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<meta name="keywords" content="C2677328, brain hypomyelination, cerebral hypomyelination, finding, hypomyelination of the brain, 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="Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the white matter of the central nervous system." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=383084
|
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ConceptID=C2677328
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Cerebral hypomyelination</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>383084</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C2677328</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Brain hypomyelination</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0006808">HP:0006808</a></td></tr>
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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">Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the white matter of the central nervous system. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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</div>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2677328[DISCUI]&test_type=Clinical" ref="ncbi_uid=383084">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=383084" ref="ncbi_uid=383084">V</a></span></span><span class="TLline">Cerebral hypomyelination</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/892446" ref="tree=MeSH" title="MedGen record for CNS hypomyelination">CNS hypomyelination</a></span><ul><li><span class="matched_ds">Cerebral hypomyelination</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
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||
|
||
<div class="portlet mgSection" id="ID_112">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln clinfeat">
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||
<div class="divPopper rprt" id="rdis_78641"><div><strong>Adenylosuccinate lyase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78641</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.">C0268126</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Adenylosuccinase deficiency is an autosomal recessive inborn error of metabolism caused by an enzymatic defect in de novo purine synthesis (DNPS) pathway. ADSL deficiency leads to the accumulation of toxic intermediates, including succinyladenosine (S-Ado) and succinylaminoimidazole carboxamide riboside (SAICAr) in body fluids. There are 3 major phenotypic forms of the disorder that correlate with different values of the S-Ado and SAICAr concentration ratios (S-Ado/SAICAr) in the cerebrospinal fluid. These include the most severe fatal neonatal encephalopathy (S-Ado/SAICAr ratio less than 1); childhood form (type I) with severe psychomotor retardation (S-Ado/SAICAr ratio close to 1), and a milder form (type II) with psychomotor retardation or hypotonia (S-Ado/SAICAr ratio greater than 2) (summary by Baresova et al., 2012).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78641">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_325157"><div><strong>Hypomyelinating leukodystrophy 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>325157</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.">C1837355</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Pelizaeus-Merzbacher-like disease 1 (PMLD1) is a slowly progressive leukodystrophy that typically presents during the neonatal or early-infantile period with nystagmus, commonly associated with hypotonia, delayed acquisition of motor milestones, speech delay, and dysarthria. Over time the hypotonia typically evolves into spasticity that affects the ability to walk and communicate. Cerebellar signs (gait ataxia, dysmetria, intention tremor, head titubation, and dysdiadochokinesia) frequently manifest during childhood. Some individuals develop extrapyramidal movement abnormalities (choreoathetosis and dystonia). Hearing loss and optic atrophy are observed in rare cases. Motor impairments can lead to swallowing difficulty and orthopedic complications, including hip dislocation and scoliosis. Most individuals have normal cognitive skills or mild intellectual disability – which, however, can be difficult to evaluate in the context of profound motor impairment.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/325157">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_436642"><div><strong>Hypomyelinating leukodystrophy 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>436642</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.">C2676244</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">TUBB4A-related leukodystrophy comprises a phenotypic spectrum in which the MRI findings range from hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) at the severe end to isolated hypomyelination at the mild end. Progressive neurologic findings reflect involvement of the pyramidal tracts (spasticity, brisk deep tendon reflexes, and Babinski sign), extrapyramidal system (rigidity, dystonia, choreoathetosis, oculogyric crisis, and perioral dyskinesia), cerebellum (ataxia, intention tremor, dysmetria), and bulbar function (dysarthria, dysphonia, and swallowing). Cognition is variably affected, usually less severely than motor function. Typically, those with H-ABC present in early childhood (ages 1-3 years) and those with isolated hypomyelination in later childhood or adulthood. The rate of progression varies with disease severity.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/436642">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_436917"><div><strong>Developmental and epileptic encephalopathy, 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>436917</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.">C2677326</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">STXBP1 encephalopathy with epilepsy is characterized by early-onset developmental delay, intellectual disability or cognitive dysfunction, and epilepsy. The median age of onset of seizures is six weeks (range: 1 day to 13 years). Seizure types can include infantile spasms; generalized tonic-clonic, clonic, or tonic seizures; and myoclonic, atonic, absence, and focal seizures. EEG abnormalities can include focal epileptic activity, burst suppression, hypsarrhythmia, or generalized spike-and-slow waves. Other neurologic findings include abnormal tone, movement disorders (especially ataxia and dystonia), and behavioral issues and autism spectrum disorder. Feeding difficulties are common.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/436917">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_398476"><div><strong>Waardenburg syndrome type 2E</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>398476</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2700405</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Waardenburg syndrome type 2 (WS2) is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; and the absence of 'dystopia canthorum,' the lateral displacement of the inner canthus of each eye, which is seen in some other forms of WS (review by Read and Newton, 1997). Individuals with WS type 2E (WS2E) may have neurologic abnormalities, including mental impairment, myelination defects, and ataxia. Waardenburg syndrome type 2 is genetically heterogeneous (see WS2A, 193510). For a description of other clinical variants of Waardenburg syndrome, see WS1 (193500), WS3 (148820), and WS4 (277580).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/398476">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_414492"><div><strong>Developmental and epileptic encephalopathy, 39</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>414492</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.">C2751855</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Developmental and epileptic encephalopathy-39 with leukodystrophy (DEE39) is an autosomal recessive neurologic syndrome characterized clinically by global developmental delay apparent in early infancy, early-onset seizures, hypotonia with poor motor function, and hypomyelination on brain imaging. Other features include absent speech and inability to walk; spasticity and hyperreflexia has also been reported. Although there is significant hypomyelination on brain imaging, the disorder was not classified as a primary leukodystrophy. The myelination defect was thought to stem from primary neuronal dysfunction due to impaired mitochondrial transport activity (summary by Wibom et al., 2009 and Falk et al., 2014). However, serial brain imaging in a patient with DEE39 by Kavanaugh et al. (2019) suggested that the mechanism of disease is consistent with a leukoaxonopathy type of leukodystrophy. For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/414492">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_482274"><div><strong>Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>482274</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.">C3280644</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">POLR3-related leukodystrophy, a hypomyelinating leukodystrophy with specific features on brain MRI, is characterized by varying combinations of four major clinical findings: Neurologic dysfunction, typically predominated by motor dysfunction (progressive cerebellar dysfunction, and to a lesser extent extrapyramidal [i.e., dystonia], pyramidal [i.e., spasticity] and cognitive dysfunctions). Abnormal dentition (delayed dentition, hypodontia, oligodontia, and abnormally placed or shaped teeth). Endocrine abnormalities such as short stature (in ~50% of individuals) with or without growth hormone deficiency, and more commonly, hypogonadotropic hypogonadism manifesting as delayed, arrested, or absent puberty. Ocular abnormality in the form of myopia, typically progressing over several years and becoming severe. POLR3-related leukodystrophy and 4H leukodystrophy are the two recognized terms for five previously described overlapping clinical phenotypes (initially described as distinct entities before their molecular basis was known). These include: Hypomyelination, hypodontia, hypogonadotropic hypogonadism (4H syndrome); Ataxia, delayed dentition, and hypomyelination (ADDH); Tremor-ataxia with central hypomyelination (TACH); Leukodystrophy with oligodontia (LO); Hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum (HCAHC). Age of onset is typically in early childhood but later-onset cases have also been reported. An infant with Wiedemann-Rautenstrauch syndrome (neonatal progeroid syndrome) was recently reported to have pathogenic variants in POLR3A on exome sequencing. Confirmation of this as a very severe form of POLR3-related leukodystrophy awaits replication in other individuals with a clinical diagnosis of Wiedemann-Rautenstrauch syndrome.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/482274">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_812964"><div><strong>Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>812964</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.">C3806634</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Deafness, dystonia, and cerebral hypomyelination is an X-linked recessive mental retardation syndrome characterized by almost no psychomotor development, dysmorphic facial features, sensorineural deafness, dystonia, pyramidal signs, and hypomyelination on brain imaging (summary by Cacciagli et al., 2013).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/812964">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_905068"><div><strong>Hypomyelinating leukodystrophy 12</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>905068</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.">C4225247</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypomyelinating leukodystrophy-12 (HLD12) is an autosomal recessive neurologic disorder characterized by severely delayed or even lack of psychomotor development that becomes apparent in the first months of life. Patients are markedly disabled, with acquired microcephaly, lack of speech, and often lack of spontaneous movement due to hypotonia and spasticity. Brain imaging shows delayed myelination (summary by Edvardson et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see 312080. In a review of the pathogenesis of disorders with prominent dystonia or opisthotonic posturing as a feature, Monfrini et al. (2021) classified HLD12 as belonging to a group of neurologic disorders termed 'HOPS-associated neurologic disorders (HOPSANDs), which are caused by mutations in genes encoding various components of the autophagic/endolysosomal system, including VPS11.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/905068">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934613"><div><strong>Lissencephaly 8</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934613</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.">C4310646</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Lissencephaly-8 (LIS8) is an autosomal recessive neurologic disorder characterized by delayed psychomotor development, intellectual disability with poor or absent speech, early-onset refractory seizures, and hypotonia. Brain imaging shows variable features, including cortical gyral abnormalities and hypoplasia of the corpus callosum, brainstem, and cerebellum (Jerber et al., 2016). For a general description and a discussion of genetic heterogeneity lissencephaly, see LIS1 (607432).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934613">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1684142"><div><strong>Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1684142</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.">C5193057</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination (NEDMEHM) is an autosomal recessive neurometabolic disorder characterized by these cardinal features. Patients also show an exaggerated startle reflex in early infancy (Rodan et al., 2018).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1684142">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1830482"><div><strong>Leukoencephalopathy with vanishing white matter 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1830482</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.">C5779972</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Childhood ataxia with central nervous system hypomyelination / vanishing white matter (CACH/VWM) is characterized by ataxia, spasticity, and variable optic atrophy. The phenotypic range includes a prenatal/congenital form, a subacute infantile form (onset age <1 year), an early childhood-onset form (onset age 1 to <4 years), a late childhood-/juvenile-onset form (onset age 4 to <18 years), and an adult-onset form (onset =18 years). The prenatal/congenital form is characterized by severe encephalopathy. In the later-onset forms initial motor and intellectual development is normal or mildly delayed, followed by neurologic deterioration with a chronic progressive or subacute course. While in childhood-onset forms motor deterioration dominates, in adult-onset forms cognitive decline and personality changes dominate. Chronic progressive decline can be exacerbated by rapid deterioration during febrile illnesses or following head trauma or major surgical procedures, or by acute and extreme fright.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1830482">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_78641" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Adenylosuccinate lyase deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_414492" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental and epileptic encephalopathy, 39</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_436917" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental and epileptic encephalopathy, 4</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_905068" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypomyelinating leukodystrophy 12</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_325157" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypomyelinating leukodystrophy 2</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (12)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_436642" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypomyelinating leukodystrophy 6</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_482274" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1830482" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Leukoencephalopathy with vanishing white matter 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934613" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lissencephaly 8</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1684142" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_812964" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_398476" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Waardenburg syndrome type 2E</a></div></span></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/25631096">SPTAN1 encephalopathy: distinct phenotypes and genotypes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tohyama J,
|
||
Nakashima M,
|
||
Nabatame S,
|
||
Gaik-Siew C,
|
||
Miyata R,
|
||
Rener-Primec Z,
|
||
Kato M,
|
||
Matsumoto N,
|
||
Saitsu H</span><br />
|
||
<span class="medgenPMjournal">J Hum Genet</span>
|
||
2015 Apr;60(4):167-73.
|
||
Epub 2015 Jan 29
|
||
doi: 10.1038/jhg.2015.5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25631096" target="_blank">25631096</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22cerebral%20hypomyelination%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (1)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32532876">A recurrent de novo HSPD1 variant is associated with hypomyelinating leukodystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cömert C,
|
||
Brick L,
|
||
Ang D,
|
||
Palmfeldt J,
|
||
Meaney BF,
|
||
Kozenko M,
|
||
Georgopoulos C,
|
||
Fernandez-Guerra P,
|
||
Bross P</span><br />
|
||
<span class="medgenPMjournal">Cold Spring Harb Mol Case Stud</span>
|
||
2020 Jun;6(3)
|
||
Epub 2020 Jun 12
|
||
doi: 10.1101/mcs.a004879.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32532876" target="_blank">32532876</a><a href="/pmc/articles/PMC7304351" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22036171">Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Saitsu H,
|
||
Osaka H,
|
||
Sasaki M,
|
||
Takanashi J,
|
||
Hamada K,
|
||
Yamashita A,
|
||
Shibayama H,
|
||
Shiina M,
|
||
Kondo Y,
|
||
Nishiyama K,
|
||
Tsurusaki Y,
|
||
Miyake N,
|
||
Doi H,
|
||
Ogata K,
|
||
Inoue K,
|
||
Matsumoto N</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2011 Nov 11;89(5):644-51.
|
||
Epub 2011 Oct 27
|
||
doi: 10.1016/j.ajhg.2011.10.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22036171" target="_blank">22036171</a><a href="/pmc/articles/PMC3213392" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20493457">Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Saitsu H,
|
||
Tohyama J,
|
||
Kumada T,
|
||
Egawa K,
|
||
Hamada K,
|
||
Okada I,
|
||
Mizuguchi T,
|
||
Osaka H,
|
||
Miyata R,
|
||
Furukawa T,
|
||
Haginoya K,
|
||
Hoshino H,
|
||
Goto T,
|
||
Hachiya Y,
|
||
Yamagata T,
|
||
Saitoh S,
|
||
Nagai T,
|
||
Nishiyama K,
|
||
Nishimura A,
|
||
Miyake N,
|
||
Komada M,
|
||
Hayashi K,
|
||
Hirai S,
|
||
Ogata K,
|
||
Kato M,
|
||
Fukuda A,
|
||
Matsumoto N</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2010 Jun 11;86(6):881-91.
|
||
Epub 2010 May 20
|
||
doi: 10.1016/j.ajhg.2010.04.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20493457" target="_blank">20493457</a><a href="/pmc/articles/PMC3032058" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19625339">Natural history of adult-onset eIF2B-related disorders: a multi-centric survey of 16 cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Labauge P,
|
||
Horzinski L,
|
||
Ayrignac X,
|
||
Blanc P,
|
||
Vukusic S,
|
||
Rodriguez D,
|
||
Mauguiere F,
|
||
Peter L,
|
||
Goizet C,
|
||
Bouhour F,
|
||
Denier C,
|
||
Confavreux C,
|
||
Obadia M,
|
||
Blanc F,
|
||
de Sèze J,
|
||
Fogli A,
|
||
Boespflug-Tanguy O</span><br />
|
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<span class="medgenPMjournal">Brain</span>
|
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2009 Aug;132(Pt 8):2161-9.
|
||
doi: 10.1093/brain/awp171.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19625339" target="_blank">19625339</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18065176">Early onset West syndrome with cerebral hypomyelination and reduced cerebral white matter.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tohyama J,
|
||
Akasaka N,
|
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Osaka H,
|
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Maegaki Y,
|
||
Kato M,
|
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Saito N,
|
||
Yamashita S,
|
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Ohno K</span><br />
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<span class="medgenPMjournal">Brain Dev</span>
|
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2008 May;30(5):349-55.
|
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Epub 2007 Dec 11
|
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doi: 10.1016/j.braindev.2007.10.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18065176" target="_blank">18065176</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cerebral%20hypomyelination%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (9)</a></div><h3 class="subhead">Diagnosis</h3>
|
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<div class="nl"><a target="_blank" href="/pubmed/39442041">Neurodevelopmental Disorder Caused by Deletion of CHASERR, a lncRNA Gene.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Ganesh VS,
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Riquin K,
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Chatron N,
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Yoon E,
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Lamar KM,
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Aziz MC,
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Monin P,
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O'Leary MC,
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Goodrich JK,
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Garimella KV,
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England E,
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Weisburd B,
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Aguet F,
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Bacino CA,
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Murdock DR,
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Dai H,
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Rosenfeld JA,
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Emrick LT,
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Ketkar S,
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Sarusi Y,
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Sanlaville D,
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Kayani S,
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Broadbent B,
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Pengam A,
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Isidor B,
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Bezieau S,
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Cogné B,
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MacArthur DG,
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Ulitsky I,
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Carvill GL,
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O'Donnell-Luria A</span><br />
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<span class="medgenPMjournal">N Engl J Med</span>
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2024 Oct 24;391(16):1511-1518.
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doi: 10.1056/NEJMoa2400718.
|
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<span class="bold">PMID: </span><a href="/pubmed/39442041" target="_blank">39442041</a><a href="/pmc/articles/PMC11826417" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32532876">A recurrent de novo HSPD1 variant is associated with hypomyelinating leukodystrophy.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Cömert C,
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Brick L,
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Ang D,
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Palmfeldt J,
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Meaney BF,
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Kozenko M,
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Georgopoulos C,
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Fernandez-Guerra P,
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Bross P</span><br />
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<span class="medgenPMjournal">Cold Spring Harb Mol Case Stud</span>
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2020 Jun;6(3)
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Epub 2020 Jun 12
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doi: 10.1101/mcs.a004879.
|
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<span class="bold">PMID: </span><a href="/pubmed/32532876" target="_blank">32532876</a><a href="/pmc/articles/PMC7304351" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31953925">Possible mitochondrial dysfunction in a patient with deafness, dystonia, and cerebral hypomyelination (DDCH) due to BCAP31 Mutation.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Shimizu K,
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Oba D,
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Nambu R,
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Tanaka M,
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Oguma E,
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Murayama K,
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Ohtake A,
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Yoshiura KI,
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Ohashi H</span><br />
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<span class="medgenPMjournal">Mol Genet Genomic Med</span>
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2020 Mar;8(3):e1129.
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Epub 2020 Jan 17
|
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doi: 10.1002/mgg3.1129.
|
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<span class="bold">PMID: </span><a href="/pubmed/31953925" target="_blank">31953925</a><a href="/pmc/articles/PMC7057082" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30740813">Cerebral hypomyelination associated with biallelic variants of FIG4.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lenk GM,
|
||
Berry IR,
|
||
Stutterd CA,
|
||
Blyth M,
|
||
Green L,
|
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Vadlamani G,
|
||
Warren D,
|
||
Craven I,
|
||
Fanjul-Fernandez M,
|
||
Rodriguez-Casero V,
|
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Lockhart PJ,
|
||
Vanderver A,
|
||
Simons C,
|
||
Gibb S,
|
||
Sadedin S;
|
||
Broad Center for Mendelian Genomics,
|
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White SM,
|
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Christodoulou J,
|
||
Skibina O,
|
||
Ruddle J,
|
||
Tan TY,
|
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Leventer RJ,
|
||
Livingston JH,
|
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Meisler MH</span><br />
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<span class="medgenPMjournal">Hum Mutat</span>
|
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2019 May;40(5):619-630.
|
||
Epub 2019 Feb 28
|
||
doi: 10.1002/humu.23720.
|
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<span class="bold">PMID: </span><a href="/pubmed/30740813" target="_blank">30740813</a><a href="/pmc/articles/PMC6467804" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25631096">SPTAN1 encephalopathy: distinct phenotypes and genotypes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tohyama J,
|
||
Nakashima M,
|
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Nabatame S,
|
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Gaik-Siew C,
|
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Miyata R,
|
||
Rener-Primec Z,
|
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Kato M,
|
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Matsumoto N,
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Saitsu H</span><br />
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<span class="medgenPMjournal">J Hum Genet</span>
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2015 Apr;60(4):167-73.
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Epub 2015 Jan 29
|
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doi: 10.1038/jhg.2015.5.
|
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<span class="bold">PMID: </span><a href="/pubmed/25631096" target="_blank">25631096</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cerebral%20hypomyelination%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 (21)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/16707859">Effective treatment with levodopa and carbidopa for hypomyelination with atrophy of the basal ganglia and cerebellum.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wakusawa K,
|
||
Haginoya K,
|
||
Kitamura T,
|
||
Togashi N,
|
||
Ishitobi M,
|
||
Yokoyama H,
|
||
Higano S,
|
||
Onuma A,
|
||
Nara T,
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Iinuma K</span><br />
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<span class="medgenPMjournal">Tohoku J Exp Med</span>
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2006 Jun;209(2):163-7.
|
||
doi: 10.1620/tjem.209.163.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16707859" target="_blank">16707859</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16429277">Clinical manifestations and neurodevelopmental outcome following an event of accidental intramuscular injection of atracurium in newborns.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hsieh WS,
|
||
Huang HM,
|
||
Peng S,
|
||
Liang JS,
|
||
Leung C,
|
||
Yeh GC,
|
||
Huang CC,
|
||
Jeng SF</span><br />
|
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<span class="medgenPMjournal">Eur J Pediatr</span>
|
||
2006 Jun;165(6):361-6.
|
||
Epub 2006 Jan 21
|
||
doi: 10.1007/s00431-005-0063-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16429277" target="_blank">16429277</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cerebral%20hypomyelination%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (2)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33439541">AIFM1-associated X-linked spondylometaphyseal dysplasia with cerebral hypomyelination.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Edgerley K,
|
||
Barnicoat A,
|
||
Offiah AC,
|
||
Calder AD,
|
||
Mankad K,
|
||
Thomas NS,
|
||
Bunyan DJ,
|
||
Williams M,
|
||
Buxton C,
|
||
Majumdar A,
|
||
Vijayakumar K,
|
||
Hilliard T,
|
||
Turner J,
|
||
Burren CP,
|
||
Monsell F,
|
||
Smithson SF</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2021 Apr;185(4):1228-1235.
|
||
Epub 2021 Jan 13
|
||
doi: 10.1002/ajmg.a.62072.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33439541" target="_blank">33439541</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19625339">Natural history of adult-onset eIF2B-related disorders: a multi-centric survey of 16 cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Labauge P,
|
||
Horzinski L,
|
||
Ayrignac X,
|
||
Blanc P,
|
||
Vukusic S,
|
||
Rodriguez D,
|
||
Mauguiere F,
|
||
Peter L,
|
||
Goizet C,
|
||
Bouhour F,
|
||
Denier C,
|
||
Confavreux C,
|
||
Obadia M,
|
||
Blanc F,
|
||
de Sèze J,
|
||
Fogli A,
|
||
Boespflug-Tanguy O</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2009 Aug;132(Pt 8):2161-9.
|
||
doi: 10.1093/brain/awp171.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19625339" target="_blank">19625339</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18851904">Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sasaki M,
|
||
Takanashi J,
|
||
Tada H,
|
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Sakuma H,
|
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Furushima W,
|
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Sato N</span><br />
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<span class="medgenPMjournal">Brain Dev</span>
|
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2009 Sep;31(8):582-7.
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||
Epub 2008 Oct 11
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||
doi: 10.1016/j.braindev.2008.09.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18851904" target="_blank">18851904</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16707859">Effective treatment with levodopa and carbidopa for hypomyelination with atrophy of the basal ganglia and cerebellum.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wakusawa K,
|
||
Haginoya K,
|
||
Kitamura T,
|
||
Togashi N,
|
||
Ishitobi M,
|
||
Yokoyama H,
|
||
Higano S,
|
||
Onuma A,
|
||
Nara T,
|
||
Iinuma K</span><br />
|
||
<span class="medgenPMjournal">Tohoku J Exp Med</span>
|
||
2006 Jun;209(2):163-7.
|
||
doi: 10.1620/tjem.209.163.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16707859" target="_blank">16707859</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16429277">Clinical manifestations and neurodevelopmental outcome following an event of accidental intramuscular injection of atracurium in newborns.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hsieh WS,
|
||
Huang HM,
|
||
Peng S,
|
||
Liang JS,
|
||
Leung C,
|
||
Yeh GC,
|
||
Huang CC,
|
||
Jeng SF</span><br />
|
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<span class="medgenPMjournal">Eur J Pediatr</span>
|
||
2006 Jun;165(6):361-6.
|
||
Epub 2006 Jan 21
|
||
doi: 10.1007/s00431-005-0063-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16429277" target="_blank">16429277</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cerebral%20hypomyelination%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 (5)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32544203">yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Blanco-Sánchez B,
|
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Clément A,
|
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Stednitz SJ,
|
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Kyle J,
|
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Peirce JL,
|
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McFadden M,
|
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Wegner J,
|
||
Phillips JB,
|
||
Macnamara E,
|
||
Huang Y,
|
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Adams DR,
|
||
Toro C,
|
||
Gahl WA,
|
||
Malicdan MCV,
|
||
Tifft CJ,
|
||
Zink EM,
|
||
Bloodsworth KJ,
|
||
Stratton KG;
|
||
Undiagnosed Diseases Network,
|
||
Koeller DM,
|
||
Metz TO,
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Washbourne P,
|
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Westerfield M</span><br />
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<span class="medgenPMjournal">PLoS Genet</span>
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||
2020 Jun;16(6):e1008841.
|
||
Epub 2020 Jun 16
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||
doi: 10.1371/journal.pgen.1008841.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32544203" target="_blank">32544203</a><a href="/pmc/articles/PMC7319359" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30740813">Cerebral hypomyelination associated with biallelic variants of FIG4.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lenk GM,
|
||
Berry IR,
|
||
Stutterd CA,
|
||
Blyth M,
|
||
Green L,
|
||
Vadlamani G,
|
||
Warren D,
|
||
Craven I,
|
||
Fanjul-Fernandez M,
|
||
Rodriguez-Casero V,
|
||
Lockhart PJ,
|
||
Vanderver A,
|
||
Simons C,
|
||
Gibb S,
|
||
Sadedin S;
|
||
Broad Center for Mendelian Genomics,
|
||
White SM,
|
||
Christodoulou J,
|
||
Skibina O,
|
||
Ruddle J,
|
||
Tan TY,
|
||
Leventer RJ,
|
||
Livingston JH,
|
||
Meisler MH</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
2019 May;40(5):619-630.
|
||
Epub 2019 Feb 28
|
||
doi: 10.1002/humu.23720.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30740813" target="_blank">30740813</a><a href="/pmc/articles/PMC6467804" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25631096">SPTAN1 encephalopathy: distinct phenotypes and genotypes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tohyama J,
|
||
Nakashima M,
|
||
Nabatame S,
|
||
Gaik-Siew C,
|
||
Miyata R,
|
||
Rener-Primec Z,
|
||
Kato M,
|
||
Matsumoto N,
|
||
Saitsu H</span><br />
|
||
<span class="medgenPMjournal">J Hum Genet</span>
|
||
2015 Apr;60(4):167-73.
|
||
Epub 2015 Jan 29
|
||
doi: 10.1038/jhg.2015.5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25631096" target="_blank">25631096</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18065176">Early onset West syndrome with cerebral hypomyelination and reduced cerebral white matter.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tohyama J,
|
||
Akasaka N,
|
||
Osaka H,
|
||
Maegaki Y,
|
||
Kato M,
|
||
Saito N,
|
||
Yamashita S,
|
||
Ohno K</span><br />
|
||
<span class="medgenPMjournal">Brain Dev</span>
|
||
2008 May;30(5):349-55.
|
||
Epub 2007 Dec 11
|
||
doi: 10.1016/j.braindev.2007.10.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18065176" target="_blank">18065176</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15472431">Childhood ataxia with cerebral hypomyelination (CACH) syndrome: a study of three siblings.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vaidya SR,
|
||
Desai SB,
|
||
Khadilkar SV,
|
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Mehta NA</span><br />
|
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<span class="medgenPMjournal">Neurol India</span>
|
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2004 Sep;52(3):372-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15472431" target="_blank">15472431</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cerebral%20hypomyelination%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 (7)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C2677328%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (10)</a></li>
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<li><a href="/gtr/tests?term=C2677328%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (10)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C2677328%5bDISCUI%5d" target="_blank">See all (10)</a></total></li>
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