756</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/811461">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%22%5BClinical%20Features%5D%20OR%20811461%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10132"><div><strong>Hypertonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10132</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0026826</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10132">Feature record</a> | <a href="/medgen?term=%22Hypertonia%22%5BClinical%20Features%5D%20OR%2010132%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_342959"><div><strong>Axial hypotonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>342959</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.">C1853743</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/342959">Feature record</a> | <a href="/medgen?term=%22Axial%20hypotonia%22%5BClinical%20Features%5D%20OR%20342959%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_781174"><div><strong>Pectus excavatum</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>781174</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.">C2051831</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/781174">Feature record</a> | <a href="/medgen?term=%22Pectus%20excavatum%22%5BClinical%20Features%5D%20OR%20781174%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_113157"><div><strong>Cafe-au-lait spot</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>113157</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.">C0221263</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cafe-au-lait spots are hyperpigmented lesions that can vary in color from light brown to dark brown with smooth borders and having a size of 1.5 cm or more in adults and 0.5 cm or more in children.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/113157">Feature record</a> | <a href="/medgen?term=%22Cafe-au-lait%20spot%22%5BClinical%20Features%5D%20OR%20113157%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_75524"><div><strong>Premature graying of hair</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75524</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.">C0263498</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Development of gray hair at a younger than normal age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75524">Feature record</a> | <a href="/medgen?term=%22Premature%20graying%20of%20hair%22%5BClinical%20Features%5D%20OR%2075524%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_91023"><div><strong>White forelock</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>91023</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.">C0344312</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A triangular depigmented region of white hairs located in the anterior midline of the scalp.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/91023">Feature record</a> | <a href="/medgen?term=%22White%20forelock%22%5BClinical%20Features%5D%20OR%2091023%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_373164"><div><strong>Hypopigmented skin patches</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>373164</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.">C1836735</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/373164">Feature record</a> | <a href="/medgen?term=%22Hypopigmented%20skin%20patches%22%5BClinical%20Features%5D%20OR%20373164%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_332275"><div><strong>White eyelashes</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332275</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.">C1836736</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">White color (lack of pigmentation) of the eyelashes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/332275">Feature record</a> | <a href="/medgen?term=%22White%20eyelashes%22%5BClinical%20Features%5D%20OR%20332275%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_373165"><div><strong>White eyebrow</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>373165</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.">C1836737</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">White color (lack of pigmentation) of the eyebrow.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/373165">Feature record</a> | <a href="/medgen?term=%22White%20eyebrow%22%5BClinical%20Features%5D%20OR%20373165%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_45166"><div><strong>Nystagmus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>45166</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0028738</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/45166">Feature record</a> | <a href="/medgen?term=%22Nystagmus%22%5BClinical%20Features%5D%20OR%2045166%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_38147"><div><strong>Ocular albinism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>38147</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.">C0078917</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal reduction in the amount of pigmentation (reduced or absent) of the iris and retina.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/38147">Feature record</a> | <a href="/medgen?term=%22Ocular%20albinism%22%5BClinical%20Features%5D%20OR%2038147%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_101805"><div><strong>Hypopigmentation of the fundus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>101805</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.">C0151891</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduced pigmentation of the fundus, typically generalized. Fundoscopy may reveal a low level pigment in both RPE and choroid with clear visibility of choroidal vessels (pale/albinoid) or low pigment level in the RPE with deep pigment in choroid so that visible choroidal vessels are separated by deeply pigmented zones (tesselated/tigroid).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/101805">Feature record</a> | <a href="/medgen?term=%22Hypopigmentation%20of%20the%20fundus%22%5BClinical%20Features%5D%20OR%20101805%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_509721"><div><strong>Iris hypopigmentation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>509721</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.">C0154920</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal reduction in the amount of pigmentation of the iris.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/509721">Feature record</a> | <a href="/medgen?term=%22Iris%20hypopigmentation%22%5BClinical%20Features%5D%20OR%20509721%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_91029"><div><strong>Hypoplasia of the iris</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>91029</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.">C0344539</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital underdevelopment of the iris.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/91029">Feature record</a> | <a href="/medgen?term=%22Hypoplasia%20of%20the%20iris%22%5BClinical%20Features%5D%20OR%2091029%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_98395"><div><strong>Heterochromia iridis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98395</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.">C0423318</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Heterochromia iridis is a difference in the color of the iris in the two eyes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98395">Feature record</a> | <a href="/medgen?term=%22Heterochromia%20iridis%22%5BClinical%20Features%5D%20OR%2098395%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_108297"><div><strong>Blue irides</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>108297</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.">C0578626</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A markedly blue coloration of the iris.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/108297">Feature record</a> | <a href="/medgen?term=%22Blue%20irides%22%5BClinical%20Features%5D%20OR%20108297%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">Abnormality of the cardiovascular system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8076" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vascular dilatation</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_108297" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Blue irides</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98395" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Heterochromia iridis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_101805" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypopigmentation of the fundus</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_91029" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypoplasia of the iris</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_509721" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Iris hypopigmentation</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_45166" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nystagmus</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_38147" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ocular albinism</a></span></li></ul></li><li><span class="TLline">Abnormality of the integument</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_113157" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cafe-au-lait spot</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_373164" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypopigmented skin patches</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_75524" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Premature graying of hair</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_373165" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">White eyebrow</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_332275" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">White eyelashes</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_91023" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">White forelock</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_342959" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Axial hypotonia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10132" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertonia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_781174" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pectus excavatum</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_1950" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Anosmia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_383084" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebral hypomyelination</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_107838" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Global developmental delay</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_811461" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability</a></span></li></ul></li><li><span class="TLline">Ear malformation</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_852662" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal morphology of the vestibule of the inner ear</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_868971" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Aplasia of the semicircular canal</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_868973" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dilated vestibule of the inner ear</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_765070" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypoplasia of the semicircular canal</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9164" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sensorineural hearing loss disorder</a></span></li></ul></li></ul></div></div>
|
||
</div>
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||
|
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0236038[DISCUI]&test_type=Clinical" ref="ncbi_uid=65923">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=65923">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=65923" ref="ncbi_uid=65923">V</a></span></span><span class="TLline"><a href="/medgen/65923" ref="tree=GTR&ncbi_uid=65923&link_uid=65923" title="View MedGen record for 'Hereditary hearing loss and deafness'">Hereditary hearing loss and deafness</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1567741[DISCUI]&test_type=Clinical" ref="ncbi_uid=339209">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=339209" ref="ncbi_uid=339209">V</a></span></span><span class="TLline"><a href="/medgen/339209" ref="tree=GTR&ncbi_uid=339209&link_uid=339209" title="View MedGen record for 'Alport syndrome'">Alport syndrome</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5882663[DISCUI]&test_type=Clinical" ref="ncbi_uid=1848787">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1848787" target="_blank" href="/omim/104200">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1207/" ref="ncbi_uid=1848787">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1848787" ref="ncbi_uid=1848787">V</a></span></span><span class="TLline"><a href="/medgen/1848787" ref="tree=GTR&ncbi_uid=1848787&link_uid=1848787" title="View MedGen record for 'Autosomal dominant Alport syndrome'">Autosomal dominant Alport syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4746745[DISCUI]&test_type=Clinical" ref="ncbi_uid=1648334">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1648334" target="_blank" href="/omim/120131">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1207/" ref="ncbi_uid=1648334">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1648334" ref="ncbi_uid=1648334">V</a></span></span><span class="TLline"><a href="/medgen/1648334" ref="tree=GTR&ncbi_uid=1648334&link_uid=1648334" title="View MedGen record for 'Autosomal recessive Alport syndrome'">Autosomal recessive Alport syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4746986[DISCUI]&test_type=Clinical" ref="ncbi_uid=1648433">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1648433" target="_blank" href="/omim/301050">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1207/" ref="ncbi_uid=1648433">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1648433" ref="ncbi_uid=1648433">V</a></span></span><span class="TLline"><a href="/medgen/1648433" ref="tree=GTR&ncbi_uid=1648433&link_uid=1648433" title="View MedGen record for 'X-linked Alport syndrome'">X-linked Alport syndrome</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0220754[DISCUI]&test_type=Clinical" ref="ncbi_uid=66323">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=66323" target="_blank" href="/omim/253260">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1322/" ref="ncbi_uid=66323">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=66323" ref="ncbi_uid=66323">V</a></span></span><span class="TLline"><a href="/medgen/66323" ref="tree=GTR&ncbi_uid=66323&link_uid=66323" title="View MedGen record for 'Biotinidase deficiency'">Biotinidase deficiency</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=CN043574[DISCUI]&test_type=Clinical" ref="ncbi_uid=432724">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1380/" ref="ncbi_uid=432724">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=432724" ref="ncbi_uid=432724">V</a></span></span><span class="TLline"><a href="/medgen/432724" ref="tree=GTR&ncbi_uid=432724&link_uid=432724" title="View MedGen record for 'Branchiootorenal Spectrum Disorders'">Branchiootorenal Spectrum Disorders</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1842124[DISCUI]&test_type=Clinical" ref="ncbi_uid=333995">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=333995" target="_blank" href="/omim/601205">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1380/" ref="ncbi_uid=333995">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=333995" ref="ncbi_uid=333995">V</a></span></span><span class="TLline"><a href="/medgen/333995" ref="tree=GTR&ncbi_uid=333995&link_uid=333995" title="View MedGen record for 'Branchiootic syndrome 3'">Branchiootic syndrome 3</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4551702[DISCUI]&test_type=Clinical" ref="ncbi_uid=1632634">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1632634" target="_blank" href="/omim/113650">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1380/" ref="ncbi_uid=1632634">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1632634" ref="ncbi_uid=1632634">V</a></span></span><span class="TLline"><a href="/medgen/1632634" ref="tree=GTR&ncbi_uid=1632634&link_uid=1632634" title="View MedGen record for 'Branchiootorenal syndrome 1'">Branchiootorenal syndrome 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1970479[DISCUI]&test_type=Clinical" ref="ncbi_uid=410081">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=410081" target="_blank" href="/omim/600963">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1380/" ref="ncbi_uid=410081">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=410081" ref="ncbi_uid=410081">V</a></span></span><span class="TLline"><a href="/medgen/410081" ref="tree=GTR&ncbi_uid=410081&link_uid=410081" title="View MedGen record for 'Branchiootorenal syndrome 2'">Branchiootorenal syndrome 2</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0796074[DISCUI]&test_type=Clinical" ref="ncbi_uid=162903">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=162903" target="_blank" href="/omim/300356">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1216/" ref="ncbi_uid=162903">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=162903" ref="ncbi_uid=162903">V</a></span></span><span class="TLline"><a href="/medgen/162903" ref="tree=GTR&ncbi_uid=162903&link_uid=162903" title="View MedGen record for 'Deafness dystonia syndrome'">Deafness dystonia syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4551509[DISCUI]&test_type=Clinical" ref="ncbi_uid=1646925">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1646925" target="_blank" href="/omim/220400">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1405/" ref="ncbi_uid=1646925">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1646925" ref="ncbi_uid=1646925">V</a></span></span><span class="TLline"><a href="/medgen/1646925" ref="tree=GTR&ncbi_uid=1646925&link_uid=1646925" title="View MedGen record for 'Jervell and Lange-Nielsen syndrome 1'">Jervell and Lange-Nielsen syndrome 1</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2676723[DISCUI]&test_type=Clinical" ref="ncbi_uid=394108">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=394108" target="_blank" href="/omim/176261">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1405/" ref="ncbi_uid=394108">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=394108" ref="ncbi_uid=394108">V</a></span></span><span class="TLline"><a href="/medgen/394108" ref="tree=GTR&ncbi_uid=394108&link_uid=394108" title="View MedGen record for 'Jervell and Lange-Nielsen syndrome 2'">Jervell and Lange-Nielsen syndrome 2</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4551647[DISCUI]&test_type=Clinical" ref="ncbi_uid=1641146">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1641146" target="_blank" href="/omim/192500">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1129/" ref="ncbi_uid=1641146">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1641146" ref="ncbi_uid=1641146">V</a></span></span><span class="TLline"><a href="/medgen/1641146" ref="tree=GTR&ncbi_uid=1641146&link_uid=1641146" title="View MedGen record for 'Long QT syndrome 1'">Long QT syndrome 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1867904[DISCUI]&test_type=Clinical" ref="ncbi_uid=358092">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=358092" target="_blank" href="/omim/176261">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1129/" ref="ncbi_uid=358092">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=358092" ref="ncbi_uid=358092">V</a></span></span><span class="TLline"><a href="/medgen/358092" ref="tree=GTR&ncbi_uid=358092&link_uid=358092" title="View MedGen record for 'Long QT syndrome 5'">Long QT syndrome 5</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0751651[DISCUI]&test_type=Clinical" ref="ncbi_uid=155901">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1224/" ref="ncbi_uid=155901">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=155901" ref="ncbi_uid=155901">V</a></span></span><span class="TLline"><a href="/medgen/155901" ref="tree=GTR&ncbi_uid=155901&link_uid=155901" title="View MedGen record for 'Mitochondrial disease'">Mitochondrial disease</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0342779[DISCUI]&test_type=Clinical" ref="ncbi_uid=452448">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/452448" ref="tree=GTR&ncbi_uid=452448&link_uid=452448" title="View MedGen record for 'Complex V deficiency'">Complex V deficiency</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3279699[DISCUI]&test_type=Clinical" ref="ncbi_uid=481329">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=481329" target="_blank" href="/omim/612418">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=481329" ref="ncbi_uid=481329">V</a></span></span><span class="TLline"><a href="/medgen/481329" ref="tree=GTR&ncbi_uid=481329&link_uid=481329" title="View MedGen record for 'Mitochondrial complex V (ATP synthase) deficiency nuclear type 2'">Mitochondrial complex V (ATP synthase) deficiency nuclear type 2</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3279708[DISCUI]&test_type=Clinical" ref="ncbi_uid=481338">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=481338" target="_blank" href="/omim/606153">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=481338" ref="ncbi_uid=481338">V</a></span></span><span class="TLline"><a href="/medgen/481338" ref="tree=GTR&ncbi_uid=481338&link_uid=481338" title="View MedGen record for 'Mitochondrial complex V (ATP synthase) deficiency nuclear type 3'">Mitochondrial complex V (ATP synthase) deficiency nuclear type 3</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3276276[DISCUI]&test_type=Clinical" ref="ncbi_uid=477906">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=477906" target="_blank" href="/omim/604273">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=477906" ref="ncbi_uid=477906">V</a></span></span><span class="TLline"><a href="/medgen/477906" ref="tree=GTR&ncbi_uid=477906&link_uid=477906" title="View MedGen record for 'Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1'">Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2931891[DISCUI]&test_type=Clinical" ref="ncbi_uid=419518">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=419518" target="_blank" href="/omim/256000">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1173%20OR%20NBK1203%20OR%20NBK1224%20OR%20NBK320989)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=419518">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=419518" ref="ncbi_uid=419518">V</a></span></span><span class="TLline"><a href="/medgen/419518" ref="tree=GTR&ncbi_uid=419518&link_uid=419518" title="View MedGen record for 'Leigh syndrome'">Leigh syndrome</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1857355[DISCUI]&test_type=Clinical" ref="ncbi_uid=387801">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=387801" target="_blank" href="/omim/220111">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=387801" ref="ncbi_uid=387801">V</a></span></span><span class="TLline"><a href="/medgen/387801" ref="tree=GTR&ncbi_uid=387801&link_uid=387801" title="View MedGen record for 'Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type'">Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3280112[DISCUI]&test_type=Clinical" ref="ncbi_uid=481742">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=481742" target="_blank" href="/omim/603967">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1168/" ref="ncbi_uid=481742">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=481742" ref="ncbi_uid=481742">V</a></span></span><span class="TLline"><a href="/medgen/481742" ref="tree=GTR&ncbi_uid=481742&link_uid=481742" title="View MedGen record for 'Congenital myasthenic syndrome 16'">Congenital myasthenic syndrome 16</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=CN043625[DISCUI]&test_type=Clinical" ref="ncbi_uid=432733">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK320989/" ref="ncbi_uid=432733">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/432733" ref="tree=GTR&ncbi_uid=432733&link_uid=432733" title="View MedGen record for 'Leigh Syndrome (nuclear DNA mutation)'">Leigh Syndrome (nuclear DNA mutation)</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1838951[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=333220">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=333220" target="_blank" href="/omim/516001">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=333220" ref="ncbi_uid=333220">V</a></span></span><span class="TLline"><a href="/medgen/333220" ref="tree=GTR&ncbi_uid=333220&link_uid=333220" title="View MedGen record for 'Leigh syndrome due to mitochondrial complex I deficiency'">Leigh syndrome due to mitochondrial complex I deficiency</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/342542" ref="tree=GTR&ncbi_uid=342542&link_uid=342542" title="View MedGen record for 'Leigh syndrome due to mitochondrial complex II deficiency'">Leigh syndrome due to mitochondrial complex II deficiency</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1850598[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=376834">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/376834" ref="tree=GTR&ncbi_uid=376834&link_uid=376834" title="View MedGen record for 'Leigh syndrome due to mitochondrial complex III deficiency'">Leigh syndrome due to mitochondrial complex III deficiency</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/376835" ref="tree=GTR&ncbi_uid=376835&link_uid=376835" title="View MedGen record for 'Leigh syndrome due to mitochondrial complex V deficiency'">Leigh syndrome due to mitochondrial complex V deficiency</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=443976" target="_blank" href="/omim/500017">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/443976" ref="tree=GTR&ncbi_uid=443976&link_uid=443976" title="View MedGen record for 'Maternally-inherited Leigh syndrome'">Maternally-inherited Leigh syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=331718" target="_blank" href="/omim/161700">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1173/" ref="ncbi_uid=331718">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/331718" ref="tree=GTR&ncbi_uid=331718&link_uid=331718" title="View MedGen record for 'Necrotizing encephalomyelopathy, subacute, of Leigh, adult'">Necrotizing encephalomyelopathy, subacute, of Leigh, adult</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0034341[DISCUI]&test_type=Clinical" ref="ncbi_uid=18801">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=18801" target="_blank" href="/omim/266150">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK6852/" ref="ncbi_uid=18801">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=18801" ref="ncbi_uid=18801">V</a></span></span><span class="TLline"><a href="/medgen/18801" ref="tree=GTR&ncbi_uid=18801&link_uid=18801" title="View MedGen record for 'Pyruvate carboxylase deficiency'">Pyruvate carboxylase deficiency</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0034345[DISCUI]&test_type=Clinical" ref="ncbi_uid=19610">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=19610" target="_blank" href="/omim/312170">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK571223/" ref="ncbi_uid=19610">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=19610" ref="ncbi_uid=19610">V</a></span></span><span class="TLline"><a href="/medgen/19610" ref="tree=GTR&ncbi_uid=19610&link_uid=19610" title="View MedGen record for 'Pyruvate dehydrogenase complex deficiency'">Pyruvate dehydrogenase complex deficiency</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1838979[DISCUI]&test_type=Clinical" ref="ncbi_uid=374101">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=374101" target="_blank" href="/omim/252010">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=374101" ref="ncbi_uid=374101">V</a></span></span><span class="TLline"><a href="/medgen/374101" ref="tree=GTR&ncbi_uid=374101&link_uid=374101" title="View MedGen record for 'Mitochondrial complex I deficiency'">Mitochondrial complex I deficiency</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1648371" target="_blank" href="/omim/500014">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1648371" ref="ncbi_uid=1648371">V</a></span></span><span class="TLline"><a href="/medgen/1648371" ref="tree=GTR&ncbi_uid=1648371&link_uid=1648371" title="View MedGen record for 'Mitochondrial complex 1 deficiency, mitochondrial type 1'">Mitochondrial complex 1 deficiency, mitochondrial type 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=CN257533[DISCUI]&test_type=Clinical" ref="ncbi_uid=940569">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=940569" ref="ncbi_uid=940569">V</a></span></span><span class="TLline"><a href="/medgen/940569" ref="tree=GTR&ncbi_uid=940569&link_uid=940569" title="View MedGen record for 'Mitochondrial complex I deficiency, nuclear type 1'">Mitochondrial complex I deficiency, nuclear type 1</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5700310[DISCUI]&test_type=Clinical" ref="ncbi_uid=1814582">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1814582" target="_blank" href="/omim/252011">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1814582" ref="ncbi_uid=1814582">V</a></span></span><span class="TLline"><a href="/medgen/1814582" ref="tree=GTR&ncbi_uid=1814582&link_uid=1814582" title="View MedGen record for 'Mitochondrial complex II deficiency, nuclear type 1'">Mitochondrial complex II deficiency, nuclear type 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3541471[DISCUI]&test_type=Clinical" ref="ncbi_uid=762097">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=762097" target="_blank" href="/omim/124000">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=762097" ref="ncbi_uid=762097">V</a></span></span><span class="TLline"><a href="/medgen/762097" ref="tree=GTR&ncbi_uid=762097&link_uid=762097" title="View MedGen record for 'Mitochondrial complex III deficiency nuclear type 1'">Mitochondrial complex III deficiency nuclear type 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5435656[DISCUI]&test_type=Clinical" ref="ncbi_uid=1750917">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1750917" target="_blank" href="/omim/185620">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK320989/" ref="ncbi_uid=1750917">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1750917" ref="ncbi_uid=1750917">V</a></span></span><span class="TLline"><a href="/medgen/1750917" ref="tree=GTR&ncbi_uid=1750917&link_uid=1750917" title="View MedGen record for 'Mitochondrial complex IV deficiency, nuclear type 1'">Mitochondrial complex IV deficiency, nuclear type 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=CN043632[DISCUI]&test_type=Clinical" ref="ncbi_uid=433158">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1203/" ref="ncbi_uid=433158">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/433158" ref="tree=GTR&ncbi_uid=433158&link_uid=433158" title="View MedGen record for 'Mitochondrial DNA Deletion Syndromes'">Mitochondrial DNA Deletion Syndromes</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0022541[DISCUI]&test_type=Clinical" ref="ncbi_uid=9618">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=9618" target="_blank" href="/omim/530000">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1203%20OR%20NBK1224)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=9618">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=9618" ref="ncbi_uid=9618">V</a></span></span><span class="TLline"><a href="/medgen/9618" ref="tree=GTR&ncbi_uid=9618&link_uid=9618" title="View MedGen record for 'Kearns-Sayre syndrome'">Kearns-Sayre syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3554462[DISCUI]&test_type=Clinical" ref="ncbi_uid=767376">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=767376" target="_blank" href="/omim/615076">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK487393/" ref="ncbi_uid=767376">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=767376" ref="ncbi_uid=767376">V</a></span></span><span class="TLline"><a href="/medgen/767376" ref="tree=GTR&ncbi_uid=767376&link_uid=767376" title="View MedGen record for 'Mitochondrial DNA depletion syndrome 11'">Mitochondrial DNA depletion syndrome 11</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4310690[DISCUI]&test_type=Clinical" ref="ncbi_uid=934657">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=934657" target="_blank" href="/omim/600438">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK487393/" ref="ncbi_uid=934657">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=934657" ref="ncbi_uid=934657">V</a></span></span><span class="TLline"><a href="/medgen/934657" ref="tree=GTR&ncbi_uid=934657&link_uid=934657" title="View MedGen record for 'Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)'">Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4707428[DISCUI]&test_type=Clinical" ref="ncbi_uid=1637084">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/1637084" ref="tree=GTR&ncbi_uid=1637084&link_uid=1637084" title="View MedGen record for 'Mitochondrial DNA depletion syndrome, encephalomyopathic form'">Mitochondrial DNA depletion syndrome, encephalomyopathic form</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0342784[DISCUI]&test_type=Clinical" ref="ncbi_uid=87459">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=87459" target="_blank" href="/omim/557000">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1203/" ref="ncbi_uid=87459">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=87459" ref="ncbi_uid=87459">V</a></span></span><span class="TLline"><a href="/medgen/87459" ref="tree=GTR&ncbi_uid=87459&link_uid=87459" title="View MedGen record for 'Pearson syndrome'">Pearson syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0162674[DISCUI]&test_type=Clinical" ref="ncbi_uid=102439">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=102439" ref="ncbi_uid=102439">V</a></span></span><span class="TLline"><a href="/medgen/102439" ref="tree=GTR&ncbi_uid=102439&link_uid=102439" title="View MedGen record for 'Progressive external ophthalmoplegia'">Progressive external ophthalmoplegia</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=381541" target="_blank" href="/omim/251945">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1224/" ref="ncbi_uid=381541">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/381541" ref="tree=GTR&ncbi_uid=381541&link_uid=381541" title="View MedGen record for 'Mitochondrial myopathy with a defect in mitochondrial-protein transport'">Mitochondrial myopathy with a defect in mitochondrial-protein transport</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3151897[DISCUI]&test_type=Clinical" ref="ncbi_uid=463247">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=463247" target="_blank" href="/omim/500008">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1422%20OR%20NBK1434)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=463247">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=463247" ref="ncbi_uid=463247">V</a></span></span><span class="TLline"><a href="/medgen/463247" ref="tree=GTR&ncbi_uid=463247&link_uid=463247" title="View MedGen record for 'Mitochondrial non-syndromic sensorineural hearing loss'">Mitochondrial non-syndromic sensorineural hearing loss</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1328349[DISCUI]&test_type=Clinical" ref="ncbi_uid=231285">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=231285" target="_blank" href="/omim/516060">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1173%20OR%20NBK1224)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=231285">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=231285" ref="ncbi_uid=231285">V</a></span></span><span class="TLline"><a href="/medgen/231285" ref="tree=GTR&ncbi_uid=231285&link_uid=231285" title="View MedGen record for 'NARP syndrome'">NARP syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=374113" target="_blank" href="/omim/500003">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=374113" ref="ncbi_uid=374113">V</a></span></span><span class="TLline"><a href="/medgen/374113" ref="tree=GTR&ncbi_uid=374113&link_uid=374113" title="View MedGen record for 'Striatonigral degeneration, infantile, mitochondrial'">Striatonigral degeneration, infantile, mitochondrial</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0027832[DISCUI]&test_type=Clinical" ref="ncbi_uid=18014">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=18014" target="_blank" href="/omim/101000">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1201/" ref="ncbi_uid=18014">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=18014" ref="ncbi_uid=18014">V</a></span></span><span class="TLline"><a href="/medgen/18014" ref="tree=GTR&ncbi_uid=18014&link_uid=18014" title="View MedGen record for 'Neurofibromatosis, type 2'">Neurofibromatosis, type 2</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5680182[DISCUI]&test_type=Clinical" ref="ncbi_uid=1830101">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1830101" ref="ncbi_uid=1830101">V</a></span></span><span class="TLline"><a href="/medgen/1830101" ref="tree=GTR&ncbi_uid=1830101&link_uid=1830101" title="View MedGen record for 'Nonsyndromic genetic hearing loss'">Nonsyndromic genetic hearing loss</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5779548[DISCUI]&test_type=Clinical" ref="ncbi_uid=1843285">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1843285" ref="ncbi_uid=1843285">V</a></span></span><span class="TLline"><a href="/medgen/1843285" ref="tree=GTR&ncbi_uid=1843285&link_uid=1843285" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss'">Autosomal dominant nonsyndromic hearing loss</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1852282[DISCUI]&test_type=Clinical" ref="ncbi_uid=343767">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=343767" target="_blank" href="/omim/124900">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=343767">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=343767" ref="ncbi_uid=343767">V</a></span></span><span class="TLline"><a href="/medgen/343767" ref="tree=GTR&ncbi_uid=343767&link_uid=343767" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 1'">Autosomal dominant nonsyndromic hearing loss 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1832932[DISCUI]&test_type=Clinical" ref="ncbi_uid=331398">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=331398" target="_blank" href="/omim/600994">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=331398">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=331398" ref="ncbi_uid=331398">V</a></span></span><span class="TLline"><a href="/medgen/331398" ref="tree=GTR&ncbi_uid=331398&link_uid=331398" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 5'">Autosomal dominant nonsyndromic hearing loss 5</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1833021[DISCUI]&test_type=Clinical" ref="ncbi_uid=331419">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=331419" target="_blank" href="/omim/600965">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1434%20OR%20NBK4144)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=331419">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=331419" ref="ncbi_uid=331419">V</a></span></span><span class="TLline"><a href="/medgen/331419" ref="tree=GTR&ncbi_uid=331419&link_uid=331419" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 6'">Autosomal dominant nonsyndromic hearing loss 6</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1832379[DISCUI]&test_type=Clinical" ref="ncbi_uid=318614">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=318614" target="_blank" href="/omim/600298">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=318614" ref="ncbi_uid=318614">V</a></span></span><span class="TLline"><a href="/medgen/318614" ref="tree=GTR&ncbi_uid=318614&link_uid=318614" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 7'">Autosomal dominant nonsyndromic hearing loss 7</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1832425[DISCUI]&test_type=Clinical" ref="ncbi_uid=371327">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=371327" target="_blank" href="/omim/601369">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=371327">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=371327" ref="ncbi_uid=371327">V</a></span></span><span class="TLline"><a href="/medgen/371327" ref="tree=GTR&ncbi_uid=371327&link_uid=371327" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 9'">Autosomal dominant nonsyndromic hearing loss 9</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1832476[DISCUI]&test_type=Clinical" ref="ncbi_uid=321966">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=321966" target="_blank" href="/omim/601316">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=321966">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=321966" ref="ncbi_uid=321966">V</a></span></span><span class="TLline"><a href="/medgen/321966" ref="tree=GTR&ncbi_uid=321966&link_uid=321966" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 10'">Autosomal dominant nonsyndromic hearing loss 10</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1832475[DISCUI]&test_type=Clinical" ref="ncbi_uid=331297">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=331297" target="_blank" href="/omim/276903">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=331297">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=331297" ref="ncbi_uid=331297">V</a></span></span><span class="TLline"><a href="/medgen/331297" ref="tree=GTR&ncbi_uid=331297&link_uid=331297" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 11'">Autosomal dominant nonsyndromic hearing loss 11</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1832187[DISCUI]&test_type=Clinical" ref="ncbi_uid=321902">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=321902" target="_blank" href="/omim/601543">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=321902">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=321902" ref="ncbi_uid=321902">V</a></span></span><span class="TLline"><a href="/medgen/321902" ref="tree=GTR&ncbi_uid=321902&link_uid=321902" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 12'">Autosomal dominant nonsyndromic hearing loss 12</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1866095[DISCUI]&test_type=Clinical" ref="ncbi_uid=400917">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=400917" target="_blank" href="/omim/120290">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=400917">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=400917" ref="ncbi_uid=400917">V</a></span></span><span class="TLline"><a href="/medgen/400917" ref="tree=GTR&ncbi_uid=400917&link_uid=400917" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 13'">Autosomal dominant nonsyndromic hearing loss 13</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1865366[DISCUI]&test_type=Clinical" ref="ncbi_uid=355451">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=355451" target="_blank" href="/omim/602459">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=355451">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=355451" ref="ncbi_uid=355451">V</a></span></span><span class="TLline"><a href="/medgen/355451" ref="tree=GTR&ncbi_uid=355451&link_uid=355451" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 15'">Autosomal dominant nonsyndromic hearing loss 15</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=349054" target="_blank" href="/omim/603964">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=349054" ref="ncbi_uid=349054">V</a></span></span><span class="TLline"><a href="/medgen/349054" ref="tree=GTR&ncbi_uid=349054&link_uid=349054" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 16'">Autosomal dominant nonsyndromic hearing loss 16</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1863659[DISCUI]&test_type=Clinical" ref="ncbi_uid=350942">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=350942" target="_blank" href="/omim/160775">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=350942">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=350942" ref="ncbi_uid=350942">V</a></span></span><span class="TLline"><a href="/medgen/350942" ref="tree=GTR&ncbi_uid=350942&link_uid=350942" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 17'">Autosomal dominant nonsyndromic hearing loss 17</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=340051" target="_blank" href="/omim/606012">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/340051" ref="tree=GTR&ncbi_uid=340051&link_uid=340051" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 18'">Autosomal dominant nonsyndromic hearing loss 18</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1858172[DISCUI]&test_type=Clinical" ref="ncbi_uid=346852">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=346852" target="_blank" href="/omim/102560">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=346852">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=346852" ref="ncbi_uid=346852">V</a></span></span><span class="TLline"><a href="/medgen/346852" ref="tree=GTR&ncbi_uid=346852&link_uid=346852" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 20'">Autosomal dominant nonsyndromic hearing loss 20</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1846922[DISCUI]&test_type=Clinical" ref="ncbi_uid=339643">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=339643" target="_blank" href="/omim/607017">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=339643" ref="ncbi_uid=339643">V</a></span></span><span class="TLline"><a href="/medgen/339643" ref="tree=GTR&ncbi_uid=339643&link_uid=339643" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 21'">Autosomal dominant nonsyndromic hearing loss 21</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2931767[DISCUI]&test_type=Clinical" ref="ncbi_uid=419894">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=419894" target="_blank" href="/omim/600970">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=419894">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=419894" ref="ncbi_uid=419894">V</a></span></span><span class="TLline"><a href="/medgen/419894" ref="tree=GTR&ncbi_uid=419894&link_uid=419894" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 22'">Autosomal dominant nonsyndromic hearing loss 22</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1854594[DISCUI]&test_type=Clinical" ref="ncbi_uid=343162">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=343162" target="_blank" href="/omim/601205">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=343162">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=343162" ref="ncbi_uid=343162">V</a></span></span><span class="TLline"><a href="/medgen/343162" ref="tree=GTR&ncbi_uid=343162&link_uid=343162" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 23'">Autosomal dominant nonsyndromic hearing loss 23</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=377905" target="_blank" href="/omim/606282">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/377905" ref="tree=GTR&ncbi_uid=377905&link_uid=377905" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 24'">Autosomal dominant nonsyndromic hearing loss 24</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1854158[DISCUI]&test_type=Clinical" ref="ncbi_uid=344221">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=344221" target="_blank" href="/omim/605583">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=344221">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=344221" ref="ncbi_uid=344221">V</a></span></span><span class="TLline"><a href="/medgen/344221" ref="tree=GTR&ncbi_uid=344221&link_uid=344221" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 25'">Autosomal dominant nonsyndromic hearing loss 25</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3887929[DISCUI]&test_type=Clinical" ref="ncbi_uid=854637">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=854637" target="_blank" href="/omim/600571">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=854637" ref="ncbi_uid=854637">V</a></span></span><span class="TLline"><a href="/medgen/854637" ref="tree=GTR&ncbi_uid=854637&link_uid=854637" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 27'">Autosomal dominant nonsyndromic hearing loss 27</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1837640[DISCUI]&test_type=Clinical" ref="ncbi_uid=324846">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=324846" target="_blank" href="/omim/608576">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=324846">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=324846" ref="ncbi_uid=324846">V</a></span></span><span class="TLline"><a href="/medgen/324846" ref="tree=GTR&ncbi_uid=324846&link_uid=324846" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 28'">Autosomal dominant nonsyndromic hearing loss 28</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2677637[DISCUI]&test_type=Clinical" ref="ncbi_uid=436997">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=436997" target="_blank" href="/omim/600101">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1209%20OR%20NBK1434)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=436997">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=436997" ref="ncbi_uid=436997">V</a></span></span><span class="TLline"><a href="/medgen/436997" ref="tree=GTR&ncbi_uid=436997&link_uid=436997" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 2A'">Autosomal dominant nonsyndromic hearing loss 2A</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2675236[DISCUI]&test_type=Clinical" ref="ncbi_uid=390742">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=390742" target="_blank" href="/omim/603324">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=390742">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=390742" ref="ncbi_uid=390742">V</a></span></span><span class="TLline"><a href="/medgen/390742" ref="tree=GTR&ncbi_uid=390742&link_uid=390742" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 2B'">Autosomal dominant nonsyndromic hearing loss 2B</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=341116" target="_blank" href="/omim/606451">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=341116" ref="ncbi_uid=341116">V</a></span></span><span class="TLline"><a href="/medgen/341116" ref="tree=GTR&ncbi_uid=341116&link_uid=341116" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 30'">Autosomal dominant nonsyndromic hearing loss 30</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=325209" target="_blank" href="/omim/608645">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/325209" ref="tree=GTR&ncbi_uid=325209&link_uid=325209" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 31'">Autosomal dominant nonsyndromic hearing loss 31</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=854638" target="_blank" href="/omim/614211">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=854638" ref="ncbi_uid=854638">V</a></span></span><span class="TLline"><a href="/medgen/854638" ref="tree=GTR&ncbi_uid=854638&link_uid=854638" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 33'">Autosomal dominant nonsyndromic hearing loss 33</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1847626[DISCUI]&test_type=Clinical" ref="ncbi_uid=376173">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=376173" target="_blank" href="/omim/606705">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=376173">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=376173" ref="ncbi_uid=376173">V</a></span></span><span class="TLline"><a href="/medgen/376173" ref="tree=GTR&ncbi_uid=376173&link_uid=376173" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 36'">Autosomal dominant nonsyndromic hearing loss 36</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1842371[DISCUI]&test_type=Clinical" ref="ncbi_uid=330834">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=330834" target="_blank" href="/omim/600844">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=330834" ref="ncbi_uid=330834">V</a></span></span><span class="TLline"><a href="/medgen/330834" ref="tree=GTR&ncbi_uid=330834&link_uid=330834" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 41'">Autosomal dominant nonsyndromic hearing loss 41</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=330769" target="_blank" href="/omim/608394">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/330769" ref="tree=GTR&ncbi_uid=330769&link_uid=330769" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 43'">Autosomal dominant nonsyndromic hearing loss 43</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1843895[DISCUI]&test_type=Clinical" ref="ncbi_uid=334525">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=334525" target="_blank" href="/omim/607453">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=334525">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=334525" ref="ncbi_uid=334525">V</a></span></span><span class="TLline"><a href="/medgen/334525" ref="tree=GTR&ncbi_uid=334525&link_uid=334525" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 44'">Autosomal dominant nonsyndromic hearing loss 44</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=324838" target="_blank" href="/omim/608652">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/324838" ref="tree=GTR&ncbi_uid=324838&link_uid=324838" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 47'">Autosomal dominant nonsyndromic hearing loss 47</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1842939[DISCUI]&test_type=Clinical" ref="ncbi_uid=375052">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=375052" target="_blank" href="/omim/607841">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=375052">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=375052" ref="ncbi_uid=375052">V</a></span></span><span class="TLline"><a href="/medgen/375052" ref="tree=GTR&ncbi_uid=375052&link_uid=375052" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 48'">Autosomal dominant nonsyndromic hearing loss 48</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=331222" target="_blank" href="/omim/608372">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/331222" ref="tree=GTR&ncbi_uid=331222&link_uid=331222" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 49'">Autosomal dominant nonsyndromic hearing loss 49</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1833503[DISCUI]&test_type=Clinical" ref="ncbi_uid=322209">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=322209" target="_blank" href="/omim/600652">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=322209">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=322209" ref="ncbi_uid=322209">V</a></span></span><span class="TLline"><a href="/medgen/322209" ref="tree=GTR&ncbi_uid=322209&link_uid=322209" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 4A'">Autosomal dominant nonsyndromic hearing loss 4A</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3888123[DISCUI]&test_type=Clinical" ref="ncbi_uid=854780">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=854780" target="_blank" href="/omim/611606">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=854780">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=854780" ref="ncbi_uid=854780">V</a></span></span><span class="TLline"><a href="/medgen/854780" ref="tree=GTR&ncbi_uid=854780&link_uid=854780" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 50'">Autosomal dominant nonsyndromic hearing loss 50</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3160736[DISCUI]&test_type=Clinical" ref="ncbi_uid=463625">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=463625" target="_blank" href="/omim/613558">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=463625" ref="ncbi_uid=463625">V</a></span></span><span class="TLline"><a href="/medgen/463625" ref="tree=GTR&ncbi_uid=463625&link_uid=463625" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 51'">Autosomal dominant nonsyndromic hearing loss 51</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/334357" ref="tree=GTR&ncbi_uid=334357&link_uid=334357" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 52'">Autosomal dominant nonsyndromic hearing loss 52</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=355336" target="_blank" href="/omim/609965">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/355336" ref="tree=GTR&ncbi_uid=355336&link_uid=355336" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 53'">Autosomal dominant nonsyndromic hearing loss 53</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=390743" target="_blank" href="/omim/612642">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/390743" ref="tree=GTR&ncbi_uid=390743&link_uid=390743" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 59'">Autosomal dominant nonsyndromic hearing loss 59</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3279948[DISCUI]&test_type=Clinical" ref="ncbi_uid=481578">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=481578" target="_blank" href="/omim/605219">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=481578" ref="ncbi_uid=481578">V</a></span></span><span class="TLline"><a href="/medgen/481578" ref="tree=GTR&ncbi_uid=481578&link_uid=481578" title="View MedGen record for 'Autosomal dominant nonsyndromic hearing loss 64'">Autosomal dominant nonsyndromic hearing loss 64</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=CN043650[DISCUI]&test_type=Clinical" ref="ncbi_uid=432739">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=432739" ref="ncbi_uid=432739">V</a></span></span><span class="TLline"><a href="/medgen/432739" ref="tree=GTR&ncbi_uid=432739&link_uid=432739" title="View MedGen record for 'Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive'">Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1838701[DISCUI]&test_type=Clinical" ref="ncbi_uid=325485">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=325485" target="_blank" href="/omim/276903">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=325485" ref="ncbi_uid=325485">V</a></span></span><span class="TLline"><a href="/medgen/325485" ref="tree=GTR&ncbi_uid=325485&link_uid=325485" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 2'">Autosomal recessive nonsyndromic hearing loss 2</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1838263[DISCUI]&test_type=Clinical" ref="ncbi_uid=325373">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=325373" target="_blank" href="/omim/600316">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=325373">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=325373" ref="ncbi_uid=325373">V</a></span></span><span class="TLline"><a href="/medgen/325373" ref="tree=GTR&ncbi_uid=325373&link_uid=325373" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 3'">Autosomal recessive nonsyndromic hearing loss 3</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3538946[DISCUI]&test_type=Clinical" ref="ncbi_uid=761234">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=761234" target="_blank" href="/omim/600791">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1434%20OR%20NBK1467)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=761234">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=761234" ref="ncbi_uid=761234">V</a></span></span><span class="TLline"><a href="/medgen/761234" ref="tree=GTR&ncbi_uid=761234&link_uid=761234" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 4'">Autosomal recessive nonsyndromic hearing loss 4</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=331485" target="_blank" href="/omim/600792">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/331485" ref="tree=GTR&ncbi_uid=331485&link_uid=331485" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 5'">Autosomal recessive nonsyndromic hearing loss 5</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1832992[DISCUI]&test_type=Clinical" ref="ncbi_uid=322088">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=322088" target="_blank" href="/omim/600971">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=322088">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=322088" ref="ncbi_uid=322088">V</a></span></span><span class="TLline"><a href="/medgen/322088" ref="tree=GTR&ncbi_uid=322088&link_uid=322088" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 6'">Autosomal recessive nonsyndromic hearing loss 6</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1832978[DISCUI]&test_type=Clinical" ref="ncbi_uid=322084">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=322084" target="_blank" href="/omim/600974">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=322084">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=322084" ref="ncbi_uid=322084">V</a></span></span><span class="TLline"><a href="/medgen/322084" ref="tree=GTR&ncbi_uid=322084&link_uid=322084" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 7'">Autosomal recessive nonsyndromic hearing loss 7</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1832827[DISCUI]&test_type=Clinical" ref="ncbi_uid=322046">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=322046" target="_blank" href="/omim/601072">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=322046">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=322046" ref="ncbi_uid=322046">V</a></span></span><span class="TLline"><a href="/medgen/322046" ref="tree=GTR&ncbi_uid=322046&link_uid=322046" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 8'">Autosomal recessive nonsyndromic hearing loss 8</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1832828[DISCUI]&test_type=Clinical" ref="ncbi_uid=331376">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=331376" target="_blank" href="/omim/601071">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1251%20OR%20NBK1434)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=331376">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=331376" ref="ncbi_uid=331376">V</a></span></span><span class="TLline"><a href="/medgen/331376" ref="tree=GTR&ncbi_uid=331376&link_uid=331376" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 9'">Autosomal recessive nonsyndromic hearing loss 9</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1832394[DISCUI]&test_type=Clinical" ref="ncbi_uid=330455">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=330455" target="_blank" href="/omim/601386">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=330455">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=330455" ref="ncbi_uid=330455">V</a></span></span><span class="TLline"><a href="/medgen/330455" ref="tree=GTR&ncbi_uid=330455&link_uid=330455" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 12'">Autosomal recessive nonsyndromic hearing loss 12</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=350361" target="_blank" href="/omim/603098">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/350361" ref="tree=GTR&ncbi_uid=350361&link_uid=350361" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 13'">Autosomal recessive nonsyndromic hearing loss 13</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=350931" target="_blank" href="/omim/603678">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/350931" ref="tree=GTR&ncbi_uid=350931&link_uid=350931" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 14'">Autosomal recessive nonsyndromic hearing loss 14</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1866094[DISCUI]&test_type=Clinical" ref="ncbi_uid=355626">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=355626" target="_blank" href="/omim/601869">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=355626" ref="ncbi_uid=355626">V</a></span></span><span class="TLline"><a href="/medgen/355626" ref="tree=GTR&ncbi_uid=355626&link_uid=355626" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 15'">Autosomal recessive nonsyndromic hearing loss 15</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1863561[DISCUI]&test_type=Clinical" ref="ncbi_uid=350211">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=350211" target="_blank" href="/omim/603720">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1434%20OR%20NBK598310)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=350211">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=350211" ref="ncbi_uid=350211">V</a></span></span><span class="TLline"><a href="/medgen/350211" ref="tree=GTR&ncbi_uid=350211&link_uid=350211" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 16'">Autosomal recessive nonsyndromic hearing loss 16</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=355180" target="_blank" href="/omim/603010">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/355180" ref="tree=GTR&ncbi_uid=355180&link_uid=355180" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 17'">Autosomal recessive nonsyndromic hearing loss 17</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1865870[DISCUI]&test_type=Clinical" ref="ncbi_uid=356389">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=356389" target="_blank" href="/omim/602092">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=356389">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=356389" ref="ncbi_uid=356389">V</a></span></span><span class="TLline"><a href="/medgen/356389" ref="tree=GTR&ncbi_uid=356389&link_uid=356389" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 18A'">Autosomal recessive nonsyndromic hearing loss 18A</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2673759[DISCUI]&test_type=Clinical" ref="ncbi_uid=388720">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=388720" target="_blank" href="/omim/121011">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1272%20OR%20NBK1434)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=388720">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=388720" ref="ncbi_uid=388720">V</a></span></span><span class="TLline"><a href="/medgen/388720" ref="tree=GTR&ncbi_uid=388720&link_uid=388720" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 1A'">Autosomal recessive nonsyndromic hearing loss 1A</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2675235[DISCUI]&test_type=Clinical" ref="ncbi_uid=436381">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=436381" target="_blank" href="/omim/604418">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=436381" ref="ncbi_uid=436381">V</a></span></span><span class="TLline"><a href="/medgen/436381" ref="tree=GTR&ncbi_uid=436381&link_uid=436381" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 1B'">Autosomal recessive nonsyndromic hearing loss 1B</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=347005" target="_blank" href="/omim/604060">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/347005" ref="tree=GTR&ncbi_uid=347005&link_uid=347005" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 20'">Autosomal recessive nonsyndromic hearing loss 20</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1863655[DISCUI]&test_type=Clinical" ref="ncbi_uid=355030">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=355030" target="_blank" href="/omim/603629">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=355030">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=355030" ref="ncbi_uid=355030">V</a></span></span><span class="TLline"><a href="/medgen/355030" ref="tree=GTR&ncbi_uid=355030&link_uid=355030" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 21'">Autosomal recessive nonsyndromic hearing loss 21</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1846896[DISCUI]&test_type=Clinical" ref="ncbi_uid=339636">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=339636" target="_blank" href="/omim/607038">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=339636">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=339636" ref="ncbi_uid=339636">V</a></span></span><span class="TLline"><a href="/medgen/339636" ref="tree=GTR&ncbi_uid=339636&link_uid=339636" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 22'">Autosomal recessive nonsyndromic hearing loss 22</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1836027[DISCUI]&test_type=Clinical" ref="ncbi_uid=332110">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=332110" target="_blank" href="/omim/605514">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=332110">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=332110" ref="ncbi_uid=332110">V</a></span></span><span class="TLline"><a href="/medgen/332110" ref="tree=GTR&ncbi_uid=332110&link_uid=332110" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 23'">Autosomal recessive nonsyndromic hearing loss 23</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1970239[DISCUI]&test_type=Clinical" ref="ncbi_uid=370208">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=370208" target="_blank" href="/omim/179410">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=370208">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=370208" ref="ncbi_uid=370208">V</a></span></span><span class="TLline"><a href="/medgen/370208" ref="tree=GTR&ncbi_uid=370208&link_uid=370208" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 24'">Autosomal recessive nonsyndromic hearing loss 24</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1414017[DISCUI]&test_type=Clinical" ref="ncbi_uid=237587">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=237587" target="_blank" href="/omim/613283">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=237587" ref="ncbi_uid=237587">V</a></span></span><span class="TLline"><a href="/medgen/237587" ref="tree=GTR&ncbi_uid=237587&link_uid=237587" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 25'">Autosomal recessive nonsyndromic hearing loss 25</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1854275[DISCUI]&test_type=Clinical" ref="ncbi_uid=340185">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=340185" target="_blank" href="/omim/604439">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=340185" ref="ncbi_uid=340185">V</a></span></span><span class="TLline"><a href="/medgen/340185" ref="tree=GTR&ncbi_uid=340185&link_uid=340185" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 26'">Autosomal recessive nonsyndromic hearing loss 26</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=381303" target="_blank" href="/omim/605818">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/381303" ref="tree=GTR&ncbi_uid=381303&link_uid=381303" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 27'">Autosomal recessive nonsyndromic hearing loss 27</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1853276[DISCUI]&test_type=Clinical" ref="ncbi_uid=342839">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=342839" target="_blank" href="/omim/609761">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=342839">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=342839" ref="ncbi_uid=342839">V</a></span></span><span class="TLline"><a href="/medgen/342839" ref="tree=GTR&ncbi_uid=342839&link_uid=342839" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 28'">Autosomal recessive nonsyndromic hearing loss 28</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3279660[DISCUI]&test_type=Clinical" ref="ncbi_uid=481290">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=481290" target="_blank" href="/omim/605608">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=481290" ref="ncbi_uid=481290">V</a></span></span><span class="TLline"><a href="/medgen/481290" ref="tree=GTR&ncbi_uid=481290&link_uid=481290" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 29'">Autosomal recessive nonsyndromic hearing loss 29</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1846784[DISCUI]&test_type=Clinical" ref="ncbi_uid=335521">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=335521" target="_blank" href="/omim/606808">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=335521">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=335521" ref="ncbi_uid=335521">V</a></span></span><span class="TLline"><a href="/medgen/335521" ref="tree=GTR&ncbi_uid=335521&link_uid=335521" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 30'">Autosomal recessive nonsyndromic hearing loss 30</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1846839[DISCUI]&test_type=Clinical" ref="ncbi_uid=339621">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=339621" target="_blank" href="/omim/607084">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=339621">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=339621" ref="ncbi_uid=339621">V</a></span></span><span class="TLline"><a href="/medgen/339621" ref="tree=GTR&ncbi_uid=339621&link_uid=339621" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 31'">Autosomal recessive nonsyndromic hearing loss 31</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1837608[DISCUI]&test_type=Clinical" ref="ncbi_uid=373370">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=373370" target="_blank" href="/omim/603504">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=373370" ref="ncbi_uid=373370">V</a></span></span><span class="TLline"><a href="/medgen/373370" ref="tree=GTR&ncbi_uid=373370&link_uid=373370" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 32'">Autosomal recessive nonsyndromic hearing loss 32</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=335464" target="_blank" href="/omim/607239">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/335464" ref="tree=GTR&ncbi_uid=335464&link_uid=335464" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 33'">Autosomal recessive nonsyndromic hearing loss 33</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1837857[DISCUI]&test_type=Clinical" ref="ncbi_uid=324897">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=324897" target="_blank" href="/omim/602167">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=324897">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=324897" ref="ncbi_uid=324897">V</a></span></span><span class="TLline"><a href="/medgen/324897" ref="tree=GTR&ncbi_uid=324897&link_uid=324897" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 35'">Autosomal recessive nonsyndromic hearing loss 35</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1837007[DISCUI]&test_type=Clinical" ref="ncbi_uid=324662">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=324662" target="_blank" href="/omim/609006">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=324662">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=324662" ref="ncbi_uid=324662">V</a></span></span><span class="TLline"><a href="/medgen/324662" ref="tree=GTR&ncbi_uid=324662&link_uid=324662" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 36'">Autosomal recessive nonsyndromic hearing loss 36</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1843028[DISCUI]&test_type=Clinical" ref="ncbi_uid=375076">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=375076" target="_blank" href="/omim/600970">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=375076">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=375076" ref="ncbi_uid=375076">V</a></span></span><span class="TLline"><a href="/medgen/375076" ref="tree=GTR&ncbi_uid=375076&link_uid=375076" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 37'">Autosomal recessive nonsyndromic hearing loss 37</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=330838" target="_blank" href="/omim/608219">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/330838" ref="tree=GTR&ncbi_uid=330838&link_uid=330838" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 38'">Autosomal recessive nonsyndromic hearing loss 38</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1842342[DISCUI]&test_type=Clinical" ref="ncbi_uid=374909">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=374909" target="_blank" href="/omim/142409">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=374909">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=374909" ref="ncbi_uid=374909">V</a></span></span><span class="TLline"><a href="/medgen/374909" ref="tree=GTR&ncbi_uid=374909&link_uid=374909" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 39'">Autosomal recessive nonsyndromic hearing loss 39</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=334053" target="_blank" href="/omim/608264">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/334053" ref="tree=GTR&ncbi_uid=334053&link_uid=334053" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 40'">Autosomal recessive nonsyndromic hearing loss 40</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1864818[DISCUI]&test_type=Clinical" ref="ncbi_uid=351225">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=351225" target="_blank" href="/omim/609646">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=351225" ref="ncbi_uid=351225">V</a></span></span><span class="TLline"><a href="/medgen/351225" ref="tree=GTR&ncbi_uid=351225&link_uid=351225" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 42'">Autosomal recessive nonsyndromic hearing loss 42</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1857809[DISCUI]&test_type=Clinical" ref="ncbi_uid=341854">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=341854" target="_blank" href="/omim/103072">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=341854" ref="ncbi_uid=341854">V</a></span></span><span class="TLline"><a href="/medgen/341854" ref="tree=GTR&ncbi_uid=341854&link_uid=341854" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 44'">Autosomal recessive nonsyndromic hearing loss 44</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=854732" target="_blank" href="/omim/612433">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/854732" ref="tree=GTR&ncbi_uid=854732&link_uid=854732" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 45'">Autosomal recessive nonsyndromic hearing loss 45</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=355302" target="_blank" href="/omim/609647">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/355302" ref="tree=GTR&ncbi_uid=355302&link_uid=355302" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 46'">Autosomal recessive nonsyndromic hearing loss 46</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=355339" target="_blank" href="/omim/609946">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/355339" ref="tree=GTR&ncbi_uid=355339&link_uid=355339" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 47'">Autosomal recessive nonsyndromic hearing loss 47</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1836199[DISCUI]&test_type=Clinical" ref="ncbi_uid=332149">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=332149" target="_blank" href="/omim/605564">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=332149" ref="ncbi_uid=332149">V</a></span></span><span class="TLline"><a href="/medgen/332149" ref="tree=GTR&ncbi_uid=332149&link_uid=332149" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 48'">Autosomal recessive nonsyndromic hearing loss 48</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1857811[DISCUI]&test_type=Clinical" ref="ncbi_uid=346670">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=346670" target="_blank" href="/omim/610153">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=346670">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=346670" ref="ncbi_uid=346670">V</a></span></span><span class="TLline"><a href="/medgen/346670" ref="tree=GTR&ncbi_uid=346670&link_uid=346670" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 49'">Autosomal recessive nonsyndromic hearing loss 49</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=355880" target="_blank" href="/omim/609941">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/355880" ref="tree=GTR&ncbi_uid=355880&link_uid=355880" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 51'">Autosomal recessive nonsyndromic hearing loss 51</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1864746[DISCUI]&test_type=Clinical" ref="ncbi_uid=400602">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=400602" target="_blank" href="/omim/120290">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=400602" ref="ncbi_uid=400602">V</a></span></span><span class="TLline"><a href="/medgen/400602" ref="tree=GTR&ncbi_uid=400602&link_uid=400602" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 53'">Autosomal recessive nonsyndromic hearing loss 53</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=355338" target="_blank" href="/omim/609952">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/355338" ref="tree=GTR&ncbi_uid=355338&link_uid=355338" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 55'">Autosomal recessive nonsyndromic hearing loss 55</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1857744[DISCUI]&test_type=Clinical" ref="ncbi_uid=387899">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=387899" target="_blank" href="/omim/610219">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=387899">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=387899" ref="ncbi_uid=387899">V</a></span></span><span class="TLline"><a href="/medgen/387899" ref="tree=GTR&ncbi_uid=387899&link_uid=387899" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 59'">Autosomal recessive nonsyndromic hearing loss 59</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3151230[DISCUI]&test_type=Clinical" ref="ncbi_uid=462580">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462580" target="_blank" href="/omim/604943">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462580" ref="ncbi_uid=462580">V</a></span></span><span class="TLline"><a href="/medgen/462580" ref="tree=GTR&ncbi_uid=462580&link_uid=462580" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 61'">Autosomal recessive nonsyndromic hearing loss 61</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=387916" target="_blank" href="/omim/610143">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/387916" ref="tree=GTR&ncbi_uid=387916&link_uid=387916" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 62'">Autosomal recessive nonsyndromic hearing loss 62</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1969621[DISCUI]&test_type=Clinical" ref="ncbi_uid=409872">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=409872" target="_blank" href="/omim/611451">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=409872">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=409872" ref="ncbi_uid=409872">V</a></span></span><span class="TLline"><a href="/medgen/409872" ref="tree=GTR&ncbi_uid=409872&link_uid=409872" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 63'">Autosomal recessive nonsyndromic hearing loss 63</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=344004" target="_blank" href="/omim/610248">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/344004" ref="tree=GTR&ncbi_uid=344004&link_uid=344004" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 65'">Autosomal recessive nonsyndromic hearing loss 65</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1857750[DISCUI]&test_type=Clinical" ref="ncbi_uid=346659">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=346659" target="_blank" href="/omim/605755">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=346659" ref="ncbi_uid=346659">V</a></span></span><span class="TLline"><a href="/medgen/346659" ref="tree=GTR&ncbi_uid=346659&link_uid=346659" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 66'">Autosomal recessive nonsyndromic hearing loss 66</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1853223[DISCUI]&test_type=Clinical" ref="ncbi_uid=343997">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=343997" target="_blank" href="/omim/609427">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=343997">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=343997" ref="ncbi_uid=343997">V</a></span></span><span class="TLline"><a href="/medgen/343997" ref="tree=GTR&ncbi_uid=343997&link_uid=343997" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 67'">Autosomal recessive nonsyndromic hearing loss 67</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1835854[DISCUI]&test_type=Clinical" ref="ncbi_uid=324374">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=324374" target="_blank" href="/omim/605111">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=324374" ref="ncbi_uid=324374">V</a></span></span><span class="TLline"><a href="/medgen/324374" ref="tree=GTR&ncbi_uid=324374&link_uid=324374" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 68'">Autosomal recessive nonsyndromic hearing loss 68</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=411609" target="_blank" href="/omim/612789">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/411609" ref="tree=GTR&ncbi_uid=411609&link_uid=411609" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 71'">Autosomal recessive nonsyndromic hearing loss 71</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2239351[DISCUI]&test_type=Clinical" ref="ncbi_uid=453237">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=453237" target="_blank" href="/omim/613718">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=453237" ref="ncbi_uid=453237">V</a></span></span><span class="TLline"><a href="/medgen/453237" ref="tree=GTR&ncbi_uid=453237&link_uid=453237" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 74'">Autosomal recessive nonsyndromic hearing loss 74</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2746083[DISCUI]&test_type=Clinical" ref="ncbi_uid=412541">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=412541" target="_blank" href="/omim/613072">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=412541">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=412541" ref="ncbi_uid=412541">V</a></span></span><span class="TLline"><a href="/medgen/412541" ref="tree=GTR&ncbi_uid=412541&link_uid=412541" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 77'">Autosomal recessive nonsyndromic hearing loss 77</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2750082[DISCUI]&test_type=Clinical" ref="ncbi_uid=413222">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=413222" target="_blank" href="/omim/613307">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=413222" ref="ncbi_uid=413222">V</a></span></span><span class="TLline"><a href="/medgen/413222" ref="tree=GTR&ncbi_uid=413222&link_uid=413222" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 79'">Autosomal recessive nonsyndromic hearing loss 79</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=854856" target="_blank" href="/omim/613685">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/854856" ref="tree=GTR&ncbi_uid=854856&link_uid=854856" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 83'">Autosomal recessive nonsyndromic hearing loss 83</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3150654[DISCUI]&test_type=Clinical" ref="ncbi_uid=462004">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462004" target="_blank" href="/omim/603317">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462004" ref="ncbi_uid=462004">V</a></span></span><span class="TLline"><a href="/medgen/462004" ref="tree=GTR&ncbi_uid=462004&link_uid=462004" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 84A'">Autosomal recessive nonsyndromic hearing loss 84A</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=463629" target="_blank" href="/omim/613392">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/463629" ref="tree=GTR&ncbi_uid=463629&link_uid=463629" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 85'">Autosomal recessive nonsyndromic hearing loss 85</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3151351[DISCUI]&test_type=Clinical" ref="ncbi_uid=462701">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462701" target="_blank" href="/omim/601421">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462701" ref="ncbi_uid=462701">V</a></span></span><span class="TLline"><a href="/medgen/462701" ref="tree=GTR&ncbi_uid=462701&link_uid=462701" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 89'">Autosomal recessive nonsyndromic hearing loss 89</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3150704[DISCUI]&test_type=Clinical" ref="ncbi_uid=462054">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462054" target="_blank" href="/omim/173321">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462054" ref="ncbi_uid=462054">V</a></span></span><span class="TLline"><a href="/medgen/462054" ref="tree=GTR&ncbi_uid=462054&link_uid=462054" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 91'">Autosomal recessive nonsyndromic hearing loss 91</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=854865" target="_blank" href="/omim/614414">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/854865" ref="tree=GTR&ncbi_uid=854865&link_uid=854865" title="View MedGen record for 'Autosomal recessive nonsyndromic hearing loss 96'">Autosomal recessive nonsyndromic hearing loss 96</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1858695[DISCUI]&test_type=Clinical" ref="ncbi_uid=347699">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=347699" target="_blank" href="/omim/604213">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=347699" ref="ncbi_uid=347699">V</a></span></span><span class="TLline"><a href="/medgen/347699" ref="tree=GTR&ncbi_uid=347699&link_uid=347699" title="View MedGen record for 'Chudley-McCullough syndrome'">Chudley-McCullough syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4015888[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=864325">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=864325" target="_blank" href="/omim/108733">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=864325" ref="ncbi_uid=864325">V</a></span></span><span class="TLline"><a href="/medgen/864325" ref="tree=GTR&ncbi_uid=864325&link_uid=864325" title="View MedGen record for 'Deafness, autosomal recessive 12, modifier of'">Deafness, autosomal recessive 12, modifier of</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3808414[DISCUI]&test_type=Clinical" ref="ncbi_uid=814744">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=814744" target="_blank" href="/omim/601119">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK242617/" ref="ncbi_uid=814744">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=814744" ref="ncbi_uid=814744">V</a></span></span><span class="TLline"><a href="/medgen/814744" ref="tree=GTR&ncbi_uid=814744&link_uid=814744" title="View MedGen record for 'Perrault syndrome 3'">Perrault syndrome 3</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=CN043651[DISCUI]&test_type=Clinical" ref="ncbi_uid=432740">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=432740" ref="ncbi_uid=432740">V</a></span></span><span class="TLline"><a href="/medgen/432740" ref="tree=GTR&ncbi_uid=432740&link_uid=432740" title="View MedGen record for 'X-linked deafness'">X-linked deafness</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1844678[DISCUI]&test_type=Clinical" ref="ncbi_uid=336750">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=336750" target="_blank" href="/omim/300039">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=336750">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=336750" ref="ncbi_uid=336750">V</a></span></span><span class="TLline"><a href="/medgen/336750" ref="tree=GTR&ncbi_uid=336750&link_uid=336750" title="View MedGen record for 'X-linked mixed hearing loss with perilymphatic gusher'">X-linked mixed hearing loss with perilymphatic gusher</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0265253[DISCUI]&test_type=Clinical" ref="ncbi_uid=120521">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1302/" ref="ncbi_uid=120521">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=120521" ref="ncbi_uid=120521">V</a></span></span><span class="TLline"><a href="/medgen/120521" ref="tree=GTR&ncbi_uid=120521&link_uid=120521" title="View MedGen record for 'Stickler syndrome'">Stickler syndrome</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1848488[DISCUI]&test_type=Clinical" ref="ncbi_uid=341234">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=341234" target="_blank" href="/omim/120290">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1302/" ref="ncbi_uid=341234">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=341234" ref="ncbi_uid=341234">V</a></span></span><span class="TLline"><a href="/medgen/341234" ref="tree=GTR&ncbi_uid=341234&link_uid=341234" title="View MedGen record for 'Otospondylomegaepiphyseal dysplasia, autosomal dominant'">Otospondylomegaepiphyseal dysplasia, autosomal dominant</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2020284[DISCUI]&test_type=Clinical" ref="ncbi_uid=810955">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=810955" target="_blank" href="/omim/108300">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1302%20OR%20NBK540447)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=810955">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=810955" ref="ncbi_uid=810955">V</a></span></span><span class="TLline"><a href="/medgen/810955" ref="tree=GTR&ncbi_uid=810955&link_uid=810955" title="View MedGen record for 'Stickler syndrome type 1'">Stickler syndrome type 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1858084[DISCUI]&test_type=Clinical" ref="ncbi_uid=347615">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=347615" target="_blank" href="/omim/120280">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1302/" ref="ncbi_uid=347615">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=347615" ref="ncbi_uid=347615">V</a></span></span><span class="TLline"><a href="/medgen/347615" ref="tree=GTR&ncbi_uid=347615&link_uid=347615" title="View MedGen record for 'Stickler syndrome type 2'">Stickler syndrome type 2</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3279941[DISCUI]&test_type=Clinical" ref="ncbi_uid=481571">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=481571" target="_blank" href="/omim/120210">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1302/" ref="ncbi_uid=481571">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=481571" ref="ncbi_uid=481571">V</a></span></span><span class="TLline"><a href="/medgen/481571" ref="tree=GTR&ncbi_uid=481571&link_uid=481571" title="View MedGen record for 'Stickler syndrome, type 4'">Stickler syndrome, type 4</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3280342[DISCUI]&test_type=Clinical" ref="ncbi_uid=481972">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=481972" target="_blank" href="/omim/614284">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1302/" ref="ncbi_uid=481972">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=481972" ref="ncbi_uid=481972">V</a></span></span><span class="TLline"><a href="/medgen/481972" ref="tree=GTR&ncbi_uid=481972&link_uid=481972" title="View MedGen record for 'Stickler syndrome, type 5'">Stickler syndrome, type 5</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5774207[DISCUI]&test_type=Clinical" ref="ncbi_uid=1823980">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1823980" target="_blank" href="/omim/120270">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1823980" ref="ncbi_uid=1823980">V</a></span></span><span class="TLline"><a href="/medgen/1823980" ref="tree=GTR&ncbi_uid=1823980&link_uid=1823980" title="View MedGen record for 'Stickler syndrome, type 6'">Stickler syndrome, type 6</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1836080[DISCUI]&test_type=Clinical" ref="ncbi_uid=322820">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=322820" target="_blank" href="/omim/120140">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=322820" ref="ncbi_uid=322820">V</a></span></span><span class="TLline"><a href="/medgen/322820" ref="tree=GTR&ncbi_uid=322820&link_uid=322820" title="View MedGen record for 'Stickler syndrome, type I, nonsyndromic ocular'">Stickler syndrome, type I, nonsyndromic ocular</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0271097[DISCUI]&test_type=Clinical" ref="ncbi_uid=78754">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=78754" target="_blank" href="/omim/590085">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=78754" ref="ncbi_uid=78754">V</a></span></span><span class="TLline"><a href="/medgen/78754" ref="tree=GTR&ncbi_uid=78754&link_uid=78754" title="View MedGen record for 'Usher syndrome'">Usher syndrome</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1568247[DISCUI]&test_type=Clinical" ref="ncbi_uid=292820">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=292820" target="_blank" href="/omim/276900">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1265/" ref="ncbi_uid=292820">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=292820" ref="ncbi_uid=292820">V</a></span></span><span class="TLline"><a href="/medgen/292820" ref="tree=GTR&ncbi_uid=292820&link_uid=292820" title="View MedGen record for 'Usher syndrome type 1'">Usher syndrome type 1</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2931206[DISCUI]&test_type=Clinical" ref="ncbi_uid=419358">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=419358" ref="ncbi_uid=419358">V</a></span></span><span class="TLline"><a href="/medgen/419358" ref="tree=GTR&ncbi_uid=419358&link_uid=419358" title="View MedGen record for 'Usher syndrome type 1B'">Usher syndrome type 1B</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1848604[DISCUI]&test_type=Clinical" ref="ncbi_uid=338506">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=338506" target="_blank" href="/omim/276904">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1265/" ref="ncbi_uid=338506">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=338506" ref="ncbi_uid=338506">V</a></span></span><span class="TLline"><a href="/medgen/338506" ref="tree=GTR&ncbi_uid=338506&link_uid=338506" title="View MedGen record for 'Usher syndrome type 1C'">Usher syndrome type 1C</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1832845[DISCUI]&test_type=Clinical" ref="ncbi_uid=322051">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=322051" target="_blank" href="/omim/601067">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1265/" ref="ncbi_uid=322051">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=322051" ref="ncbi_uid=322051">V</a></span></span><span class="TLline"><a href="/medgen/322051" ref="tree=GTR&ncbi_uid=322051&link_uid=322051" title="View MedGen record for 'Usher syndrome type 1D'">Usher syndrome type 1D</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1865865[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=400865">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=400865" target="_blank" href="/omim/602097">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1265/" ref="ncbi_uid=400865">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/400865" ref="tree=GTR&ncbi_uid=400865&link_uid=400865" title="View MedGen record for 'Usher syndrome type 1E'">Usher syndrome type 1E</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1865885[DISCUI]&test_type=Clinical" ref="ncbi_uid=356393">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=356393" target="_blank" href="/omim/602083">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1265/" ref="ncbi_uid=356393">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=356393" ref="ncbi_uid=356393">V</a></span></span><span class="TLline"><a href="/medgen/356393" ref="tree=GTR&ncbi_uid=356393&link_uid=356393" title="View MedGen record for 'Usher syndrome type 1F'">Usher syndrome type 1F</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1847089[DISCUI]&test_type=Clinical" ref="ncbi_uid=339683">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=339683" target="_blank" href="/omim/606943">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1265/" ref="ncbi_uid=339683">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=339683" ref="ncbi_uid=339683">V</a></span></span><span class="TLline"><a href="/medgen/339683" ref="tree=GTR&ncbi_uid=339683&link_uid=339683" title="View MedGen record for 'Usher syndrome type 1G'">Usher syndrome type 1G</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2675458[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=393392">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=393392" target="_blank" href="/omim/612632">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1265/" ref="ncbi_uid=393392">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/393392" ref="tree=GTR&ncbi_uid=393392&link_uid=393392" title="View MedGen record for 'Usher syndrome type 1H'">Usher syndrome type 1H</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0339534[DISCUI]&test_type=Clinical" ref="ncbi_uid=83288">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1341/" ref="ncbi_uid=83288">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=83288" ref="ncbi_uid=83288">V</a></span></span><span class="TLline"><a href="/medgen/83288" ref="tree=GTR&ncbi_uid=83288&link_uid=83288" title="View MedGen record for 'Usher syndrome type 2'">Usher syndrome type 2</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1568248[DISCUI]&test_type=Clinical" ref="ncbi_uid=339336">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=339336" ref="ncbi_uid=339336">V</a></span></span><span class="TLline"><a href="/medgen/339336" ref="tree=GTR&ncbi_uid=339336&link_uid=339336" title="View MedGen record for 'Usher syndrome type 3'">Usher syndrome type 3</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5779850[DISCUI]&test_type=Clinical" ref="ncbi_uid=1830415">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1830415" target="_blank" href="/omim/276902">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1830415" ref="ncbi_uid=1830415">V</a></span></span><span class="TLline"><a href="/medgen/1830415" ref="tree=GTR&ncbi_uid=1830415&link_uid=1830415" title="View MedGen record for 'Usher syndrome type 3A'">Usher syndrome type 3A</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3281066[DISCUI]&test_type=Clinical" ref="ncbi_uid=482696">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=482696" target="_blank" href="/omim/142810">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=482696" ref="ncbi_uid=482696">V</a></span></span><span class="TLline"><a href="/medgen/482696" ref="tree=GTR&ncbi_uid=482696&link_uid=482696" title="View MedGen record for 'Usher syndrome type 3B'">Usher syndrome type 3B</a></span></li></ul></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1847800[DISCUI]&test_type=Clinical" ref="ncbi_uid=376211">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=376211" target="_blank" href="/omim/193500">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1531/" ref="ncbi_uid=376211">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=376211" ref="ncbi_uid=376211">V</a></span></span><span class="TLline"><a href="/medgen/376211" ref="tree=GTR&ncbi_uid=376211&link_uid=376211" title="View MedGen record for 'Waardenburg syndrome type 1'">Waardenburg syndrome type 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2700265[DISCUI]&test_type=Clinical" ref="ncbi_uid=398443">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=398443" ref="ncbi_uid=398443">V</a></span></span><span class="TLline"><a href="/medgen/398443" ref="tree=GTR&ncbi_uid=398443&link_uid=398443" title="View MedGen record for 'Waardenburg syndrome type 2'">Waardenburg syndrome type 2</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1860339[DISCUI]&test_type=Clinical" ref="ncbi_uid=349786">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=349786" target="_blank" href="/omim/156845">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=349786" ref="ncbi_uid=349786">V</a></span></span><span class="TLline"><a href="/medgen/349786" ref="tree=GTR&ncbi_uid=349786&link_uid=349786" title="View MedGen record for 'Waardenburg syndrome type 2A'">Waardenburg syndrome type 2A</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1838447[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=373973">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=373973" target="_blank" href="/omim/600193">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/373973" ref="tree=GTR&ncbi_uid=373973&link_uid=373973" title="View MedGen record for 'Waardenburg syndrome type 2B'">Waardenburg syndrome type 2B</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1847722[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=335755">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=335755" target="_blank" href="/omim/606662">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/335755" ref="tree=GTR&ncbi_uid=335755&link_uid=335755" title="View MedGen record for 'Waardenburg syndrome type 2C'">Waardenburg syndrome type 2C</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1837203[DISCUI]&test_type=Clinical" ref="ncbi_uid=323102">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=323102" ref="ncbi_uid=323102">V</a></span></span><span class="TLline"><a href="/medgen/323102" ref="tree=GTR&ncbi_uid=323102&link_uid=323102" title="View MedGen record for 'Waardenburg syndrome type 2D'">Waardenburg syndrome type 2D</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2700405[DISCUI]&test_type=Clinical" ref="ncbi_uid=398476">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=398476" target="_blank" href="/omim/611584">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=398476" ref="ncbi_uid=398476">V</a></span></span><span class="TLline">Waardenburg syndrome type 2E</span><ul><li class="TLclosed"><span class="TLline"><a href="/medgen/432988" ref="tree=GTR&ncbi_uid=432988&link_uid=432988" title="View MedGen record for 'Waardenburg syndrome type 2E, with neurologic involvement'">Waardenburg syndrome type 2E, with neurologic involvement</a></span></li><li class="TLclosed"><span class="TLline"><a href="/medgen/432987" ref="tree=GTR&ncbi_uid=432987&link_uid=432987" title="View MedGen record for 'Waardenburg syndrome type 2E, without neurologic involvement'">Waardenburg syndrome type 2E, without neurologic involvement</a></span></li></ul></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0079661[DISCUI]&test_type=Clinical" ref="ncbi_uid=86948">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=86948" target="_blank" href="/omim/148820">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=86948" ref="ncbi_uid=86948">V</a></span></span><span class="TLline"><a href="/medgen/86948" ref="tree=GTR&ncbi_uid=86948&link_uid=86948" title="View MedGen record for 'Waardenburg syndrome type 3'">Waardenburg syndrome type 3</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1848519[DISCUI]&test_type=Clinical" ref="ncbi_uid=341244">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C1848519[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=341244">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=341244" target="_blank" href="/omim/131244">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=341244" ref="ncbi_uid=341244">V</a></span></span><span class="TLline"><a href="/medgen/341244" ref="tree=GTR&ncbi_uid=341244&link_uid=341244" title="View MedGen record for 'Waardenburg syndrome type 4A'">Waardenburg syndrome type 4A</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2750457[DISCUI]&test_type=Clinical" ref="ncbi_uid=412961">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C2750457[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=412961">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=412961" target="_blank" href="/omim/131242">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=412961" ref="ncbi_uid=412961">V</a></span></span><span class="TLline"><a href="/medgen/412961" ref="tree=GTR&ncbi_uid=412961&link_uid=412961" title="View MedGen record for 'Waardenburg syndrome type 4B'">Waardenburg syndrome type 4B</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2750452[DISCUI]&test_type=Clinical" ref="ncbi_uid=413310">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C2750452[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=413310">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=413310" target="_blank" href="/omim/602229">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=413310" ref="ncbi_uid=413310">V</a></span></span><span class="TLline"><a href="/medgen/413310" ref="tree=GTR&ncbi_uid=413310&link_uid=413310" title="View MedGen record for 'Waardenburg syndrome type 4C'">Waardenburg syndrome type 4C</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/65923" ref="tree=MeSH" title="MedGen record for Hereditary hearing loss and deafness">Hereditary hearing loss and deafness</a></span><ul><li><span class="TLline"><a href="/medgen/398443" ref="tree=MeSH" title="MedGen record for Waardenburg syndrome type 2">Waardenburg syndrome type 2</a></span><ul><li><span class="matched_ds">Waardenburg syndrome type 2E</span><ul><li><span class="TLline"><a href="/medgen/432988" ref="tree=MeSH" title="MedGen record for Waardenburg syndrome type 2E, with neurologic involvement">Waardenburg syndrome type 2E, with neurologic involvement</a></span></li><li><span class="TLline"><a href="/medgen/432987" ref="tree=MeSH" title="MedGen record for Waardenburg syndrome type 2E, without neurologic involvement">Waardenburg syndrome type 2E, without neurologic involvement</a></span></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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</div>
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<div class="portlet mgSection" id="ID_105">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
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<div class="nl"><a target="_blank" href="/pubmed/27759048">Molecular etiology and genotype-phenotype correlation of Chinese Han deaf patients with type I and type II Waardenburg Syndrome.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Sun L,
|
||
Li X,
|
||
Shi J,
|
||
Pang X,
|
||
Hu Y,
|
||
Wang X,
|
||
Wu H,
|
||
Yang T</span><br />
|
||
<span class="medgenPMjournal">Sci Rep</span>
|
||
2016 Oct 19;6:35498.
|
||
doi: 10.1038/srep35498.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27759048" target="_blank">27759048</a><a href="/pmc/articles/PMC5069774" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/25817900">Genetic counseling for a three-generation Chinese family with Waardenburg syndrome type II associated with a rare SOX10 mutation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen K,
|
||
Zong L,
|
||
Zhan Y,
|
||
Wu X,
|
||
Liu M,
|
||
Jiang H</span><br />
|
||
<span class="medgenPMjournal">Int J Pediatr Otorhinolaryngol</span>
|
||
2015 May;79(5):745-8.
|
||
Epub 2015 Mar 17
|
||
doi: 10.1016/j.ijporl.2015.03.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25817900" target="_blank">25817900</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(waardenburg%20syndrome%20type%202e)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (2)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34667088">SOX10: 20 years of phenotypic plurality and current understanding of its developmental function.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pingault V,
|
||
Zerad L,
|
||
Bertani-Torres W,
|
||
Bondurand N</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2022 Feb;59(2):105-114.
|
||
Epub 2021 Oct 19
|
||
doi: 10.1136/jmedgenet-2021-108105.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34667088" target="_blank">34667088</a><a href="/pmc/articles/PMC8788258" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25817900">Genetic counseling for a three-generation Chinese family with Waardenburg syndrome type II associated with a rare SOX10 mutation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen K,
|
||
Zong L,
|
||
Zhan Y,
|
||
Wu X,
|
||
Liu M,
|
||
Jiang H</span><br />
|
||
<span class="medgenPMjournal">Int J Pediatr Otorhinolaryngol</span>
|
||
2015 May;79(5):745-8.
|
||
Epub 2015 Mar 17
|
||
doi: 10.1016/j.ijporl.2015.03.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25817900" target="_blank">25817900</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24735604">De novo dominant mutation of SOX10 gene in a Chinese family with Waardenburg syndrome type II.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen K,
|
||
Zong L,
|
||
Liu M,
|
||
Zhan Y,
|
||
Wu X,
|
||
Zou W,
|
||
Jiang H</span><br />
|
||
<span class="medgenPMjournal">Int J Pediatr Otorhinolaryngol</span>
|
||
2014 Jun;78(6):926-9.
|
||
Epub 2014 Mar 27
|
||
doi: 10.1016/j.ijporl.2014.03.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24735604" target="_blank">24735604</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23237859">Spectrum of temporal bone abnormalities in patients with Waardenburg syndrome and SOX10 mutations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Elmaleh-Bergès M,
|
||
Baumann C,
|
||
Noël-Pétroff N,
|
||
Sekkal A,
|
||
Couloigner V,
|
||
Devriendt K,
|
||
Wilson M,
|
||
Marlin S,
|
||
Sebag G,
|
||
Pingault V</span><br />
|
||
<span class="medgenPMjournal">AJNR Am J Neuroradiol</span>
|
||
2013 Jun-Jul;34(6):1257-63.
|
||
Epub 2012 Dec 13
|
||
doi: 10.3174/ajnr.A3367.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23237859" target="_blank">23237859</a><a href="/pmc/articles/PMC7964579" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7951321">A gene for Waardenburg syndrome type 2 maps close to the human homologue of the microphthalmia gene at chromosome 3p12-p14.1.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hughes AE,
|
||
Newton VE,
|
||
Liu XZ,
|
||
Read AP</span><br />
|
||
<span class="medgenPMjournal">Nat Genet</span>
|
||
1994 Aug;7(4):509-12.
|
||
doi: 10.1038/ng0894-509.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7951321" target="_blank">7951321</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Waardenburg%20syndrome%20type%202E%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 (9)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34667088">SOX10: 20 years of phenotypic plurality and current understanding of its developmental function.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pingault V,
|
||
Zerad L,
|
||
Bertani-Torres W,
|
||
Bondurand N</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2022 Feb;59(2):105-114.
|
||
Epub 2021 Oct 19
|
||
doi: 10.1136/jmedgenet-2021-108105.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34667088" target="_blank">34667088</a><a href="/pmc/articles/PMC8788258" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32421428">Visual Dermatology: Waardenburg Syndrome Type II.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sil A,
|
||
Panigrahi A</span><br />
|
||
<span class="medgenPMjournal">J Cutan Med Surg</span>
|
||
2020 May/Jun;24(3):305.
|
||
doi: 10.1177/1203475420902048.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32421428" target="_blank">32421428</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30988093">Teaching NeuroImages: Waardenburg syndrome type 2.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rosa Júnior M,
|
||
Santana LM,
|
||
Ramos BF,
|
||
Ramos HF</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2019 Apr 16;92(16):e1935-e1936.
|
||
doi: 10.1212/WNL.0000000000007318.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30988093" target="_blank">30988093</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28236341">EDNRB mutations cause Waardenburg syndrome type II in the heterozygous state.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Issa S,
|
||
Bondurand N,
|
||
Faubert E,
|
||
Poisson S,
|
||
Lecerf L,
|
||
Nitschke P,
|
||
Deggouj N,
|
||
Loundon N,
|
||
Jonard L,
|
||
David A,
|
||
Sznajer Y,
|
||
Blanchet P,
|
||
Marlin S,
|
||
Pingault V</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
2017 May;38(5):581-593.
|
||
Epub 2017 Mar 15
|
||
doi: 10.1002/humu.23206.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28236341" target="_blank">28236341</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26781036">Clinical and genetic investigation of families with type II Waardenburg syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen Y,
|
||
Yang F,
|
||
Zheng H,
|
||
Zhou J,
|
||
Zhu G,
|
||
Hu P,
|
||
Wu W</span><br />
|
||
<span class="medgenPMjournal">Mol Med Rep</span>
|
||
2016 Mar;13(3):1983-8.
|
||
Epub 2016 Jan 13
|
||
doi: 10.3892/mmr.2016.4774.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26781036" target="_blank">26781036</a><a href="/pmc/articles/PMC4768954" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Waardenburg%20syndrome%20type%202E%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 (34)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/30113773">Biallelic deletions of the Waardenburg II syndrome gene, SOX10, cause a recognizable arthrogryposis syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stevenson RE,
|
||
Vincent V,
|
||
Spellicy CJ,
|
||
Friez MJ,
|
||
Chaubey A</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2018 Sep;176(9):1968-1971.
|
||
Epub 2018 Aug 16
|
||
doi: 10.1002/ajmg.a.40362.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30113773" target="_blank">30113773</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Waardenburg%20syndrome%20type%202E%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 (1)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38642155">A novel SOX10 mutation causing Waardenburg syndrome type 2 by expressing a truncated and dysfunctional protein in a Chinese child.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li Z,
|
||
Xu K,
|
||
Zhou Z,
|
||
Liang C,
|
||
Gu W,
|
||
Ran J</span><br />
|
||
<span class="medgenPMjournal">Mol Biol Rep</span>
|
||
2024 Apr 20;51(1):536.
|
||
doi: 10.1007/s11033-024-09469-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38642155" target="_blank">38642155</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33597923">Kallmann Syndrome Due to Heterozygous Mutation in SOX10 Coexisting With Waardenburg Syndrome Type II: Case Report and Review of Literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen K,
|
||
Wang H,
|
||
Lai Y</span><br />
|
||
<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
|
||
2020;11:592831.
|
||
Epub 2021 Feb 1
|
||
doi: 10.3389/fendo.2020.592831.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33597923" target="_blank">33597923</a><a href="/pmc/articles/PMC7883637" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31960627">Identification of six novel variants in Waardenburg syndrome type II by next-generation sequencing.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ren S,
|
||
Chen X,
|
||
Kong X,
|
||
Chen Y,
|
||
Wu Q,
|
||
Jiao Z,
|
||
Shi H</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Genomic Med</span>
|
||
2020 Mar;8(3):e1128.
|
||
Epub 2020 Jan 20
|
||
doi: 10.1002/mgg3.1128.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31960627" target="_blank">31960627</a><a href="/pmc/articles/PMC7057110" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26429191">Waardenburg syndrome type 2: an orthodontic perspective.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Şuhani RD,
|
||
Şuhani MF,
|
||
Muntean A,
|
||
Mesaroş MF,
|
||
Badea ME</span><br />
|
||
<span class="medgenPMjournal">Rom J Morphol Embryol</span>
|
||
2015;56(2 Suppl):879-83.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26429191" target="_blank">26429191</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8880147">A novel mutation in the MITF gene causes Waardenburg syndrome type 2.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lautenschlager NT,
|
||
Milunsky A,
|
||
DeStefano A,
|
||
Farrer L,
|
||
Baldwin CT</span><br />
|
||
<span class="medgenPMjournal">Genet Anal</span>
|
||
1996 Jul;13(2):43-4.
|
||
doi: 10.1016/1050-3862(95)00148-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8880147" target="_blank">8880147</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Waardenburg%20syndrome%20type%202E%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 (10)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36588115">A unique hyperdynamic dimer interface permits small molecule perturbation of the melanoma oncoprotein MITF for melanoma therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liu Z,
|
||
Chen K,
|
||
Dai J,
|
||
Xu P,
|
||
Sun W,
|
||
Liu W,
|
||
Zhao Z,
|
||
Bennett SP,
|
||
Li P,
|
||
Ma T,
|
||
Lin Y,
|
||
Kawakami A,
|
||
Yu J,
|
||
Wang F,
|
||
Wang C,
|
||
Li M,
|
||
Chase P,
|
||
Hodder P,
|
||
Spicer TP,
|
||
Scampavia L,
|
||
Cao C,
|
||
Pan L,
|
||
Dong J,
|
||
Chen Y,
|
||
Yu B,
|
||
Guo M,
|
||
Fang P,
|
||
Fisher DE,
|
||
Wang J</span><br />
|
||
<span class="medgenPMjournal">Cell Res</span>
|
||
2023 Jan;33(1):55-70.
|
||
Epub 2023 Jan 2
|
||
doi: 10.1038/s41422-022-00744-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36588115" target="_blank">36588115</a><a href="/pmc/articles/PMC9810709" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34667088">SOX10: 20 years of phenotypic plurality and current understanding of its developmental function.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pingault V,
|
||
Zerad L,
|
||
Bertani-Torres W,
|
||
Bondurand N</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2022 Feb;59(2):105-114.
|
||
Epub 2021 Oct 19
|
||
doi: 10.1136/jmedgenet-2021-108105.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34667088" target="_blank">34667088</a><a href="/pmc/articles/PMC8788258" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31960627">Identification of six novel variants in Waardenburg syndrome type II by next-generation sequencing.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ren S,
|
||
Chen X,
|
||
Kong X,
|
||
Chen Y,
|
||
Wu Q,
|
||
Jiao Z,
|
||
Shi H</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Genomic Med</span>
|
||
2020 Mar;8(3):e1128.
|
||
Epub 2020 Jan 20
|
||
doi: 10.1002/mgg3.1128.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31960627" target="_blank">31960627</a><a href="/pmc/articles/PMC7057110" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24194866">Genetic and phenotypic heterogeneity in Chinese patients with Waardenburg syndrome type II.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yang S,
|
||
Dai P,
|
||
Liu X,
|
||
Kang D,
|
||
Zhang X,
|
||
Yang W,
|
||
Zhou C,
|
||
Yang S,
|
||
Yuan H</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2013;8(10):e77149.
|
||
Epub 2013 Oct 23
|
||
doi: 10.1371/journal.pone.0077149.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24194866" target="_blank">24194866</a><a href="/pmc/articles/PMC3806753" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8880147">A novel mutation in the MITF gene causes Waardenburg syndrome type 2.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lautenschlager NT,
|
||
Milunsky A,
|
||
DeStefano A,
|
||
Farrer L,
|
||
Baldwin CT</span><br />
|
||
<span class="medgenPMjournal">Genet Anal</span>
|
||
1996 Jul;13(2):43-4.
|
||
doi: 10.1016/1050-3862(95)00148-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8880147" target="_blank">8880147</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Waardenburg%20syndrome%20type%202E%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 (20)</a></div></div>
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C2700405%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (40)</a></li>
|
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<li><a href="/gtr/tests?term=C2700405%5bDISCUI%5d&filter=method%3A2%5F29" target="_blank">Detection of homozygosity (2)</a></li>
|
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<li><a href="/gtr/tests?term=C2700405%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
|
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<li><a href="/gtr/tests?term=C2700405%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (47)</a></li>
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<li><a href="/gtr/tests?term=C2700405%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (11)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C2700405%5bDISCUI%5d" target="_blank">See all (54)</a></total></li>
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