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<meta name="keywords" content="C1864663, congenital abnormality, disease or syndrome, fam126a leukodystrophy, hcc - hypomyelination and congenital cataract, hld5, hycc1, hypomyelinating leukodystrophy 5, hypomyelinating leukodystrophy type 5, hypomyelination - congenital cataract, hypomyelination and congenital cataract, hypomyelination and congenital cataract: hcc, hypomyelination-congenital cataract syndrome, leukodystrophy caused by mutation in fam126a, leukodystrophy, hypomyelinating, 5, leukodystrophy, hypomyelinating, type 5, 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="Hypomyelination and congenital cataract (HCC) is usually characterized by bilateral congenital cataracts and normal psychomotor or only mildly delayed development in the first year of life, followed by slowly progressive neurologic impairment manifest as ataxia, spasticity (brisk tendon reflexes and bilateral extensor plantar responses), and mild-to-moderate cognitive impairment. Dysarthria and truncal hypotonia are observed. Cerebellar signs (truncal titubation and intention tremor) and peripheral neuropathy (muscle weakness and wasting of the legs) are present in the majority of affected individuals. Seizures can occur. Cataracts may be absent in some individuals." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=501134
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ConceptID=C1864663
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-->
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<!--imgCountBooks = 5--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Images (5)</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK2587/bin/hypo-mcc-Image002.gif" src-large="/books/NBK2587/bin/hypo-mcc-Image002.jpg" /></a><br /><a href="/books/NBK2587/figure/hypo-mcc.F2/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK2587/bin/hypo-mcc-Image001.gif" src-large="/books/NBK2587/bin/hypo-mcc-Image001.jpg" /></a><br /><a href="/books/NBK2587/figure/hypo-mcc.F1/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK2587/bin/hypo-mcc-Image004.gif" src-large="/books/NBK2587/bin/hypo-mcc-Image004.jpg" /></a><br /><a href="/books/NBK2587/figure/hypo-mcc.F4/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK2587/bin/hypo-mcc-Image003.gif" src-large="/books/NBK2587/bin/hypo-mcc-Image003.jpg" /></a><br /><a href="/books/NBK2587/figure/hypo-mcc.F3/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK2587/bin/hypo-mcc-Image005.gif" src-large="/books/NBK2587/bin/hypo-mcc-Image005.jpg" /></a><br /><a href="/books/NBK2587/figure/hypo-mcc.F5/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Hypomyelination and Congenital Cataract<span class="h1sub">(HLD5)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>501134</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C1864663</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality; Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>HLD5; LEUKODYSTROPHY, HYPOMYELINATING, 5</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>HCC - hypomyelination and congenital cataract (702379005); Hypomyelination and congenital cataract (702379005)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0441748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="HYCC1 - ID: 84668 - NCBI Gene" href="/gene/84668" class="medgenPMinfo">HYCC1</a> (7p15.3)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0012514" target="_blank">MONDO:0012514</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/610532" target="_blank">610532</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=85163">ORPHA85163</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>
|
||
<div class="portlet mgSection" id="ID_101">
|
||
<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/NBK2587" target="_blank">Hypomyelination and Congenital Cataract</a></div><div>Hypomyelination and congenital cataract (HCC) is usually characterized by bilateral congenital cataracts and normal psychomotor or only mildly delayed development in the first year of life, followed by slowly progressive neurologic impairment manifest as ataxia, spasticity (brisk tendon reflexes and bilateral extensor plantar responses), and mild-to-moderate cognitive impairment. Dysarthria and truncal hypotonia are observed. Cerebellar signs (truncal titubation and intention tremor) and peripheral neuropathy (muscle weakness and wasting of the legs) are present in the majority of affected individuals. Seizures can occur. Cataracts may be absent in some individuals. [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/NBK2587#hypo-mcc.Summary" target="NBK2587">Summary</a> | <a class="medgenPMinfo" href="/books/NBK2587#hypo-mcc.Diagnosis" target="NBK2587">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK2587#hypo-mcc.Clinical_Characteristics" target="NBK2587">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK2587#hypo-mcc.Genetically_Related_Allelic_Dis" target="NBK2587">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK2587#hypo-mcc.Differential_Diagnosis" target="NBK2587">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK2587#hypo-mcc.Management" target="NBK2587">Management</a> | <a class="medgenPMinfo" href="/books/NBK2587#hypo-mcc.Genetic_Counseling" target="NBK2587">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK2587#hypo-mcc.Resources" target="NBK2587">Resources</a> | <a class="medgenPMinfo" href="/books/NBK2587#hypo-mcc.Molecular_Genetics" target="NBK2587">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK2587#hypo-mcc.Chapter_Notes" target="NBK2587">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK2587#hypo-mcc.References" target="NBK2587">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Nicole I Wolf | Roberta Biancheri | Federico Zara<i>, et. al.</i> <a href="/books/NBK2587" target="NBK2587" title="NCBI Bookshelf: Hypomyelination and Congenital Cataract">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 />Hypomyelination and congenital cataract is an inherited condition that affects the nervous system and the eyes. This disease is one of a group of genetic disorders called leukoencephalopathies. Leukoencephalopathies involve abnormalities of the brain's white matter. White matter consists of nerve fibers covered by a fatty substance called myelin. Myelin insulates nerve fibers and promotes the rapid transmission of nerve impulses. Hypomyelination and congenital cataract is caused by a reduced ability to form myelin (hypomyelination). Additionally, people with this disorder are typically born with a clouding of the lens (cataract) in both eyes.<br /><br />People with this condition usually have normal development throughout the first year of life. Development slows around the age of 1. Most affected children learn to walk between the ages of 1 and 2, although they usually need some type of support. Over time they experience muscle weakness and wasting (atrophy) in their legs, and many affected people eventually require wheelchair assistance. Weakness in the muscles of the trunk and a progressive abnormal curvature of the spine (scoliosis) further impair walking in some individuals. Most people with hypomyelination and congenital cataract have reduced sensation in their arms and legs (peripheral neuropathy). In addition, affected individuals typically have speech difficulties (dysarthria) and mild to moderate intellectual disability. <a target="_blank" href="https://medlineplus.gov/genetics/condition/hypomyelination-and-congenital-cataract">https://medlineplus.gov/genetics/condition/hypomyelination-and-congenital-cataract</a></div></div>
|
||
</div>
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|
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<div class="portlet mgSection" id="ID_102">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
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<div class="divPopper rprt" id="clin_324478"><div><strong>Lower limb muscle weakness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>324478</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.">C1836296</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">Weakness of the muscles of the legs.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/324478">Feature record</a> | <a href="/medgen?term=%22Lower%20limb%20muscle%20weakness%22%5BClinical%20Features%5D%20OR%20324478%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_8510"><div><strong>Dysarthria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8510</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.">C0013362</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
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<div class="spaceAbove">Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/8510">Feature record</a> | <a href="/medgen?term=%22Dysarthria%22%5BClinical%20Features%5D%20OR%208510%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_6070"><div><strong>Leukodystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6070</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0023520</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Leukodystrophy refers to deterioration of white matter of the brain resulting from degeneration of myelin sheaths in the CNS. Their basic defect is directly related to the synthesis and maintenance of myelin membranes. Symmetric white matter involvement at MRI is a typical finding in patients with leukodystrophies.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/6070">Feature record</a> | <a href="/medgen?term=%22Leukodystrophy%22%5BClinical%20Features%5D%20OR%206070%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_19708"><div><strong>Babinski sign</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>19708</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0034935</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/19708">Feature record</a> | <a href="/medgen?term=%22Babinski%20sign%22%5BClinical%20Features%5D%20OR%2019708%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_20693"><div><strong>Seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>20693</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.">C0036572</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
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<div class="spaceAbove">A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/20693">Feature record</a> | <a href="/medgen?term=%22Seizure%22%5BClinical%20Features%5D%20OR%2020693%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_57738"><div><strong>Hyperreflexia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57738</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0151889</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/57738">Feature record</a> | <a href="/medgen?term=%22Hyperreflexia%22%5BClinical%20Features%5D%20OR%2057738%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_57502"><div><strong>Polyneuropathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57502</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.">C0152025</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">A generalized disorder of peripheral nerves.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/57502">Feature record</a> | <a href="/medgen?term=%22Polyneuropathy%22%5BClinical%20Features%5D%20OR%2057502%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_68582"><div><strong>Abnormal pyramidal sign</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>68582</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.">C0234132</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
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<div class="spaceAbove">Functional neurological abnormalities related to dysfunction of the pyramidal tract.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/68582">Feature record</a> | <a href="/medgen?term=%22Abnormal%20pyramidal%20sign%22%5BClinical%20Features%5D%20OR%2068582%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_66034"><div><strong>Delayed ability to walk</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66034</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.">C0241726</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/66034">Feature record</a> | <a href="/medgen?term=%22Delayed%20ability%20to%20walk%22%5BClinical%20Features%5D%20OR%2066034%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_107838"><div><strong>Global developmental delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107838</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0557874</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/107838">Feature record</a> | <a href="/medgen?term=%22Global%20developmental%20delay%22%5BClinical%20Features%5D%20OR%20107838%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_332305"><div><strong>Loss of ambulation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332305</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.">C1836843</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">Inability to walk in a person who previous had the ability to walk.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/332305">Feature record</a> | <a href="/medgen?term=%22Loss%20of%20ambulation%22%5BClinical%20Features%5D%20OR%20332305%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_376237"><div><strong>Onion bulb formation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376237</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.">C1847906</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">Repeated episodes of segmental demyelination and remyelination lead to the accumulation of supernumerary Schwann cells around axons, which is referred to as onion bulb formation. This finding affects peripheral nerves.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/376237">Feature record</a> | <a href="/medgen?term=%22Onion%20bulb%20formation%22%5BClinical%20Features%5D%20OR%20376237%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_381392"><div><strong>Motor delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>381392</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.">C1854301</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">A type of Developmental delay characterized by a delay in acquiring motor skills.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/381392">Feature record</a> | <a href="/medgen?term=%22Motor%20delay%22%5BClinical%20Features%5D%20OR%20381392%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_388130"><div><strong>Decreased motor nerve conduction velocity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>388130</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.">C1858729</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">A type of decreased nerve conduction velocity that affects the motor neuron.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/388130">Feature record</a> | <a href="/medgen?term=%22Decreased%20motor%20nerve%20conduction%20velocity%22%5BClinical%20Features%5D%20OR%20388130%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_400925"><div><strong>Abnormal cerebellum morphology</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>400925</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.">C1866129</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
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<div class="spaceAbove">Any structural abnormality of the cerebellum.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/400925">Feature record</a> | <a href="/medgen?term=%22Abnormal%20cerebellum%20morphology%22%5BClinical%20Features%5D%20OR%20400925%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_382380"><div><strong>Truncal titubation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>382380</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.">C2674512</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">Tremor of the trunk in an anterior-posterior plane at 3-4 Hz.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/382380">Feature record</a> | <a href="/medgen?term=%22Truncal%20titubation%22%5BClinical%20Features%5D%20OR%20382380%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_811461"><div><strong>Intellectual disability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811461</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3714756</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
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<div class="spaceAbove">Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/811461">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%22%5BClinical%20Features%5D%20OR%20811461%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_867773"><div><strong>Delayed somatosensory central conduction time</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>867773</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.">C4022163</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">An abnormal increase (delay) in the somatosensory central conduction time (CCT), which can be measured from the peak of N13 to the peak of N20 (peak CCT) or from the onset of N11 to the onset of N20 (onset CCT).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/867773">Feature record</a> | <a href="/medgen?term=%22Delayed%20somatosensory%20central%20conduction%20time%22%5BClinical%20Features%5D%20OR%20867773%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_868341"><div><strong>Cerebral white matter atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>868341</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.">C4022735</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
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<div class="spaceAbove">The presence of atrophy (wasting) of the cerebral white matter.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/868341">Feature record</a> | <a href="/medgen?term=%22Cerebral%20white%20matter%20atrophy%22%5BClinical%20Features%5D%20OR%20868341%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_870862"><div><strong>Delayed brainstem auditory evoked response conduction time</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>870862</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.">C4025322</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">An abnormal increase (delay) in the conduction time of the brainstem auditory-evoked response.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/870862">Feature record</a> | <a href="/medgen?term=%22Delayed%20brainstem%20auditory%20evoked%20response%20conduction%20time%22%5BClinical%20Features%5D%20OR%20870862%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_892446"><div><strong>CNS hypomyelination</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>892446</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.">C4025616</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">Reduced amount of myelin in the central nervous system resulting from defective myelinogenesis.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/892446">Feature record</a> | <a href="/medgen?term=%22CNS%20hypomyelination%22%5BClinical%20Features%5D%20OR%20892446%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_1642960"><div><strong>Intention tremor</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1642960</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.">C4551520</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
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<div class="spaceAbove">A type of kinetic tremor that occurs during target directed movement is called intention tremor. That is, an oscillatory cerebellar ataxia that tends to be absent when the limbs are inactive and during the first part of voluntary movement but worsening as the movement continues and greater precision is required (e.g., in touching a target such as the patient's nose or a physician's finger).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1642960">Feature record</a> | <a href="/medgen?term=%22Intention%20tremor%22%5BClinical%20Features%5D%20OR%201642960%5Buid%5D">Search on this feature</a></div></div>
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<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>
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<div class="spaceAbove">The presence of an abnormal lateral curvature of the spine.</div>
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<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>
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<div class="divPopper rprt" id="clin_342959"><div><strong>Axial hypotonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>342959</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1853743</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/342959">Feature record</a> | <a href="/medgen?term=%22Axial%20hypotonia%22%5BClinical%20Features%5D%20OR%20342959%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_870475"><div><strong>Lower limb amyotrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>870475</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.">C4024921</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">Muscular atrophy affecting the lower limb.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/870475">Feature record</a> | <a href="/medgen?term=%22Lower%20limb%20amyotrophy%22%5BClinical%20Features%5D%20OR%20870475%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_3202"><div><strong>Developmental cataract</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3202</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.">C0009691</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
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<div class="spaceAbove">A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/3202">Feature record</a> | <a href="/medgen?term=%22Developmental%20cataract%22%5BClinical%20Features%5D%20OR%203202%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 limbs</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_324478" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lower limb muscle weakness</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_3202" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental cataract</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_342959" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Axial hypotonia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_870475" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lower limb amyotrophy</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></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_400925" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal cerebellum morphology</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_68582" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal pyramidal sign</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_19708" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Babinski sign</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_868341" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebral white matter atrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_892446" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">CNS hypomyelination</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_388130" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased motor nerve conduction velocity</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66034" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Delayed ability to walk</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_870862" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Delayed brainstem auditory evoked response conduction time</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_867773" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Delayed somatosensory central conduction time</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8510" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dysarthria</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_107838" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Global developmental delay</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57738" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperreflexia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_811461" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1642960" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intention tremor</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6070" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Leukodystrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_332305" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Loss of ambulation</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_381392" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Motor delay</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_376237" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Onion bulb formation</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57502" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Polyneuropathy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_20693" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_382380" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Truncal titubation</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="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1864663[DISCUI]&test_type=Clinical" ref="ncbi_uid=501134">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=501134" target="_blank" href="/omim/610531">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK2587/" ref="ncbi_uid=501134">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=501134" ref="ncbi_uid=501134">V</a></span></span><span class="TLline">Hypomyelination and Congenital Cataract</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/474891" ref="tree=MeSH" title="MedGen record for Congenital Systemic Disorder">Congenital Systemic Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/105425" ref="tree=MeSH" title="MedGen record for Abnormality of the nervous system">Abnormality of the nervous system</a></span><ul><li><span class="TLline"><a href="/medgen/868416" ref="tree=MeSH" title="MedGen record for Abnormal nervous system morphology">Abnormal nervous system morphology</a></span><ul><li><span class="TLline"><a href="/medgen/347527" ref="tree=MeSH" title="MedGen record for Abnormal myelination">Abnormal myelination</a></span><ul><li><span class="TLline"><a href="/medgen/866800" ref="tree=MeSH" title="MedGen record for Abnormal CNS myelination">Abnormal CNS myelination</a></span><ul><li><span class="TLline"><a href="/medgen/6070" ref="tree=MeSH" title="MedGen record for Leukodystrophy">Leukodystrophy</a></span><ul><li><span class="matched_ds">Hypomyelination and Congenital Cataract</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34192786">Hypomyelination and Congenital Cataract: Clinical, Imaging, and Genetic Findings in Three Tunisian Families and Literature Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kraoua I,
|
||
Bouyacoub Y,
|
||
Drissi C,
|
||
Chargui M,
|
||
Rebai I,
|
||
Chebil A,
|
||
Klaa H,
|
||
Benrhouma H,
|
||
Hassen A,
|
||
Gouider-Khouja N,
|
||
Abdelhak S,
|
||
Boespflug-Tanguy O,
|
||
Youssef-Turki IB,
|
||
Dorboz I</span><br />
|
||
<span class="medgenPMjournal">Neuropediatrics</span>
|
||
2021 Aug;52(4):302-309.
|
||
Epub 2021 Jun 30
|
||
doi: 10.1055/s-0041-1728654.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34192786" target="_blank">34192786</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26571211">The leukodystrophy protein FAM126A (hyccin) regulates PtdIns(4)P synthesis at the plasma membrane.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Baskin JM,
|
||
Wu X,
|
||
Christiano R,
|
||
Oh MS,
|
||
Schauder CM,
|
||
Gazzerro E,
|
||
Messa M,
|
||
Baldassari S,
|
||
Assereto S,
|
||
Biancheri R,
|
||
Zara F,
|
||
Minetti C,
|
||
Raimondi A,
|
||
Simons M,
|
||
Walther TC,
|
||
Reinisch KM,
|
||
De Camilli P</span><br />
|
||
<span class="medgenPMjournal">Nat Cell Biol</span>
|
||
2016 Jan;18(1):132-8.
|
||
Epub 2015 Nov 16
|
||
doi: 10.1038/ncb3271.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26571211" target="_blank">26571211</a><a href="/pmc/articles/PMC4689616" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17974614">Hypomyelination and congenital cataract: neuroimaging features of a novel inherited white matter disorder.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rossi A,
|
||
Biancheri R,
|
||
Zara F,
|
||
Bruno C,
|
||
Uziel G,
|
||
van der Knaap MS,
|
||
Minetti C,
|
||
Tortori-Donati P</span><br />
|
||
<span class="medgenPMjournal">AJNR Am J Neuroradiol</span>
|
||
2008 Feb;29(2):301-5.
|
||
Epub 2007 Nov 1
|
||
doi: 10.3174/ajnr.A0792.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17974614" target="_blank">17974614</a><a href="/pmc/articles/PMC8118974" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17683097">Phenotypic characterization of hypomyelination and congenital cataract.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Biancheri R,
|
||
Zara F,
|
||
Bruno C,
|
||
Rossi A,
|
||
Bordo L,
|
||
Gazzerro E,
|
||
Sotgia F,
|
||
Pedemonte M,
|
||
Scapolan S,
|
||
Bado M,
|
||
Uziel G,
|
||
Bugiani M,
|
||
Lamba LD,
|
||
Costa V,
|
||
Schenone A,
|
||
Rozemuller AJ,
|
||
Tortori-Donati P,
|
||
Lisanti MP,
|
||
van der Knaap MS,
|
||
Minetti C</span><br />
|
||
<span class="medgenPMjournal">Ann Neurol</span>
|
||
2007 Aug;62(2):121-7.
|
||
doi: 10.1002/ana.21175.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17683097" target="_blank">17683097</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypomyelination%20and%20Congenital%20Cataract%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 (4)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32162147">Expanding Phenotype of Hypomyelination and Congenital Cataract (HCC) with a Novel Pathogenic Variant.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gowda VK,
|
||
Nagarajan B,
|
||
Srinivasan VM,
|
||
Bhat M</span><br />
|
||
<span class="medgenPMjournal">Indian J Pediatr</span>
|
||
2021 Mar;88(3):312-313.
|
||
Epub 2020 Mar 12
|
||
doi: 10.1007/s12098-020-03253-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32162147" target="_blank">32162147</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21911699">Hypomyelination and congenital cataract: broadening the clinical phenotype.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Biancheri R,
|
||
Zara F,
|
||
Rossi A,
|
||
Mathot M,
|
||
Nassogne MC,
|
||
Yalcinkaya C,
|
||
Erturk O,
|
||
Tuysuz B,
|
||
Di Rocco M,
|
||
Gazzerro E,
|
||
Bugiani M,
|
||
van Spaendonk R,
|
||
Sistermans EA,
|
||
Minetti C,
|
||
van der Knaap MS,
|
||
Wolf NI</span><br />
|
||
<span class="medgenPMjournal">Arch Neurol</span>
|
||
2011 Sep;68(9):1191-4.
|
||
doi: 10.1001/archneurol.2011.201.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21911699" target="_blank">21911699</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17974614">Hypomyelination and congenital cataract: neuroimaging features of a novel inherited white matter disorder.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rossi A,
|
||
Biancheri R,
|
||
Zara F,
|
||
Bruno C,
|
||
Uziel G,
|
||
van der Knaap MS,
|
||
Minetti C,
|
||
Tortori-Donati P</span><br />
|
||
<span class="medgenPMjournal">AJNR Am J Neuroradiol</span>
|
||
2008 Feb;29(2):301-5.
|
||
Epub 2007 Nov 1
|
||
doi: 10.3174/ajnr.A0792.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17974614" target="_blank">17974614</a><a href="/pmc/articles/PMC8118974" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17928815">A deletion in DRCTNNB1A associated with hypomyelination and juvenile onset cataract.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ugur SA,
|
||
Tolun A</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2008 Feb;16(2):261-4.
|
||
Epub 2007 Oct 10
|
||
doi: 10.1038/sj.ejhg.5201935.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17928815" target="_blank">17928815</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17683097">Phenotypic characterization of hypomyelination and congenital cataract.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Biancheri R,
|
||
Zara F,
|
||
Bruno C,
|
||
Rossi A,
|
||
Bordo L,
|
||
Gazzerro E,
|
||
Sotgia F,
|
||
Pedemonte M,
|
||
Scapolan S,
|
||
Bado M,
|
||
Uziel G,
|
||
Bugiani M,
|
||
Lamba LD,
|
||
Costa V,
|
||
Schenone A,
|
||
Rozemuller AJ,
|
||
Tortori-Donati P,
|
||
Lisanti MP,
|
||
van der Knaap MS,
|
||
Minetti C</span><br />
|
||
<span class="medgenPMjournal">Ann Neurol</span>
|
||
2007 Aug;62(2):121-7.
|
||
doi: 10.1002/ana.21175.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17683097" target="_blank">17683097</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypomyelination%20and%20Congenital%20Cataract%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 (6)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1864663%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (24)</a></li>
|
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<li><a href="/gtr/tests?term=C1864663%5bDISCUI%5d&filter=method%3A2%5F29" target="_blank">Detection of homozygosity (1)</a></li>
|
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<li><a href="/gtr/tests?term=C1864663%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
|
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<li><a href="/gtr/tests?term=C1864663%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (31)</a></li>
|
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<li><a href="/gtr/tests?term=C1864663%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (7)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1864663%5bDISCUI%5d" target="_blank">See all (36)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Hypomyelination+and+Congenital+Cataract/8617" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/leukodystrophy_hypomyelinating_5" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Hypomyelination%20and%20Congenital%20Cataract" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/hypomyelination-and-congenital-cataract" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/11980/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67ca74f8a68b6b5afca7fb75">Hypomyelination and Congenital Cataract</a>
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