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<meta name="keywords" content="C5193078, degs1, disease or syndrome, hld18, leukodystrophy, hypomyelinating, 18, 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="Hypomyelinating leukodystrophy-18 (HLD18) is an autosomal recessive neurologic disorder characterized by onset of global developmental delay usually in early infancy. Affected individuals have very poor psychomotor development, including inability to sit or walk independently in the more severe cases, as well as poor or absent speech, dystonia, and spasticity. A subset of patients may develop seizures. Brain imaging shows hypomyelinating leukodystrophy affecting various brain regions; some patients may also have progressive atrophy of the corpus callosum, thalami, and cerebellum (summary by Pant et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of hypomyelinating leukodystrophy, see 312080." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=1680067
|
||
ConceptID=C5193078
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Leukodystrophy, hypomyelinating, 18<span class="h1sub">(HLD18)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1680067</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:">C5193078</span></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>HLD18; LEUKODYSTROPHY, HYPOMYELINATING, 18</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="DEGS1 - ID: 8560 - NCBI Gene" href="/gene/8560" class="medgenPMinfo">DEGS1</a> (1q42.11)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0032730" target="_blank">MONDO:0032730</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/618404" target="_blank">618404</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Hypomyelinating leukodystrophy-18 (HLD18) is an autosomal recessive neurologic disorder characterized by onset of global developmental delay usually in early infancy. Affected individuals have very poor psychomotor development, including inability to sit or walk independently in the more severe cases, as well as poor or absent speech, dystonia, and spasticity. A subset of patients may develop seizures. Brain imaging shows hypomyelinating leukodystrophy affecting various brain regions; some patients may also have progressive atrophy of the corpus callosum, thalami, and cerebellum (summary by Pant et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of hypomyelinating leukodystrophy, see 312080. [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
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<div class="portlet mgSection" id="ID_102">
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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>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_746019"><div><strong>Failure to thrive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>746019</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2315100</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/746019">Feature record</a> | <a href="/medgen?term=%22Failure%20to%20thrive%22%5BClinical%20Features%5D%20OR%20746019%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_65429"><div><strong>Feeding difficulties</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65429</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.">C0232466</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65429">Feature record</a> | <a href="/medgen?term=%22Feeding%20difficulties%22%5BClinical%20Features%5D%20OR%2065429%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_892362"><div><strong>Gastrostomy tube feeding in infancy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>892362</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.">C4023342</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Feeding problem necessitating gastrostomy tube feeding.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/892362">Feature record</a> | <a href="/medgen?term=%22Gastrostomy%20tube%20feeding%20in%20infancy%22%5BClinical%20Features%5D%20OR%20892362%5Buid%5D">Search on this feature</a></div></div>
|
||
<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>
|
||
<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>
|
||
<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>
|
||
<div class="divPopper rprt" id="clin_3940"><div><strong>Dystonic disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3940</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.">C0013421</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/3940">Feature record</a> | <a href="/medgen?term=%22Dystonic%20disorder%22%5BClinical%20Features%5D%20OR%203940%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_7753"><div><strong>Spasticity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7753</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.">C0026838</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7753">Feature record</a> | <a href="/medgen?term=%22Spasticity%22%5BClinical%20Features%5D%20OR%207753%5Buid%5D">Search on this feature</a></div></div>
|
||
<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>
|
||
<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>
|
||
<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>
|
||
<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>
|
||
<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>
|
||
<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>
|
||
<div class="divPopper rprt" id="clin_68583"><div><strong>Dysmetria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>68583</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0234162</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/68583">Feature record</a> | <a href="/medgen?term=%22Dysmetria%22%5BClinical%20Features%5D%20OR%2068583%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_82859"><div><strong>Demyelinating peripheral neuropathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82859</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.">C0270922</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Demyelinating neuropathy is characterized by slow nerve conduction velocities with reduced amplitudes of sensory/motor nerve conduction and prolonged distal latencies.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/82859">Feature record</a> | <a href="/medgen?term=%22Demyelinating%20peripheral%20neuropathy%22%5BClinical%20Features%5D%20OR%2082859%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_98433"><div><strong>Spastic tetraplegia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98433</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.">C0426970</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spastic paralysis affecting all four limbs.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98433">Feature record</a> | <a href="/medgen?term=%22Spastic%20tetraplegia%22%5BClinical%20Features%5D%20OR%2098433%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_105318"><div><strong>Delayed speech and language development</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>105318</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0454644</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A degree of language development that is significantly below the norm for a child of a specified age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/105318">Feature record</a> | <a href="/medgen?term=%22Delayed%20speech%20and%20language%20development%22%5BClinical%20Features%5D%20OR%20105318%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_107838"><div><strong>Global developmental delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107838</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0557874</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/107838">Feature record</a> | <a href="/medgen?term=%22Global%20developmental%20delay%22%5BClinical%20Features%5D%20OR%20107838%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_196624"><div><strong>Cerebellar atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>196624</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.">C0740279</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/196624">Feature record</a> | <a href="/medgen?term=%22Cerebellar%20atrophy%22%5BClinical%20Features%5D%20OR%20196624%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_332436"><div><strong>Severe global developmental delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332436</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1837397</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A severe delay in the achievement of motor or mental milestones in the domains of development of a child.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/332436">Feature record</a> | <a href="/medgen?term=%22Severe%20global%20developmental%20delay%22%5BClinical%20Features%5D%20OR%20332436%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_340737"><div><strong>Absent speech</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340737</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.">C1854882</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Complete lack of development of speech and language abilities.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/340737">Feature record</a> | <a href="/medgen?term=%22Absent%20speech%22%5BClinical%20Features%5D%20OR%20340737%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_347509"><div><strong>Decreased nerve conduction velocity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347509</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.">C1857640</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A reduction in the speed at which electrical signals propagate along the axon of a neuron.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/347509">Feature record</a> | <a href="/medgen?term=%22Decreased%20nerve%20conduction%20velocity%22%5BClinical%20Features%5D%20OR%20347509%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_347171"><div><strong>Progressive spasticity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347171</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.">C1859520</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spasticity that increases in degree with time.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/347171">Feature record</a> | <a href="/medgen?term=%22Progressive%20spasticity%22%5BClinical%20Features%5D%20OR%20347171%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_435926"><div><strong>Abnormal periventricular white matter morphology</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>435926</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.">C2673431</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A structural abnormality of the myelinated axons (white matter) located near the cerebral ventricles.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/435926">Feature record</a> | <a href="/medgen?term=%22Abnormal%20periventricular%20white%20matter%20morphology%22%5BClinical%20Features%5D%20OR%20435926%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_866684"><div><strong>Abnormal motor nerve conduction velocity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>866684</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.">C4021031</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/866684">Feature record</a> | <a href="/medgen?term=%22Abnormal%20motor%20nerve%20conduction%20velocity%22%5BClinical%20Features%5D%20OR%20866684%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_870454"><div><strong>Atrophy/Degeneration affecting the brainstem</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>870454</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.">C4024900</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/870454">Feature record</a> | <a href="/medgen?term=%22Atrophy%2FDegeneration%20affecting%20the%20brainstem%22%5BClinical%20Features%5D%20OR%20870454%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_83069"><div><strong>Flexion contracture</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>83069</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0333068</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/83069">Feature record</a> | <a href="/medgen?term=%22Flexion%20contracture%22%5BClinical%20Features%5D%20OR%2083069%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_608952"><div><strong>Secondary microcephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>608952</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.">C0431352</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Head circumference which falls below 2 standard deviations below the mean for age and gender because of insufficient head growth after birth.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/608952">Feature record</a> | <a href="/medgen?term=%22Secondary%20microcephaly%22%5BClinical%20Features%5D%20OR%20608952%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_45166"><div><strong>Nystagmus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>45166</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0028738</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/45166">Feature record</a> | <a href="/medgen?term=%22Nystagmus%22%5BClinical%20Features%5D%20OR%2045166%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of the digestive system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65429" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Feeding difficulties</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_892362" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gastrostomy tube feeding in infancy</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_45166" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nystagmus</a></span></li></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_83069" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Flexion contracture</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_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_608952" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Secondary microcephaly</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_866684" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal motor nerve conduction velocity</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_435926" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal periventricular white matter morphology</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_340737" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Absent speech</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_870454" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Atrophy/Degeneration affecting the brainstem</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_196624" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebellar atrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_347509" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased nerve conduction velocity</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_105318" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Delayed speech and language development</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_82859" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Demyelinating peripheral neuropathy</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_68583" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dysmetria</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_3940" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dystonic disorder</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_347171" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Progressive spasticity</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_332436" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Severe global developmental delay</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98433" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spastic tetraplegia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7753" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spasticity</a></span></li></ul></li><li><span class="TLline">Growth abnormality</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_746019" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Failure to thrive</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
<div class="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/35691411">A novel variant of the POLR3A gene in a patient with hypomyelinating POLR3-related leukodystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yoon Han J,
|
||
Gon Cho Y,
|
||
Park J,
|
||
Jang W</span><br />
|
||
<span class="medgenPMjournal">Clin Chim Acta</span>
|
||
2022 Aug 1;533:15-21.
|
||
Epub 2022 Jun 9
|
||
doi: 10.1016/j.cca.2022.06.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35691411" target="_blank">35691411</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29451896">Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ji H,
|
||
Li D,
|
||
Wu Y,
|
||
Zhang Q,
|
||
Gu Q,
|
||
Xie H,
|
||
Ji T,
|
||
Wang H,
|
||
Zhao L,
|
||
Zhao H,
|
||
Yang Y,
|
||
Feng H,
|
||
Xiong H,
|
||
Ji J,
|
||
Yang Z,
|
||
Kou L,
|
||
Li M,
|
||
Bao X,
|
||
Chang X,
|
||
Zhang Y,
|
||
Li L,
|
||
Li H,
|
||
Niu Z,
|
||
Wu X,
|
||
Xiao J,
|
||
Jiang Y,
|
||
Wang J</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2018;13(2):e0188869.
|
||
Epub 2018 Feb 16
|
||
doi: 10.1371/journal.pone.0188869.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29451896" target="_blank">29451896</a><a href="/pmc/articles/PMC5815574" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28493104">Hypomyelinating leukodystrophy associated with a deleterious mutation in the ATRN gene.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shahrour MA,
|
||
Ashhab M,
|
||
Edvardson S,
|
||
Gur M,
|
||
Abu-Libdeh B,
|
||
Elpeleg O</span><br />
|
||
<span class="medgenPMjournal">Neurogenetics</span>
|
||
2017 Jul;18(3):135-139.
|
||
Epub 2017 May 10
|
||
doi: 10.1007/s10048-017-0515-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28493104" target="_blank">28493104</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/23694757">Novel compound heterozygous mutations of POLR3A revealed by whole-exome sequencing in a patient with hypomyelination.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shimojima K,
|
||
Shimada S,
|
||
Tamasaki A,
|
||
Akaboshi S,
|
||
Komoike Y,
|
||
Saito A,
|
||
Furukawa T,
|
||
Yamamoto T</span><br />
|
||
<span class="medgenPMjournal">Brain Dev</span>
|
||
2014 Apr;36(4):315-21.
|
||
Epub 2013 May 18
|
||
doi: 10.1016/j.braindev.2013.04.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23694757" target="_blank">23694757</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Leukodystrophy%2C%20hypomyelinating%2C%2018%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 (11)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37443037">Hypomyelination caused by a novel homozygous pathogenic variant in FOLR1: complete clinical and radiological recovery with oral folinic acid therapy and review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Potic A,
|
||
Perrier S,
|
||
Radovic T,
|
||
Gavrilovic S,
|
||
Ostojic J,
|
||
Tran LT,
|
||
Thiffault I,
|
||
Pastinen T,
|
||
Schiffmann R,
|
||
Bernard G</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2023 Jul 13;18(1):187.
|
||
doi: 10.1186/s13023-023-02802-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37443037" target="_blank">37443037</a><a href="/pmc/articles/PMC10339608" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36988728">A novel variant of the POLR3A gene in a Chinese patient with POLR3-related leukodystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yang H,
|
||
Wu Z,
|
||
Li X,
|
||
Huang Y,
|
||
Li J,
|
||
He F,
|
||
Feng L,
|
||
Xiao B,
|
||
Tang W</span><br />
|
||
<span class="medgenPMjournal">Neurol Sci</span>
|
||
2023 Sep;44(9):3363-3368.
|
||
Epub 2023 Mar 29
|
||
doi: 10.1007/s10072-023-06767-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36988728" target="_blank">36988728</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34187860">Child Neurology: Hypotonia and Delayed Teeth Eruption in a 2-Year-Old Girl.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dinov D,
|
||
Vorona G,
|
||
Harper A</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2021 Nov 2;97(18):875-878.
|
||
Epub 2021 Jun 29
|
||
doi: 10.1212/WNL.0000000000012445.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34187860" target="_blank">34187860</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31940116">POLR3A variants with striatal involvement and extrapyramidal movement disorder.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Harting I,
|
||
Al-Saady M,
|
||
Krägeloh-Mann I,
|
||
Bley A,
|
||
Hempel M,
|
||
Bierhals T,
|
||
Karch S,
|
||
Moog U,
|
||
Bernard G,
|
||
Huntsman R,
|
||
van Spaendonk RML,
|
||
Vreeburg M,
|
||
Rodríguez-Palmero A,
|
||
Pujol A,
|
||
van der Knaap MS,
|
||
Pouwels PJW,
|
||
Wolf NI</span><br />
|
||
<span class="medgenPMjournal">Neurogenetics</span>
|
||
2020 Apr;21(2):121-133.
|
||
Epub 2020 Jan 15
|
||
doi: 10.1007/s10048-019-00602-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31940116" target="_blank">31940116</a><a href="/pmc/articles/PMC7064625" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29451896">Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ji H,
|
||
Li D,
|
||
Wu Y,
|
||
Zhang Q,
|
||
Gu Q,
|
||
Xie H,
|
||
Ji T,
|
||
Wang H,
|
||
Zhao L,
|
||
Zhao H,
|
||
Yang Y,
|
||
Feng H,
|
||
Xiong H,
|
||
Ji J,
|
||
Yang Z,
|
||
Kou L,
|
||
Li M,
|
||
Bao X,
|
||
Chang X,
|
||
Zhang Y,
|
||
Li L,
|
||
Li H,
|
||
Niu Z,
|
||
Wu X,
|
||
Xiao J,
|
||
Jiang Y,
|
||
Wang J</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2018;13(2):e0188869.
|
||
Epub 2018 Feb 16
|
||
doi: 10.1371/journal.pone.0188869.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29451896" target="_blank">29451896</a><a href="/pmc/articles/PMC5815574" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Leukodystrophy%2C%20hypomyelinating%2C%2018%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 (9)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37443037">Hypomyelination caused by a novel homozygous pathogenic variant in FOLR1: complete clinical and radiological recovery with oral folinic acid therapy and review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Potic A,
|
||
Perrier S,
|
||
Radovic T,
|
||
Gavrilovic S,
|
||
Ostojic J,
|
||
Tran LT,
|
||
Thiffault I,
|
||
Pastinen T,
|
||
Schiffmann R,
|
||
Bernard G</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2023 Jul 13;18(1):187.
|
||
doi: 10.1186/s13023-023-02802-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37443037" target="_blank">37443037</a><a href="/pmc/articles/PMC10339608" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Leukodystrophy%2C%20hypomyelinating%2C%2018%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37890668">The atypical sphingolipid SPB 18:1(14Z);O2 is a biomarker for DEGS1 related hypomyelinating leukodystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hülsmeier AJ,
|
||
Toelle SP,
|
||
Bellstedt P,
|
||
Wentzel C,
|
||
Bahr A,
|
||
Kolokotronis K,
|
||
Hornemann T</span><br />
|
||
<span class="medgenPMjournal">J Lipid Res</span>
|
||
2023 Dec;64(12):100464.
|
||
Epub 2023 Oct 27
|
||
doi: 10.1016/j.jlr.2023.100464.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37890668" target="_blank">37890668</a><a href="/pmc/articles/PMC10696257" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37443037">Hypomyelination caused by a novel homozygous pathogenic variant in FOLR1: complete clinical and radiological recovery with oral folinic acid therapy and review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Potic A,
|
||
Perrier S,
|
||
Radovic T,
|
||
Gavrilovic S,
|
||
Ostojic J,
|
||
Tran LT,
|
||
Thiffault I,
|
||
Pastinen T,
|
||
Schiffmann R,
|
||
Bernard G</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2023 Jul 13;18(1):187.
|
||
doi: 10.1186/s13023-023-02802-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37443037" target="_blank">37443037</a><a href="/pmc/articles/PMC10339608" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34187860">Child Neurology: Hypotonia and Delayed Teeth Eruption in a 2-Year-Old Girl.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dinov D,
|
||
Vorona G,
|
||
Harper A</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2021 Nov 2;97(18):875-878.
|
||
Epub 2021 Jun 29
|
||
doi: 10.1212/WNL.0000000000012445.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34187860" target="_blank">34187860</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28842795">X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Miyake N,
|
||
Wolf NI,
|
||
Cayami FK,
|
||
Crawford J,
|
||
Bley A,
|
||
Bulas D,
|
||
Conant A,
|
||
Bent SJ,
|
||
Gripp KW,
|
||
Hahn A,
|
||
Humphray S,
|
||
Kimura-Ohba S,
|
||
Kingsbury Z,
|
||
Lajoie BR,
|
||
Lal D,
|
||
Micha D,
|
||
Pizzino A,
|
||
Sinke RJ,
|
||
Sival D,
|
||
Stolte-Dijkstra I,
|
||
Superti-Furga A,
|
||
Ulrick N,
|
||
Taft RJ,
|
||
Ogata T,
|
||
Ozono K,
|
||
Matsumoto N,
|
||
Neubauer BA,
|
||
Simons C,
|
||
Vanderver A</span><br />
|
||
<span class="medgenPMjournal">Neurogenetics</span>
|
||
2017 Dec;18(4):185-194.
|
||
Epub 2017 Aug 26
|
||
doi: 10.1007/s10048-017-0520-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28842795" target="_blank">28842795</a><a href="/pmc/articles/PMC5705759" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28493104">Hypomyelinating leukodystrophy associated with a deleterious mutation in the ATRN gene.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shahrour MA,
|
||
Ashhab M,
|
||
Edvardson S,
|
||
Gur M,
|
||
Abu-Libdeh B,
|
||
Elpeleg O</span><br />
|
||
<span class="medgenPMjournal">Neurogenetics</span>
|
||
2017 Jul;18(3):135-139.
|
||
Epub 2017 May 10
|
||
doi: 10.1007/s10048-017-0515-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28493104" target="_blank">28493104</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Leukodystrophy%2C%20hypomyelinating%2C%2018%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 (8)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37890668">The atypical sphingolipid SPB 18:1(14Z);O2 is a biomarker for DEGS1 related hypomyelinating leukodystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hülsmeier AJ,
|
||
Toelle SP,
|
||
Bellstedt P,
|
||
Wentzel C,
|
||
Bahr A,
|
||
Kolokotronis K,
|
||
Hornemann T</span><br />
|
||
<span class="medgenPMjournal">J Lipid Res</span>
|
||
2023 Dec;64(12):100464.
|
||
Epub 2023 Oct 27
|
||
doi: 10.1016/j.jlr.2023.100464.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37890668" target="_blank">37890668</a><a href="/pmc/articles/PMC10696257" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36988728">A novel variant of the POLR3A gene in a Chinese patient with POLR3-related leukodystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yang H,
|
||
Wu Z,
|
||
Li X,
|
||
Huang Y,
|
||
Li J,
|
||
He F,
|
||
Feng L,
|
||
Xiao B,
|
||
Tang W</span><br />
|
||
<span class="medgenPMjournal">Neurol Sci</span>
|
||
2023 Sep;44(9):3363-3368.
|
||
Epub 2023 Mar 29
|
||
doi: 10.1007/s10072-023-06767-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36988728" target="_blank">36988728</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34296356">POLR3A variants in hereditary spastic paraparesis and ataxia: clinical, genetic, and neuroradiological findings in a cohort of Italian patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Di Donato I,
|
||
Gallo A,
|
||
Ricca I,
|
||
Fini N,
|
||
Silvestri G,
|
||
Gurrieri F,
|
||
Cirillo M,
|
||
Cerase A,
|
||
Natale G,
|
||
Matrone F,
|
||
Riso V,
|
||
Melone MAB,
|
||
Tessa A,
|
||
De Michele G,
|
||
Federico A,
|
||
Filla A,
|
||
Dotti MT,
|
||
Santorelli FM</span><br />
|
||
<span class="medgenPMjournal">Neurol Sci</span>
|
||
2022 Feb;43(2):1071-1077.
|
||
Epub 2021 Jul 23
|
||
doi: 10.1007/s10072-021-05462-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34296356" target="_blank">34296356</a><a href="/pmc/articles/PMC8789690" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28842795">X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Miyake N,
|
||
Wolf NI,
|
||
Cayami FK,
|
||
Crawford J,
|
||
Bley A,
|
||
Bulas D,
|
||
Conant A,
|
||
Bent SJ,
|
||
Gripp KW,
|
||
Hahn A,
|
||
Humphray S,
|
||
Kimura-Ohba S,
|
||
Kingsbury Z,
|
||
Lajoie BR,
|
||
Lal D,
|
||
Micha D,
|
||
Pizzino A,
|
||
Sinke RJ,
|
||
Sival D,
|
||
Stolte-Dijkstra I,
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||
Superti-Furga A,
|
||
Ulrick N,
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||
Taft RJ,
|
||
Ogata T,
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||
Ozono K,
|
||
Matsumoto N,
|
||
Neubauer BA,
|
||
Simons C,
|
||
Vanderver A</span><br />
|
||
<span class="medgenPMjournal">Neurogenetics</span>
|
||
2017 Dec;18(4):185-194.
|
||
Epub 2017 Aug 26
|
||
doi: 10.1007/s10048-017-0520-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28842795" target="_blank">28842795</a><a href="/pmc/articles/PMC5705759" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28493104">Hypomyelinating leukodystrophy associated with a deleterious mutation in the ATRN gene.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shahrour MA,
|
||
Ashhab M,
|
||
Edvardson S,
|
||
Gur M,
|
||
Abu-Libdeh B,
|
||
Elpeleg O</span><br />
|
||
<span class="medgenPMjournal">Neurogenetics</span>
|
||
2017 Jul;18(3):135-139.
|
||
Epub 2017 May 10
|
||
doi: 10.1007/s10048-017-0515-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28493104" target="_blank">28493104</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Leukodystrophy%2C%20hypomyelinating%2C%2018%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 (6)</a></div></div>
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<div class="supplemental col three_col last">
|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
|
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|
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C5193078%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (5)</a></li>
|
||
<li><a href="/gtr/tests?term=C5193078%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (5)</a></li>
|
||
<li><a href="/gtr/tests?term=C5193078%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (2)</a></li>
|
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C5193078%5bDISCUI%5d" target="_blank">See all (6)</a></total></li>
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