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<meta name="keywords" content="C3279941, autosomal recessive stickler syndrome caused by mutation in col9a1, col9a1, col9a1 autosomal recessive stickler syndrome, col9a1-related stickler syndrome, disease or syndrome, stickler syndrome, type 4, stickler syndrome, type iv, stl4, 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="Stickler syndrome is a connective tissue disorder that can include ocular findings of myopia, cataract, and retinal detachment; hearing loss that is both conductive and sensorineural; midfacial underdevelopment and cleft palate (either alone or as part of the Pierre Robin sequence); and early-onset degenerative joint disease. Variable phenotypic expression of Stickler syndrome occurs both within and among families; interfamilial variability is in part explained by locus and allelic heterogeneity." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=481571
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ConceptID=C3279941
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Stickler syndrome, type 4<span class="h1sub">(STL4)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>481571</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.">C3279941</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>COL9A1-Related Stickler Syndrome; STL4</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="COL9A1 - ID: 1297 - NCBI Gene" href="/gene/1297" class="medgenPMinfo">COL9A1</a> (6q13)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0013590" target="_blank">MONDO:0013590</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/614134" target="_blank">614134</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_101">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK1302" target="_blank">Stickler Syndrome</a></div><div>Stickler syndrome is a connective tissue disorder that can include ocular findings of myopia, cataract, and retinal detachment; hearing loss that is both conductive and sensorineural; midfacial underdevelopment and cleft palate (either alone or as part of the Pierre Robin sequence); and early-onset degenerative joint disease. Variable phenotypic expression of Stickler syndrome occurs both within and among families; interfamilial variability is in part explained by locus and allelic heterogeneity. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK1302#stickler.Summary" target="NBK1302">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1302#stickler.Diagnosis" target="NBK1302">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1302#stickler.Clinical_Characteristics" target="NBK1302">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1302#stickler.Genetically_Related_Allelic_Dis" target="NBK1302">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1302#stickler.Differential_Diagnosis" target="NBK1302">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1302#stickler.Management" target="NBK1302">Management</a> | <a class="medgenPMinfo" href="/books/NBK1302#stickler.Genetic_Counseling" target="NBK1302">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1302#stickler.Resources" target="NBK1302">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1302#stickler.Molecular_Genetics" target="NBK1302">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1302#stickler.Chapter_Notes" target="NBK1302">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1302#stickler.References" target="NBK1302">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Geert Mortier <a href="/books/NBK1302" target="NBK1302" title="NCBI Bookshelf: Stickler Syndrome">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<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 />Researchers have described several types of Stickler syndrome, which are distinguished by their genetic causes, features, and patterns of inheritance. In particular, the eye abnormalities and severity of hearing loss vary among the different types. Some types of Stickler syndrome are very rare and have been diagnosed in only a few individuals.<br /><br />Most people with Stickler syndrome have joint abnormalities. Arthritis often develops early in life and may cause joint pain or stiffness. People with severe joint disease may need surgery to replace damaged joints in their 20s or 30s. Affected individuals may also have abnormal curvature of the spine (scoliosis or kyphosis) that causes back pain.<br /><br />Hearing loss is also common in people with Stickler syndrome. In affected individuals, the degree of hearing loss can vary and may worsen over time. People with Stickler syndrome typically have sensorineural hearing loss (caused by changes in the inner ear) with or without conductive hearing loss (caused by changes in the middle ear).<br /><br />Many individuals with Stickler syndrome have severe nearsightedness (high myopia), which means they have trouble seeing things that are far away. In some cases, the clear gel that fills the eyeball (the vitreous) has an abnormal appearance, which is noticeable during an eye examination. Other eye problems are also common in people with Stickler syndrome, including increased pressure within the eye (glaucoma), clouding of the lens of the eyes (cataracts), and tearing of the light-sensitive tissue at the back of the eye (retinal detachment). These eye abnormalities can impair vision and may lead to blindness.<br /><br />A characteristic feature of Stickler syndrome is a flattened facial appearance that results from underdeveloped bones in the middle of the face. A particular group of physical features called Pierre Robin sequence is also common in people with Stickler syndrome. Pierre Robin sequence includes an opening in the roof of the mouth (a cleft palate), a tongue that is placed further back than normal (glossoptosis), and a small lower jaw (micrognathia). This combination of features can lead to feeding problems and difficulty breathing after birth.<br /><br />Stickler syndrome is a group of hereditary conditions that are characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems. These signs and symptoms vary widely among affected individuals, even among members of the same family. <a target="_blank" href="https://medlineplus.gov/genetics/condition/stickler-syndrome">https://medlineplus.gov/genetics/condition/stickler-syndrome</a></div></div>
|
||
</div>
|
||
|
||
<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_42034"><div><strong>Pes planus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42034</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.">C0016202</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/42034">Feature record</a> | <a href="/medgen?term=%22Pes%20planus%22%5BClinical%20Features%5D%20OR%2042034%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_154364"><div><strong>Genu valgum</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>154364</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.">C0576093</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The legs angle inward, such that the knees are close together and the ankles far apart.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/154364">Feature record</a> | <a href="/medgen?term=%22Genu%20valgum%22%5BClinical%20Features%5D%20OR%20154364%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_323064"><div><strong>Short metacarpal</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>323064</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.">C1837084</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/323064">Feature record</a> | <a href="/medgen?term=%22Short%20metacarpal%22%5BClinical%20Features%5D%20OR%20323064%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1790477"><div><strong>Coxa vara</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1790477</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.">C5551440</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1790477">Feature record</a> | <a href="/medgen?term=%22Coxa%20vara%22%5BClinical%20Features%5D%20OR%201790477%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_87607"><div><strong>Short stature</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>87607</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.">C0349588</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/87607">Feature record</a> | <a href="/medgen?term=%22Short%20stature%22%5BClinical%20Features%5D%20OR%2087607%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_11348"><div><strong>Scoliosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11348</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.">C0036439</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of an abnormal lateral curvature of the spine.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/11348">Feature record</a> | <a href="/medgen?term=%22Scoliosis%22%5BClinical%20Features%5D%20OR%2011348%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_78101"><div><strong>Intervertebral space narrowing</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78101</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.">C0263870</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Decreased height of the intervertebral disk.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78101">Feature record</a> | <a href="/medgen?term=%22Intervertebral%20space%20narrowing%22%5BClinical%20Features%5D%20OR%2078101%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_95932"><div><strong>Epiphyseal dysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>95932</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.">C0392476</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/95932">Feature record</a> | <a href="/medgen?term=%22Epiphyseal%20dysplasia%22%5BClinical%20Features%5D%20OR%2095932%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_373033"><div><strong>Short femoral neck</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>373033</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.">C1836184</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally short femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/373033">Feature record</a> | <a href="/medgen?term=%22Short%20femoral%20neck%22%5BClinical%20Features%5D%20OR%20373033%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_334001"><div><strong>Flat capital femoral epiphysis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>334001</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.">C1842155</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal flattening of the proximal epiphysis of the femur.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/334001">Feature record</a> | <a href="/medgen?term=%22Flat%20capital%20femoral%20epiphysis%22%5BClinical%20Features%5D%20OR%20334001%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_335010"><div><strong>Platyspondyly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>335010</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.">C1844704</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A flattened vertebral body shape with reduced distance between the vertebral endplates.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/335010">Feature record</a> | <a href="/medgen?term=%22Platyspondyly%22%5BClinical%20Features%5D%20OR%20335010%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_336793"><div><strong>Joint hypermobility</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336793</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.">C1844820</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/336793">Feature record</a> | <a href="/medgen?term=%22Joint%20hypermobility%22%5BClinical%20Features%5D%20OR%20336793%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_340592"><div><strong>Irregular femoral epiphysis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340592</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.">C1850658</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/340592">Feature record</a> | <a href="/medgen?term=%22Irregular%20femoral%20epiphysis%22%5BClinical%20Features%5D%20OR%20340592%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_351279"><div><strong>Hypoplastic iliac wing</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>351279</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.">C1865027</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Underdevelopment of the ilium ala.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/351279">Feature record</a> | <a href="/medgen?term=%22Hypoplastic%20iliac%20wing%22%5BClinical%20Features%5D%20OR%20351279%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_866530"><div><strong>Irregular capital femoral epiphysis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>866530</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.">C4020825</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Irregular surface of the normally relatively smooth capital femoral epiphysis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/866530">Feature record</a> | <a href="/medgen?term=%22Irregular%20capital%20femoral%20epiphysis%22%5BClinical%20Features%5D%20OR%20866530%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_99115"><div><strong>Hypernasal speech</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>99115</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.">C0454555</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of speech characterized by the presence of an abnormally increased nasal airflow during speech associated with structural abnormality of the nasal passages.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/99115">Feature record</a> | <a href="/medgen?term=%22Hypernasal%20speech%22%5BClinical%20Features%5D%20OR%2099115%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_451009"><div><strong>Hyperplasia of midface</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>451009</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.">C0240309</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally anterior positioning of the infraorbital and perialar regions, or increased convexity of the face, or increased nasolabial angle. The midface includes the maxilla, the cheeks, the zygomas, and the infraorbital and perialar regions of the face</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/451009">Feature record</a> | <a href="/medgen?term=%22Hyperplasia%20of%20midface%22%5BClinical%20Features%5D%20OR%20451009%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_151862"><div><strong>Epicanthus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>151862</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.">C0678230</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Epicanthus is a condition in which a fold of skin stretches from the upper to the lower eyelid, partially covering the inner canthus. Usher (1935) noted that epicanthus is a normal finding in the fetus of all races. Epicanthus also occurs in association with hereditary ptosis (110100).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/151862">Feature record</a> | <a href="/medgen?term=%22Epicanthus%22%5BClinical%20Features%5D%20OR%20151862%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_342829"><div><strong>Flat face</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>342829</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.">C1853241</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Absence of concavity or convexity of the face when viewed in profile.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/342829">Feature record</a> | <a href="/medgen?term=%22Flat%20face%22%5BClinical%20Features%5D%20OR%20342829%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_2473"><div><strong>Astigmatism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2473</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.">C0004106</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Astigmatism (from the Greek 'a' meaning absence and 'stigma' meaning point) is a condition in which the parallel rays of light entering the eye through the refractive media are not focused on a single point. Both corneal and noncorneal factors contribute to refractive astigmatism. Corneal astigmatism is mainly the result of an aspheric anterior surface of the cornea, which can be measured readily by means of a keratometer; in a small fraction of cases (approximately 1 in 10) the effect is neutralized by the back surface. The curvature of the back surface of the cornea is not considered in most studies, because it is more difficult to measure; moreover, in the case of severe corneal astigmatism, there is evidence that both surfaces have the same configuration. Noncorneal factors are errors in the curvature of the 2 surfaces of the crystalline lens, irregularity in the refractive index of the lens, and an eccentric lens position. Since the cornea is the dominant component of the eye's refracting system, a highly astigmatic cornea is likely to result in a similarly astigmatic ocular refraction (summary by Clementi et al., 1998).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/2473">Feature record</a> | <a href="/medgen?term=%22Astigmatism%22%5BClinical%20Features%5D%20OR%202473%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_44558"><div><strong>Myopia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>44558</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.">C0027092</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Nearsightedness, also known as myopia, is an eye condition that causes blurry distance vision. People who are nearsighted have more trouble seeing things that are far away (such as when driving) than things that are close up (such as when reading or using a computer). If it is not treated with corrective lenses or surgery, nearsightedness can lead to squinting, eyestrain, headaches, and significant visual impairment.\n\nNearsightedness usually begins in childhood or adolescence. It tends to worsen with age until adulthood, when it may stop getting worse (stabilize). In some people, nearsightedness improves in later adulthood.\n\nFor normal vision, light passes through the clear cornea at the front of the eye and is focused by the lens onto the surface of the retina, which is the lining of the back of the eye that contains light-sensing cells. People who are nearsighted typically have eyeballs that are too long from front to back. As a result, light entering the eye is focused too far forward, in front of the retina instead of on its surface. It is this change that causes distant objects to appear blurry. The longer the eyeball is, the farther forward light rays will be focused and the more severely nearsighted a person will be.\n\nNearsightedness is measured by how powerful a lens must be to correct it. The standard unit of lens power is called a diopter. Negative (minus) powered lenses are used to correct nearsightedness. The more severe a person's nearsightedness, the larger the number of diopters required for correction. In an individual with nearsightedness, one eye may be more nearsighted than the other.\n\nEye doctors often refer to nearsightedness less than -5 or -6 diopters as "common myopia." Nearsightedness of -6 diopters or more is commonly called "high myopia." This distinction is important because high myopia increases a person's risk of developing other eye problems that can lead to permanent vision loss or blindness. These problems include tearing and detachment of the retina, clouding of the lens (cataract), and an eye disease called glaucoma that is usually related to increased pressure within the eye. The risk of these other eye problems increases with the severity of the nearsightedness. The term "pathological myopia" is used to describe cases in which high myopia leads to tissue damage within the eye.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/44558">Feature record</a> | <a href="/medgen?term=%22Myopia%22%5BClinical%20Features%5D%20OR%2044558%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_39462"><div><strong>Cataract</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>39462</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.">C0086543</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/39462">Feature record</a> | <a href="/medgen?term=%22Cataract%22%5BClinical%20Features%5D%20OR%2039462%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_489829"><div><strong>Rhegmatogenous retinal detachment</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>489829</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.">C0271055</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of retinal detachment associated with a retinal tear, that is, with a break in the retina that allows fluid to pass from the vitreous space into the subretinal space between the sensory retina and the retinal pigment epithelium.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/489829">Feature record</a> | <a href="/medgen?term=%22Rhegmatogenous%20retinal%20detachment%22%5BClinical%20Features%5D%20OR%20489829%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_78759"><div><strong>High myopia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78759</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.">C0271183</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A severe form of myopia with greater than -6.00 diopters.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78759">Feature record</a> | <a href="/medgen?term=%22High%20myopia%22%5BClinical%20Features%5D%20OR%2078759%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_99273"><div><strong>Chorioretinal degeneration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>99273</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.">C0521683</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/99273">Feature record</a> | <a href="/medgen?term=%22Chorioretinal%20degeneration%22%5BClinical%20Features%5D%20OR%2099273%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_334763"><div><strong>Degenerative vitreoretinopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>334763</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.">C1843486</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/334763">Feature record</a> | <a href="/medgen?term=%22Degenerative%20vitreoretinopathy%22%5BClinical%20Features%5D%20OR%20334763%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 head or neck</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_151862" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Epicanthus</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_342829" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Flat face</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_451009" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperplasia of midface</a></span></li></ul></li><li><span class="TLline">Abnormality of limbs</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1790477" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Coxa vara</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_154364" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Genu valgum</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_42034" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pes planus</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_323064" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short metacarpal</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_2473" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Astigmatism</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_39462" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cataract</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_99273" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chorioretinal degeneration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_334763" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Degenerative vitreoretinopathy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_78759" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">High myopia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_44558" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myopia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_489829" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Rhegmatogenous retinal detachment</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_95932" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Epiphyseal dysplasia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_334001" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Flat capital femoral epiphysis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_351279" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypoplastic iliac wing</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_78101" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intervertebral space narrowing</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_866530" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Irregular capital femoral epiphysis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_340592" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Irregular femoral epiphysis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_336793" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Joint hypermobility</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_335010" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Platyspondyly</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_11348" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Scoliosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_373033" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short femoral neck</a></span></li></ul></li><li><span class="TLline">Abnormality of the voice</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_99115" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypernasal speech</a></span></li></ul></li><li><span class="TLline">Ear malformation</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9164" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sensorineural hearing loss disorder</a></span></li></ul></li><li><span class="TLline">Growth abnormality</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_87607" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short stature</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0236038[DISCUI]&test_type=Clinical" ref="ncbi_uid=65923">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1434/" ref="ncbi_uid=65923">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=65923" ref="ncbi_uid=65923">V</a></span></span><span class="TLline"><a href="/medgen/65923" ref="tree=GTR&ncbi_uid=65923&link_uid=65923" title="View MedGen record for 'Hereditary hearing loss and deafness'">Hereditary hearing loss and deafness</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1567741[DISCUI]&test_type=Clinical" ref="ncbi_uid=339209">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=339209" ref="ncbi_uid=339209">V</a></span></span><span class="TLline"><a href="/medgen/339209" ref="tree=GTR&ncbi_uid=339209&link_uid=339209" title="View MedGen record for 'Alport syndrome'">Alport syndrome</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5882663[DISCUI]&test_type=Clinical" ref="ncbi_uid=1848787">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1848787" target="_blank" href="/omim/104200">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1207/" ref="ncbi_uid=1848787">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1848787" ref="ncbi_uid=1848787">V</a></span></span><span class="TLline"><a href="/medgen/1848787" ref="tree=GTR&ncbi_uid=1848787&link_uid=1848787" title="View MedGen record for 'Autosomal dominant Alport syndrome'">Autosomal dominant Alport syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4746745[DISCUI]&test_type=Clinical" ref="ncbi_uid=1648334">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1648334" target="_blank" href="/omim/120131">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1207/" ref="ncbi_uid=1648334">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1648334" ref="ncbi_uid=1648334">V</a></span></span><span class="TLline"><a href="/medgen/1648334" ref="tree=GTR&ncbi_uid=1648334&link_uid=1648334" title="View MedGen record for 'Autosomal recessive Alport syndrome'">Autosomal recessive Alport syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4746986[DISCUI]&test_type=Clinical" ref="ncbi_uid=1648433">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1648433" target="_blank" href="/omim/301050">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1207/" ref="ncbi_uid=1648433">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1648433" ref="ncbi_uid=1648433">V</a></span></span><span class="TLline"><a href="/medgen/1648433" ref="tree=GTR&ncbi_uid=1648433&link_uid=1648433" title="View MedGen record for 'X-linked Alport syndrome'">X-linked Alport syndrome</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0220754[DISCUI]&test_type=Clinical" ref="ncbi_uid=66323">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=66323" target="_blank" href="/omim/253260">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1322/" ref="ncbi_uid=66323">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=66323" ref="ncbi_uid=66323">V</a></span></span><span class="TLline"><a href="/medgen/66323" ref="tree=GTR&ncbi_uid=66323&link_uid=66323" title="View MedGen record for 'Biotinidase deficiency'">Biotinidase deficiency</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=CN043574[DISCUI]&test_type=Clinical" ref="ncbi_uid=432724">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1380/" ref="ncbi_uid=432724">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=432724" ref="ncbi_uid=432724">V</a></span></span><span class="TLline"><a href="/medgen/432724" ref="tree=GTR&ncbi_uid=432724&link_uid=432724" title="View MedGen record for 'Branchiootorenal Spectrum Disorders'">Branchiootorenal Spectrum Disorders</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1842124[DISCUI]&test_type=Clinical" ref="ncbi_uid=333995">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=333995" target="_blank" href="/omim/601205">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1380/" ref="ncbi_uid=333995">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=333995" ref="ncbi_uid=333995">V</a></span></span><span class="TLline"><a href="/medgen/333995" ref="tree=GTR&ncbi_uid=333995&link_uid=333995" title="View MedGen record for 'Branchiootic syndrome 3'">Branchiootic syndrome 3</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4551702[DISCUI]&test_type=Clinical" ref="ncbi_uid=1632634">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1632634" target="_blank" href="/omim/113650">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1380/" ref="ncbi_uid=1632634">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1632634" ref="ncbi_uid=1632634">V</a></span></span><span class="TLline"><a href="/medgen/1632634" ref="tree=GTR&ncbi_uid=1632634&link_uid=1632634" title="View MedGen record for 'Branchiootorenal syndrome 1'">Branchiootorenal syndrome 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1970479[DISCUI]&test_type=Clinical" ref="ncbi_uid=410081">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=410081" target="_blank" href="/omim/600963">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1380/" ref="ncbi_uid=410081">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=410081" ref="ncbi_uid=410081">V</a></span></span><span class="TLline"><a href="/medgen/410081" ref="tree=GTR&ncbi_uid=410081&link_uid=410081" title="View MedGen record for 'Branchiootorenal syndrome 2'">Branchiootorenal syndrome 2</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0796074[DISCUI]&test_type=Clinical" ref="ncbi_uid=162903">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=162903" target="_blank" href="/omim/300356">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1216/" ref="ncbi_uid=162903">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=162903" ref="ncbi_uid=162903">V</a></span></span><span class="TLline"><a href="/medgen/162903" ref="tree=GTR&ncbi_uid=162903&link_uid=162903" title="View MedGen record for 'Deafness dystonia syndrome'">Deafness dystonia syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4551509[DISCUI]&test_type=Clinical" ref="ncbi_uid=1646925">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1646925" target="_blank" href="/omim/220400">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1405/" ref="ncbi_uid=1646925">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1646925" ref="ncbi_uid=1646925">V</a></span></span><span class="TLline"><a href="/medgen/1646925" ref="tree=GTR&ncbi_uid=1646925&link_uid=1646925" title="View MedGen record for 'Jervell and Lange-Nielsen syndrome 1'">Jervell and Lange-Nielsen syndrome 1</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2676723[DISCUI]&test_type=Clinical" ref="ncbi_uid=394108">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=394108" target="_blank" href="/omim/176261">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1405/" ref="ncbi_uid=394108">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=394108" ref="ncbi_uid=394108">V</a></span></span><span class="TLline"><a href="/medgen/394108" ref="tree=GTR&ncbi_uid=394108&link_uid=394108" title="View MedGen record for 'Jervell and Lange-Nielsen syndrome 2'">Jervell and Lange-Nielsen syndrome 2</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4551647[DISCUI]&test_type=Clinical" ref="ncbi_uid=1641146">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1641146" target="_blank" href="/omim/192500">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1129/" ref="ncbi_uid=1641146">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1641146" ref="ncbi_uid=1641146">V</a></span></span><span class="TLline"><a href="/medgen/1641146" ref="tree=GTR&ncbi_uid=1641146&link_uid=1641146" title="View MedGen record for 'Long QT syndrome 1'">Long QT syndrome 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1867904[DISCUI]&test_type=Clinical" ref="ncbi_uid=358092">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=358092" target="_blank" href="/omim/176261">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1129/" ref="ncbi_uid=358092">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=358092" ref="ncbi_uid=358092">V</a></span></span><span class="TLline"><a href="/medgen/358092" ref="tree=GTR&ncbi_uid=358092&link_uid=358092" title="View MedGen record for 'Long QT syndrome 5'">Long QT syndrome 5</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0751651[DISCUI]&test_type=Clinical" ref="ncbi_uid=155901">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1224/" ref="ncbi_uid=155901">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=155901" ref="ncbi_uid=155901">V</a></span></span><span class="TLline"><a href="/medgen/155901" ref="tree=GTR&ncbi_uid=155901&link_uid=155901" title="View MedGen record for 'Mitochondrial disease'">Mitochondrial disease</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0342779[DISCUI]&test_type=Clinical" ref="ncbi_uid=452448">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/452448" ref="tree=GTR&ncbi_uid=452448&link_uid=452448" title="View MedGen record for 'Complex V deficiency'">Complex V deficiency</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3279699[DISCUI]&test_type=Clinical" ref="ncbi_uid=481329">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=481329" target="_blank" href="/omim/612418">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=481329" ref="ncbi_uid=481329">V</a></span></span><span class="TLline"><a href="/medgen/481329" ref="tree=GTR&ncbi_uid=481329&link_uid=481329" title="View MedGen record for 'Mitochondrial complex V (ATP synthase) deficiency nuclear type 2'">Mitochondrial complex V (ATP synthase) deficiency nuclear type 2</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3279708[DISCUI]&test_type=Clinical" ref="ncbi_uid=481338">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=481338" target="_blank" href="/omim/606153">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=481338" ref="ncbi_uid=481338">V</a></span></span><span class="TLline"><a href="/medgen/481338" ref="tree=GTR&ncbi_uid=481338&link_uid=481338" title="View MedGen record for 'Mitochondrial complex V (ATP synthase) deficiency nuclear type 3'">Mitochondrial complex V (ATP synthase) deficiency nuclear type 3</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3276276[DISCUI]&test_type=Clinical" ref="ncbi_uid=477906">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=477906" target="_blank" href="/omim/604273">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=477906" ref="ncbi_uid=477906">V</a></span></span><span class="TLline"><a href="/medgen/477906" ref="tree=GTR&ncbi_uid=477906&link_uid=477906" title="View MedGen record for 'Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1'">Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2931891[DISCUI]&test_type=Clinical" ref="ncbi_uid=419518">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=419518" target="_blank" href="/omim/256000">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1173%20OR%20NBK1203%20OR%20NBK1224%20OR%20NBK320989)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=419518">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=419518" ref="ncbi_uid=419518">V</a></span></span><span class="TLline"><a href="/medgen/419518" ref="tree=GTR&ncbi_uid=419518&link_uid=419518" title="View MedGen record for 'Leigh syndrome'">Leigh syndrome</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1857355[DISCUI]&test_type=Clinical" ref="ncbi_uid=387801">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=387801" target="_blank" href="/omim/220111">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=387801" ref="ncbi_uid=387801">V</a></span></span><span class="TLline"><a href="/medgen/387801" ref="tree=GTR&ncbi_uid=387801&link_uid=387801" title="View MedGen record for 'Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type'">Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3280112[DISCUI]&test_type=Clinical" ref="ncbi_uid=481742">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=481742" target="_blank" href="/omim/603967">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1168/" ref="ncbi_uid=481742">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=481742" ref="ncbi_uid=481742">V</a></span></span><span class="TLline"><a href="/medgen/481742" ref="tree=GTR&ncbi_uid=481742&link_uid=481742" title="View MedGen record for 'Congenital myasthenic syndrome 16'">Congenital myasthenic syndrome 16</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=CN043625[DISCUI]&test_type=Clinical" ref="ncbi_uid=432733">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK320989/" ref="ncbi_uid=432733">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/432733" ref="tree=GTR&ncbi_uid=432733&link_uid=432733" title="View MedGen record for 'Leigh Syndrome (nuclear DNA mutation)'">Leigh Syndrome (nuclear DNA mutation)</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1838951[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=333220">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=333220" target="_blank" href="/omim/516001">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=333220" ref="ncbi_uid=333220">V</a></span></span><span class="TLline"><a href="/medgen/333220" ref="tree=GTR&ncbi_uid=333220&link_uid=333220" title="View MedGen record for 'Leigh syndrome due to mitochondrial complex I deficiency'">Leigh syndrome due to mitochondrial complex I deficiency</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/342542" ref="tree=GTR&ncbi_uid=342542&link_uid=342542" title="View MedGen record for 'Leigh syndrome due to mitochondrial complex II deficiency'">Leigh syndrome due to mitochondrial complex II deficiency</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1850598[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=376834">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/376834" ref="tree=GTR&ncbi_uid=376834&link_uid=376834" title="View MedGen record for 'Leigh syndrome due to mitochondrial complex III deficiency'">Leigh syndrome due to mitochondrial complex III deficiency</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/376835" ref="tree=GTR&ncbi_uid=376835&link_uid=376835" title="View MedGen record for 'Leigh syndrome due to mitochondrial complex V deficiency'">Leigh syndrome due to mitochondrial complex V deficiency</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=443976" target="_blank" href="/omim/500017">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/443976" ref="tree=GTR&ncbi_uid=443976&link_uid=443976" title="View MedGen record for 'Maternally-inherited Leigh syndrome'">Maternally-inherited Leigh syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=331718" target="_blank" href="/omim/161700">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1173/" ref="ncbi_uid=331718">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/331718" ref="tree=GTR&ncbi_uid=331718&link_uid=331718" title="View MedGen record for 'Necrotizing encephalomyelopathy, subacute, of Leigh, adult'">Necrotizing encephalomyelopathy, subacute, of Leigh, adult</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0034341[DISCUI]&test_type=Clinical" ref="ncbi_uid=18801">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=18801" target="_blank" href="/omim/266150">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK6852/" ref="ncbi_uid=18801">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=18801" ref="ncbi_uid=18801">V</a></span></span><span class="TLline"><a href="/medgen/18801" ref="tree=GTR&ncbi_uid=18801&link_uid=18801" title="View MedGen record for 'Pyruvate carboxylase deficiency'">Pyruvate carboxylase deficiency</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0034345[DISCUI]&test_type=Clinical" ref="ncbi_uid=19610">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=19610" target="_blank" href="/omim/312170">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK571223/" ref="ncbi_uid=19610">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=19610" ref="ncbi_uid=19610">V</a></span></span><span class="TLline"><a href="/medgen/19610" ref="tree=GTR&ncbi_uid=19610&link_uid=19610" title="View MedGen record for 'Pyruvate dehydrogenase complex deficiency'">Pyruvate dehydrogenase complex deficiency</a></span></li></ul></li><li class="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="matched_ds"><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">Stickler syndrome, type 4</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3280342[DISCUI]&test_type=Clinical" ref="ncbi_uid=481972">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=481972" target="_blank" href="/omim/614284">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1302/" ref="ncbi_uid=481972">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=481972" ref="ncbi_uid=481972">V</a></span></span><span class="TLline"><a href="/medgen/481972" ref="tree=GTR&ncbi_uid=481972&link_uid=481972" title="View MedGen record for 'Stickler syndrome, type 5'">Stickler syndrome, type 5</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5774207[DISCUI]&test_type=Clinical" ref="ncbi_uid=1823980">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1823980" target="_blank" href="/omim/120270">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1823980" ref="ncbi_uid=1823980">V</a></span></span><span class="TLline"><a href="/medgen/1823980" ref="tree=GTR&ncbi_uid=1823980&link_uid=1823980" title="View MedGen record for 'Stickler syndrome, type 6'">Stickler syndrome, type 6</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1836080[DISCUI]&test_type=Clinical" ref="ncbi_uid=322820">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=322820" target="_blank" href="/omim/120140">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=322820" ref="ncbi_uid=322820">V</a></span></span><span class="TLline"><a href="/medgen/322820" ref="tree=GTR&ncbi_uid=322820&link_uid=322820" title="View MedGen record for 'Stickler syndrome, type I, nonsyndromic ocular'">Stickler syndrome, type I, nonsyndromic ocular</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0271097[DISCUI]&test_type=Clinical" ref="ncbi_uid=78754">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=78754" target="_blank" href="/omim/590085">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=78754" ref="ncbi_uid=78754">V</a></span></span><span class="TLline"><a href="/medgen/78754" ref="tree=GTR&ncbi_uid=78754&link_uid=78754" title="View MedGen record for 'Usher syndrome'">Usher syndrome</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1568247[DISCUI]&test_type=Clinical" ref="ncbi_uid=292820">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=292820" target="_blank" href="/omim/276900">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1265/" ref="ncbi_uid=292820">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=292820" ref="ncbi_uid=292820">V</a></span></span><span class="TLline"><a href="/medgen/292820" ref="tree=GTR&ncbi_uid=292820&link_uid=292820" title="View MedGen record for 'Usher syndrome type 1'">Usher syndrome type 1</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2931206[DISCUI]&test_type=Clinical" ref="ncbi_uid=419358">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=419358" ref="ncbi_uid=419358">V</a></span></span><span class="TLline"><a href="/medgen/419358" ref="tree=GTR&ncbi_uid=419358&link_uid=419358" title="View MedGen record for 'Usher syndrome type 1B'">Usher syndrome type 1B</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1848604[DISCUI]&test_type=Clinical" ref="ncbi_uid=338506">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=338506" target="_blank" href="/omim/276904">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1265/" ref="ncbi_uid=338506">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=338506" ref="ncbi_uid=338506">V</a></span></span><span class="TLline"><a href="/medgen/338506" ref="tree=GTR&ncbi_uid=338506&link_uid=338506" title="View MedGen record for 'Usher syndrome type 1C'">Usher syndrome type 1C</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1832845[DISCUI]&test_type=Clinical" ref="ncbi_uid=322051">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=322051" target="_blank" href="/omim/601067">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1265/" ref="ncbi_uid=322051">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=322051" ref="ncbi_uid=322051">V</a></span></span><span class="TLline"><a href="/medgen/322051" ref="tree=GTR&ncbi_uid=322051&link_uid=322051" title="View MedGen record for 'Usher syndrome type 1D'">Usher syndrome type 1D</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1865865[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=400865">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=400865" target="_blank" href="/omim/602097">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1265/" ref="ncbi_uid=400865">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/400865" ref="tree=GTR&ncbi_uid=400865&link_uid=400865" title="View MedGen record for 'Usher syndrome type 1E'">Usher syndrome type 1E</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1865885[DISCUI]&test_type=Clinical" ref="ncbi_uid=356393">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=356393" target="_blank" href="/omim/602083">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1265/" ref="ncbi_uid=356393">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=356393" ref="ncbi_uid=356393">V</a></span></span><span class="TLline"><a href="/medgen/356393" ref="tree=GTR&ncbi_uid=356393&link_uid=356393" title="View MedGen record for 'Usher syndrome type 1F'">Usher syndrome type 1F</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1847089[DISCUI]&test_type=Clinical" ref="ncbi_uid=339683">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=339683" target="_blank" href="/omim/606943">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1265/" ref="ncbi_uid=339683">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=339683" ref="ncbi_uid=339683">V</a></span></span><span class="TLline"><a href="/medgen/339683" ref="tree=GTR&ncbi_uid=339683&link_uid=339683" title="View MedGen record for 'Usher syndrome type 1G'">Usher syndrome type 1G</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2675458[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=393392">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=393392" target="_blank" href="/omim/612632">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1265/" ref="ncbi_uid=393392">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/393392" ref="tree=GTR&ncbi_uid=393392&link_uid=393392" title="View MedGen record for 'Usher syndrome type 1H'">Usher syndrome type 1H</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0339534[DISCUI]&test_type=Clinical" ref="ncbi_uid=83288">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1341/" ref="ncbi_uid=83288">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=83288" ref="ncbi_uid=83288">V</a></span></span><span class="TLline"><a href="/medgen/83288" ref="tree=GTR&ncbi_uid=83288&link_uid=83288" title="View MedGen record for 'Usher syndrome type 2'">Usher syndrome type 2</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1568248[DISCUI]&test_type=Clinical" ref="ncbi_uid=339336">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=339336" ref="ncbi_uid=339336">V</a></span></span><span class="TLline"><a href="/medgen/339336" ref="tree=GTR&ncbi_uid=339336&link_uid=339336" title="View MedGen record for 'Usher syndrome type 3'">Usher syndrome type 3</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5779850[DISCUI]&test_type=Clinical" ref="ncbi_uid=1830415">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1830415" target="_blank" href="/omim/276902">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1830415" ref="ncbi_uid=1830415">V</a></span></span><span class="TLline"><a href="/medgen/1830415" ref="tree=GTR&ncbi_uid=1830415&link_uid=1830415" title="View MedGen record for 'Usher syndrome type 3A'">Usher syndrome type 3A</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3281066[DISCUI]&test_type=Clinical" ref="ncbi_uid=482696">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=482696" target="_blank" href="/omim/142810">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=482696" ref="ncbi_uid=482696">V</a></span></span><span class="TLline"><a href="/medgen/482696" ref="tree=GTR&ncbi_uid=482696&link_uid=482696" title="View MedGen record for 'Usher syndrome type 3B'">Usher syndrome type 3B</a></span></li></ul></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1847800[DISCUI]&test_type=Clinical" ref="ncbi_uid=376211">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=376211" target="_blank" href="/omim/193500">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1531/" ref="ncbi_uid=376211">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=376211" ref="ncbi_uid=376211">V</a></span></span><span class="TLline"><a href="/medgen/376211" ref="tree=GTR&ncbi_uid=376211&link_uid=376211" title="View MedGen record for 'Waardenburg syndrome type 1'">Waardenburg syndrome type 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2700265[DISCUI]&test_type=Clinical" ref="ncbi_uid=398443">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=398443" ref="ncbi_uid=398443">V</a></span></span><span class="TLline"><a href="/medgen/398443" ref="tree=GTR&ncbi_uid=398443&link_uid=398443" title="View MedGen record for 'Waardenburg syndrome type 2'">Waardenburg syndrome type 2</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1860339[DISCUI]&test_type=Clinical" ref="ncbi_uid=349786">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=349786" target="_blank" href="/omim/156845">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=349786" ref="ncbi_uid=349786">V</a></span></span><span class="TLline"><a href="/medgen/349786" ref="tree=GTR&ncbi_uid=349786&link_uid=349786" title="View MedGen record for 'Waardenburg syndrome type 2A'">Waardenburg syndrome type 2A</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1838447[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=373973">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=373973" target="_blank" href="/omim/600193">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/373973" ref="tree=GTR&ncbi_uid=373973&link_uid=373973" title="View MedGen record for 'Waardenburg syndrome type 2B'">Waardenburg syndrome type 2B</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1847722[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=335755">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=335755" target="_blank" href="/omim/606662">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/335755" ref="tree=GTR&ncbi_uid=335755&link_uid=335755" title="View MedGen record for 'Waardenburg syndrome type 2C'">Waardenburg syndrome type 2C</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1837203[DISCUI]&test_type=Clinical" ref="ncbi_uid=323102">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=323102" ref="ncbi_uid=323102">V</a></span></span><span class="TLline"><a href="/medgen/323102" ref="tree=GTR&ncbi_uid=323102&link_uid=323102" title="View MedGen record for 'Waardenburg syndrome type 2D'">Waardenburg syndrome type 2D</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2700405[DISCUI]&test_type=Clinical" ref="ncbi_uid=398476">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=398476" target="_blank" href="/omim/611584">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=398476" ref="ncbi_uid=398476">V</a></span></span><span class="TLline"><a href="/medgen/398476" ref="tree=GTR&ncbi_uid=398476&link_uid=398476" title="View MedGen record for 'Waardenburg syndrome type 2E'">Waardenburg syndrome type 2E</a></span><ul><li class="TLclosed"><span class="TLline"><a href="/medgen/432988" ref="tree=GTR&ncbi_uid=432988&link_uid=432988" title="View MedGen record for 'Waardenburg syndrome type 2E, with neurologic involvement'">Waardenburg syndrome type 2E, with neurologic involvement</a></span></li><li class="TLclosed"><span class="TLline"><a href="/medgen/432987" ref="tree=GTR&ncbi_uid=432987&link_uid=432987" title="View MedGen record for 'Waardenburg syndrome type 2E, without neurologic involvement'">Waardenburg syndrome type 2E, without neurologic involvement</a></span></li></ul></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0079661[DISCUI]&test_type=Clinical" ref="ncbi_uid=86948">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=86948" target="_blank" href="/omim/148820">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=86948" ref="ncbi_uid=86948">V</a></span></span><span class="TLline"><a href="/medgen/86948" ref="tree=GTR&ncbi_uid=86948&link_uid=86948" title="View MedGen record for 'Waardenburg syndrome type 3'">Waardenburg syndrome type 3</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1848519[DISCUI]&test_type=Clinical" ref="ncbi_uid=341244">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C1848519[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=341244">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=341244" target="_blank" href="/omim/131244">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=341244" ref="ncbi_uid=341244">V</a></span></span><span class="TLline"><a href="/medgen/341244" ref="tree=GTR&ncbi_uid=341244&link_uid=341244" title="View MedGen record for 'Waardenburg syndrome type 4A'">Waardenburg syndrome type 4A</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2750457[DISCUI]&test_type=Clinical" ref="ncbi_uid=412961">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C2750457[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=412961">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=412961" target="_blank" href="/omim/131242">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=412961" ref="ncbi_uid=412961">V</a></span></span><span class="TLline"><a href="/medgen/412961" ref="tree=GTR&ncbi_uid=412961&link_uid=412961" title="View MedGen record for 'Waardenburg syndrome type 4B'">Waardenburg syndrome type 4B</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2750452[DISCUI]&test_type=Clinical" ref="ncbi_uid=413310">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C2750452[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=413310">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=413310" target="_blank" href="/omim/602229">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=413310" ref="ncbi_uid=413310">V</a></span></span><span class="TLline"><a href="/medgen/413310" ref="tree=GTR&ncbi_uid=413310&link_uid=413310" title="View MedGen record for 'Waardenburg syndrome type 4C'">Waardenburg syndrome type 4C</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/65923" ref="tree=MeSH" title="MedGen record for Hereditary hearing loss and deafness">Hereditary hearing loss and deafness</a></span><ul><li><span class="TLline"><a href="/medgen/120521" ref="tree=MeSH" title="MedGen record for Stickler syndrome">Stickler syndrome</a></span><ul><li><span class="matched_ds">Stickler syndrome, type 4</span></li></ul></li></ul></li></ul></div></div></div></div>
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<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33951325">Genetic testing results of children suspected to have Stickler syndrome type collagenopathy after ocular examination.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Khan AO,
|
||
AlAbdi L,
|
||
Patel N,
|
||
Helaby R,
|
||
Hashem M,
|
||
Abdulwahab F,
|
||
AlBadr FB,
|
||
Alkuraya FS</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Genomic Med</span>
|
||
2021 May;9(5):e1628.
|
||
Epub 2021 May 5
|
||
doi: 10.1002/mgg3.1628.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33951325" target="_blank">33951325</a><a href="/pmc/articles/PMC8172201" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32112773">Analysis of Etiologic Factors in Pediatric Rhegmatogenous Retinal Detachment With Genetic Testing.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen C,
|
||
Huang S,
|
||
Sun L,
|
||
Li S,
|
||
Huang L,
|
||
Wang Z,
|
||
Luo X,
|
||
Ding X</span><br />
|
||
<span class="medgenPMjournal">Am J Ophthalmol</span>
|
||
2020 Oct;218:330-336.
|
||
Epub 2020 Feb 27
|
||
doi: 10.1016/j.ajo.2020.02.015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32112773" target="_blank">32112773</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10706362">Molecular diagnosis of Stickler syndrome: a COL2A1 stop codon mutation screening strategy that is not compromised by mutant mRNA instability.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Freddi S,
|
||
Savarirayan R,
|
||
Bateman JF</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet</span>
|
||
2000 Feb 28;90(5):398-406.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10706362" target="_blank">10706362</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(stickler%20syndrome%2C%20type%204)%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 (4)</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/39406934">Retinal detachment in Type IX collagen recessive Stickler syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maghsoudi D,
|
||
Nixon TR,
|
||
Martin H,
|
||
Richards AJ,
|
||
McNinch AM,
|
||
Alexander P,
|
||
Poulson AV,
|
||
Snead MP</span><br />
|
||
<span class="medgenPMjournal">Eye (Lond)</span>
|
||
2025 Jan;39(1):133-138.
|
||
Epub 2024 Oct 15
|
||
doi: 10.1038/s41433-024-03393-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39406934" target="_blank">39406934</a><a href="/pmc/articles/PMC11733291" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38243264">Clinical and genetic risk factors underlying severe consequence identified in 75 families with unilateral high myopia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jiang Y,
|
||
Xiao X,
|
||
Sun W,
|
||
Wang Y,
|
||
Li S,
|
||
Jia X,
|
||
Wang P,
|
||
Hejtmancik JF,
|
||
Zhang Q</span><br />
|
||
<span class="medgenPMjournal">J Transl Med</span>
|
||
2024 Jan 19;22(1):75.
|
||
doi: 10.1186/s12967-024-04886-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38243264" target="_blank">38243264</a><a href="/pmc/articles/PMC10797748" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36165842">LASER PROPHYLAXIS IN STICKLER SYNDROME: The Manchester Protocol.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Linton E,
|
||
Jalil A,
|
||
Sergouniotis P,
|
||
Moussa G,
|
||
Black G,
|
||
Charles S,
|
||
Ivanova T</span><br />
|
||
<span class="medgenPMjournal">Retina</span>
|
||
2023 Jan 1;43(1):88-93.
|
||
doi: 10.1097/IAE.0000000000003634.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36165842" target="_blank">36165842</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34982001">Risk and Prevention of Retinal Detachments in Patients with Stickler Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Naravane AV,
|
||
Belin PJ,
|
||
Pierce B,
|
||
Quiram PA</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Surg Lasers Imaging Retina</span>
|
||
2022 Jan;53(1):7-11.
|
||
Epub 2022 Jan 1
|
||
doi: 10.3928/23258160-20211213-02.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34982001" target="_blank">34982001</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34774838">Laser Prophylaxis in Patients with Stickler Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Khanna S,
|
||
Rodriguez SH,
|
||
Blair MA,
|
||
Wroblewski K,
|
||
Shapiro MJ,
|
||
Blair MP</span><br />
|
||
<span class="medgenPMjournal">Ophthalmol Retina</span>
|
||
2022 Apr;6(4):263-267.
|
||
Epub 2021 Nov 11
|
||
doi: 10.1016/j.oret.2021.11.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34774838" target="_blank">34774838</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Stickler%20syndrome%2C%20type%204%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 (41)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34982001">Risk and Prevention of Retinal Detachments in Patients with Stickler Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Naravane AV,
|
||
Belin PJ,
|
||
Pierce B,
|
||
Quiram PA</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Surg Lasers Imaging Retina</span>
|
||
2022 Jan;53(1):7-11.
|
||
Epub 2022 Jan 1
|
||
doi: 10.3928/23258160-20211213-02.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34982001" target="_blank">34982001</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32381255">Stickler Syndrome Genotype (COL2A1 mutation) with Retinitis Pigmentosa Phenotype.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Breazzano MP,
|
||
Tsang SH,
|
||
Tezel TH</span><br />
|
||
<span class="medgenPMjournal">Ophthalmol Retina</span>
|
||
2020 May;4(5):522.
|
||
doi: 10.1016/j.oret.2020.01.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32381255" target="_blank">32381255</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32112773">Analysis of Etiologic Factors in Pediatric Rhegmatogenous Retinal Detachment With Genetic Testing.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen C,
|
||
Huang S,
|
||
Sun L,
|
||
Li S,
|
||
Huang L,
|
||
Wang Z,
|
||
Luo X,
|
||
Ding X</span><br />
|
||
<span class="medgenPMjournal">Am J Ophthalmol</span>
|
||
2020 Oct;218:330-336.
|
||
Epub 2020 Feb 27
|
||
doi: 10.1016/j.ajo.2020.02.015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32112773" target="_blank">32112773</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31736238">Next-generation sequencing-aided precise diagnosis of Stickler syndrome type I.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang DD,
|
||
Gao FJ,
|
||
Hu FY,
|
||
Li JK,
|
||
Zhang SH,
|
||
Xu P,
|
||
Chang Q,
|
||
Jiang R,
|
||
Wu JH</span><br />
|
||
<span class="medgenPMjournal">Acta Ophthalmol</span>
|
||
2020 Jun;98(4):e440-e446.
|
||
Epub 2019 Nov 17
|
||
doi: 10.1111/aos.14302.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31736238" target="_blank">31736238</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30245514">Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Booth KT,
|
||
Askew JW,
|
||
Talebizadeh Z,
|
||
Huygen PLM,
|
||
Eudy J,
|
||
Kenyon J,
|
||
Hoover D,
|
||
Hildebrand MS,
|
||
Smith KR,
|
||
Bahlo M,
|
||
Kimberling WJ,
|
||
Smith RJH,
|
||
Azaiez H,
|
||
Smith SD</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2019 Apr;21(4):948-954.
|
||
Epub 2018 Sep 24
|
||
doi: 10.1038/s41436-018-0285-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30245514" target="_blank">30245514</a><a href="/pmc/articles/PMC6431578" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Stickler%20syndrome%2C%20type%204%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 (53)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38358525">Outcomes of rhegmatogenous retinal detachment surgery in patients with Stickler syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Corcóstegui I,
|
||
Subirás J,
|
||
Corcóstegui B</span><br />
|
||
<span class="medgenPMjournal">Graefes Arch Clin Exp Ophthalmol</span>
|
||
2024 Jul;262(7):2093-2099.
|
||
Epub 2024 Feb 15
|
||
doi: 10.1007/s00417-024-06406-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38358525" target="_blank">38358525</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11321134">Pediatric rhegmatogenous retinal detachment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fivgas GD,
|
||
Capone A Jr</span><br />
|
||
<span class="medgenPMjournal">Retina</span>
|
||
2001;21(2):101-6.
|
||
doi: 10.1097/00006982-200104000-00001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11321134" target="_blank">11321134</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Stickler%20syndrome%2C%20type%204%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 (2)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38243264">Clinical and genetic risk factors underlying severe consequence identified in 75 families with unilateral high myopia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jiang Y,
|
||
Xiao X,
|
||
Sun W,
|
||
Wang Y,
|
||
Li S,
|
||
Jia X,
|
||
Wang P,
|
||
Hejtmancik JF,
|
||
Zhang Q</span><br />
|
||
<span class="medgenPMjournal">J Transl Med</span>
|
||
2024 Jan 19;22(1):75.
|
||
doi: 10.1186/s12967-024-04886-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38243264" target="_blank">38243264</a><a href="/pmc/articles/PMC10797748" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35473494">Severe foveal hypoplasia and macular degeneration in Stickler syndrome caused by missense mutation in COL2A1 gene.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Asano M,
|
||
Yokoyama K,
|
||
Oku K,
|
||
Matsushita I,
|
||
Kimoto K,
|
||
Kubota T,
|
||
Kondo H</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Genet</span>
|
||
2022 Aug;43(4):508-512.
|
||
Epub 2022 Apr 26
|
||
doi: 10.1080/13816810.2022.2068044.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35473494" target="_blank">35473494</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31856005">Stickler Syndrome: Airway Complications in a Case Series of 502 Patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zimmermann J,
|
||
Stubbs DJ,
|
||
Richards AJ,
|
||
Alexander P,
|
||
McNinch AM,
|
||
Matta B,
|
||
Snead MP</span><br />
|
||
<span class="medgenPMjournal">Anesth Analg</span>
|
||
2021 Jan;132(1):202-209.
|
||
doi: 10.1213/ANE.0000000000004582.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31856005" target="_blank">31856005</a><a href="/pmc/articles/PMC7717475" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31736238">Next-generation sequencing-aided precise diagnosis of Stickler syndrome type I.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang DD,
|
||
Gao FJ,
|
||
Hu FY,
|
||
Li JK,
|
||
Zhang SH,
|
||
Xu P,
|
||
Chang Q,
|
||
Jiang R,
|
||
Wu JH</span><br />
|
||
<span class="medgenPMjournal">Acta Ophthalmol</span>
|
||
2020 Jun;98(4):e440-e446.
|
||
Epub 2019 Nov 17
|
||
doi: 10.1111/aos.14302.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31736238" target="_blank">31736238</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30245514">Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Booth KT,
|
||
Askew JW,
|
||
Talebizadeh Z,
|
||
Huygen PLM,
|
||
Eudy J,
|
||
Kenyon J,
|
||
Hoover D,
|
||
Hildebrand MS,
|
||
Smith KR,
|
||
Bahlo M,
|
||
Kimberling WJ,
|
||
Smith RJH,
|
||
Azaiez H,
|
||
Smith SD</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2019 Apr;21(4):948-954.
|
||
Epub 2018 Sep 24
|
||
doi: 10.1038/s41436-018-0285-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30245514" target="_blank">30245514</a><a href="/pmc/articles/PMC6431578" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Stickler%20syndrome%2C%20type%204%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 (22)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38243264">Clinical and genetic risk factors underlying severe consequence identified in 75 families with unilateral high myopia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jiang Y,
|
||
Xiao X,
|
||
Sun W,
|
||
Wang Y,
|
||
Li S,
|
||
Jia X,
|
||
Wang P,
|
||
Hejtmancik JF,
|
||
Zhang Q</span><br />
|
||
<span class="medgenPMjournal">J Transl Med</span>
|
||
2024 Jan 19;22(1):75.
|
||
doi: 10.1186/s12967-024-04886-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38243264" target="_blank">38243264</a><a href="/pmc/articles/PMC10797748" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36618001">Window of Susceptibility to Acute Otitis Media Infection.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bajorski P,
|
||
Fuji N,
|
||
Kaur R,
|
||
Pichichero ME</span><br />
|
||
<span class="medgenPMjournal">Pediatrics</span>
|
||
2023 Feb 1;151(2)
|
||
doi: 10.1542/peds.2022-058556.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36618001" target="_blank">36618001</a><a href="/pmc/articles/PMC9890393" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35473494">Severe foveal hypoplasia and macular degeneration in Stickler syndrome caused by missense mutation in COL2A1 gene.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Asano M,
|
||
Yokoyama K,
|
||
Oku K,
|
||
Matsushita I,
|
||
Kimoto K,
|
||
Kubota T,
|
||
Kondo H</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Genet</span>
|
||
2022 Aug;43(4):508-512.
|
||
Epub 2022 Apr 26
|
||
doi: 10.1080/13816810.2022.2068044.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35473494" target="_blank">35473494</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31856005">Stickler Syndrome: Airway Complications in a Case Series of 502 Patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zimmermann J,
|
||
Stubbs DJ,
|
||
Richards AJ,
|
||
Alexander P,
|
||
McNinch AM,
|
||
Matta B,
|
||
Snead MP</span><br />
|
||
<span class="medgenPMjournal">Anesth Analg</span>
|
||
2021 Jan;132(1):202-209.
|
||
doi: 10.1213/ANE.0000000000004582.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31856005" target="_blank">31856005</a><a href="/pmc/articles/PMC7717475" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7867814">Stickler syndrome: correlation between vitreoretinal phenotypes and linkage to COL 2A1.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Snead MP,
|
||
Payne SJ,
|
||
Barton DE,
|
||
Yates JR,
|
||
al-Imara L,
|
||
Pope FM,
|
||
Scott JD</span><br />
|
||
<span class="medgenPMjournal">Eye (Lond)</span>
|
||
1994;8 ( Pt 6):609-14.
|
||
doi: 10.1038/eye.1994.153.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7867814" target="_blank">7867814</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Stickler%20syndrome%2C%20type%204%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 (28)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C3279941%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (41)</a></li>
|
||
<li><a href="/gtr/tests?term=C3279941%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (60)</a></li>
|
||
<li><a href="/gtr/tests?term=C3279941%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (17)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C3279941%5bDISCUI%5d" target="_blank">See all (63)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=614134" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Stickler%20syndrome,%20type%204" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(stickler%20syndrome%2C%20type%204)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_115">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=120210" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=1297[geneid]" target="_blank">View COL9A1 variations in ClinVar</a></li><li><a href="/nuccore/225543372" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=614134" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/stickler_syndrome_type_iv" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Stickler%20syndrome,%20type%204" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/stickler-syndrome" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/18358/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/20301479" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Stickler%20syndrome,%20type%204" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Stickler%20syndrome,%20type%204%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=481571" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=481571" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C3279941[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C3279941[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=481571" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=481571" ref="log$=recordlinks">OMIM(Genes)</a>
|
||
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=481571" ref="log$=recordlinks">PMC Articles</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=481571" ref="log$=recordlinks">PubMed</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_bookshelf_cited&from_uid=481571" ref="log$=recordlinks">PubMed (Bookshelf cited)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Links to PubMed based on citations in GeneReviews and Medical Genetics Summaries</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=481571" ref="log$=recordlinks">PubMed (GeneReviews)</a>
|
||
<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=481571" ref="log$=recordlinks">PubMed (OMIM)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div class="portlet">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Recent activity</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="recent_activity" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<div id="HTDisplay" class="">
|
||
<input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Cmd" sid="1" type="hidden" />
|
||
<div class="action">
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" cmd="ClearHT" href="?cmd=ClearHT&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory">
|
||
Clear
|
||
</a>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOn" cmd="HTOff" href="?cmd=HTOff&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
|
||
Turn Off
|
||
</a>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="2" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOff" cmd="HTOn" href="?cmd=HTOn&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
|
||
Turn On
|
||
</a>
|
||
</div>
|
||
<ul id="activity">
|
||
<li class="ra_rcd ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d327e12f30673f7b489e11">Stickler syndrome, type 4</a>
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