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<meta name="keywords" content="C0023520, degeneration of white matter of brain, disease or syndrome, hld, hypomyelinating leukodystrophy, hypomyelinating leukoencephalopathy, leukodystrophy, leukodystrophy, hypomyelinating, metachromatic leukodystrophy variant, 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="Leukodystrophy refers to deterioration of white matter of the brain resulting from degeneration of myelin sheaths in the CNS. Their basic defect is directly related to the synthesis and maintenance of myelin membranes. Symmetric white matter involvement at MRI is a typical finding in patients with leukodystrophies." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=6070
|
||
ConceptID=C0023520
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Leukodystrophy</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6070</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0023520</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Hypomyelinating leukodystrophy; Metachromatic leukodystrophy variant</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Leukodystrophy (192781003)</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:0002415">HP:0002415</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0019046" target="_blank">MONDO:0019046</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span> Phenotypic series:</td>
|
||
<td><a href="https://omim.org/phenotypicSeries/PS312080" target="_blank">PS312080</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=68356">ORPHA68356</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">Leukodystrophy refers to deterioration of white matter of the brain resulting from degeneration of myelin sheaths in the CNS. Their basic defect is directly related to the synthesis and maintenance of myelin membranes. Symmetric white matter involvement at MRI is a typical finding in patients with leukodystrophies. [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><li><a href="#tabORDO">Orphanet</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=C0023520[DISCUI]&test_type=Clinical" ref="ncbi_uid=6070">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C0023520[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=6070">R</a></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=6070" ref="ncbi_uid=6070">V</a></span></span><span class="TLline">Leukodystrophy</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1254" ref="tree=MeSH" title="MedGen record for Fetal anomaly">Fetal anomaly</a></span><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="matched_ds">Leukodystrophy</span><ul><li><span class="TLline"><a href="/medgen/57667" ref="tree=MeSH" title="MedGen record for Adrenoleukodystrophy">Adrenoleukodystrophy</a></span><ul><li><span class="TLline"><a href="/medgen/315918" ref="tree=MeSH" title="MedGen record for Adrenomyeloneuropathy">Adrenomyeloneuropathy</a></span></li><li><span class="TLline"><a href="/medgen/1641046" ref="tree=MeSH" title="MedGen record for Cerebral Adrenoleukodystrophy">Cerebral Adrenoleukodystrophy</a></span></li><li><span class="TLline"><a href="/medgen/1708324" ref="tree=MeSH" title="MedGen record for X-linked cerebral adrenoleukodystrophy">X-linked cerebral adrenoleukodystrophy</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/356995" ref="tree=MeSH" title="MedGen record for Adult-onset autosomal dominant demyelinating leukodystrophy">Adult-onset autosomal dominant demyelinating leukodystrophy</a></span></li><li><span class="TLline"><a href="/medgen/97953" ref="tree=MeSH" title="MedGen record for Aicardi Goutieres syndrome">Aicardi Goutieres syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/162912" ref="tree=MeSH" title="MedGen record for Aicardi-Goutieres syndrome 1">Aicardi-Goutieres syndrome 1</a></span><ul><li><span class="TLline"><a href="/medgen/461665" ref="tree=MeSH" title="MedGen record for Aicardi-Goutieres syndrome 1, autosomal dominant">Aicardi-Goutieres syndrome 1, autosomal dominant</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/483677" ref="tree=MeSH" title="MedGen record for Aicardi-Goutieres syndrome 2">Aicardi-Goutieres syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/324389" ref="tree=MeSH" title="MedGen record for Aicardi-Goutieres syndrome 3">Aicardi-Goutieres syndrome 3</a></span></li><li><span class="TLline"><a href="/medgen/332084" ref="tree=MeSH" title="MedGen record for Aicardi-Goutieres syndrome 4">Aicardi-Goutieres syndrome 4</a></span></li><li><span class="TLline"><a href="/medgen/413116" ref="tree=MeSH" title="MedGen record for Aicardi-Goutieres syndrome 5">Aicardi-Goutieres syndrome 5</a></span></li><li><span class="TLline"><a href="/medgen/761287" ref="tree=MeSH" title="MedGen record for Aicardi-Goutieres syndrome 6">Aicardi-Goutieres syndrome 6</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/78724" ref="tree=MeSH" title="MedGen record for Alexander disease">Alexander disease</a></span><ul><li><span class="TLline"><a href="/medgen/1820954" ref="tree=MeSH" title="MedGen record for Alexander disease type I">Alexander disease type I</a></span></li><li><span class="TLline"><a href="/medgen/1842714" ref="tree=MeSH" title="MedGen record for Alexander disease type II">Alexander disease type II</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1622324" ref="tree=MeSH" title="MedGen record for Alkaline ceramidase 3 deficiency">Alkaline ceramidase 3 deficiency</a></span></li><li><span class="TLline"><a href="/medgen/1798879" ref="tree=MeSH" title="MedGen record for C11orf73-related autosomal recessive hypomyelinating leukodystrophy">C11orf73-related autosomal recessive hypomyelinating leukodystrophy</a></span></li><li><span class="TLline"><a href="/medgen/507284" ref="tree=MeSH" title="MedGen record for CADDS">CADDS</a></span></li><li><span class="TLline"><a href="/medgen/542952" ref="tree=MeSH" title="MedGen record for Cavitating leukodystrophy">Cavitating leukodystrophy</a></span></li><li><span class="TLline"><a href="/medgen/116041" ref="tree=MeSH" title="MedGen record for Cholestanol storage disease">Cholestanol storage disease</a></span></li><li><span class="TLline"><a href="/medgen/416646" ref="tree=MeSH" title="MedGen record for Cystic leukoencephalopathy without megalencephaly">Cystic leukoencephalopathy without megalencephaly</a></span></li><li><span class="TLline"><a href="/medgen/220946" ref="tree=MeSH" title="MedGen record for Deficiency of ribose-5-phosphate isomerase">Deficiency of ribose-5-phosphate isomerase</a></span></li><li><span class="TLline"><a href="/medgen/387794" ref="tree=MeSH" title="MedGen record for Dermatoleukodystrophy">Dermatoleukodystrophy</a></span></li><li><span class="TLline"><a href="/medgen/479834" ref="tree=MeSH" title="MedGen record for Dysmyelinating leukodystrophy">Dysmyelinating leukodystrophy</a></span></li><li><span class="TLline"><a href="/medgen/1805057" ref="tree=MeSH" title="MedGen record for Early-onset calcifying leukoencephalopathy-skeletal dysplasia">Early-onset calcifying leukoencephalopathy-skeletal dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/44131" ref="tree=MeSH" title="MedGen record for Galactosylceramide beta-galactosidase deficiency">Galactosylceramide beta-galactosidase deficiency</a></span><ul><li><span class="TLline"><a href="/medgen/120623" ref="tree=MeSH" title="MedGen record for Adult Krabbe disease">Adult Krabbe disease</a></span></li><li><span class="TLline"><a href="/medgen/148270" ref="tree=MeSH" title="MedGen record for Infantile Krabbe disease">Infantile Krabbe disease</a></span></li><li><span class="TLline"><a href="/medgen/830969" ref="tree=MeSH" title="MedGen record for Late-infantile/juvenile Krabbe disease">Late-infantile/juvenile Krabbe disease</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/374177" ref="tree=MeSH" title="MedGen record for Hereditary spastic paraplegia 2">Hereditary spastic paraplegia 2</a></span></li><li><span class="TLline"><a href="/medgen/436642" ref="tree=MeSH" title="MedGen record for Hypomyelinating leukodystrophy 6">Hypomyelinating leukodystrophy 6</a></span></li><li><span class="TLline"><a href="/medgen/863760" ref="tree=MeSH" title="MedGen record for Hypomyelinating leukodystrophy 9">Hypomyelinating leukodystrophy 9</a></span></li><li><span class="TLline"><a href="/medgen/905068" ref="tree=MeSH" title="MedGen record for Hypomyelinating leukodystrophy 12">Hypomyelinating leukodystrophy 12</a></span></li><li><span class="TLline"><a href="/medgen/482274" ref="tree=MeSH" title="MedGen record for Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism">Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism</a></span></li><li><span class="TLline"><a href="/medgen/501134" ref="tree=MeSH" title="MedGen record for Hypomyelination and Congenital Cataract">Hypomyelination and Congenital Cataract</a></span></li><li><span class="TLline"><a href="/medgen/1667792" ref="tree=MeSH" title="MedGen record for Hypomyelination with brain stem and spinal cord involvement and leg spasticity">Hypomyelination with brain stem and spinal cord involvement and leg spasticity</a></span></li><li><span class="TLline"><a href="/medgen/930413" ref="tree=MeSH" title="MedGen record for Leukoencephalopathy with bilateral anterior temporal lobe cysts">Leukoencephalopathy with bilateral anterior temporal lobe cysts</a></span></li><li><span class="TLline"><a href="/medgen/370845" ref="tree=MeSH" title="MedGen record for Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome">Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1638681" ref="tree=MeSH" title="MedGen record for Leukoencephalopathy with mild cerebellar ataxia and white matter edema">Leukoencephalopathy with mild cerebellar ataxia and white matter edema</a></span></li><li><span class="TLline"><a href="/medgen/1794139" ref="tree=MeSH" title="MedGen record for Leukoencephalopathy, diffuse hereditary, with spheroids 1">Leukoencephalopathy, diffuse hereditary, with spheroids 1</a></span></li><li><span class="TLline"><a href="/medgen/1645614" ref="tree=MeSH" title="MedGen record for Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome">Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome</a></span></li><li><span class="TLline"><a href="/medgen/347006" ref="tree=MeSH" title="MedGen record for Megalencephalic leukoencephalopathy with subcortical cysts">Megalencephalic leukoencephalopathy with subcortical cysts</a></span><ul><li><span class="TLline"><a href="/medgen/1826136" ref="tree=MeSH" title="MedGen record for Megalencephalic leukoencephalopathy with subcortical cysts 1">Megalencephalic leukoencephalopathy with subcortical cysts 1</a></span></li><li><span class="TLline"><a href="/medgen/462705" ref="tree=MeSH" title="MedGen record for Megalencephalic leukoencephalopathy with subcortical cysts 2A">Megalencephalic leukoencephalopathy with subcortical cysts 2A</a></span></li><li><span class="TLline"><a href="/medgen/462706" ref="tree=MeSH" title="MedGen record for Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability">Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/6071" ref="tree=MeSH" title="MedGen record for Metachromatic leukodystrophy">Metachromatic leukodystrophy</a></span><ul><li><span class="TLline"><a href="/medgen/199625" ref="tree=MeSH" title="MedGen record for Metachromatic leukodystrophy, adult type">Metachromatic leukodystrophy, adult type</a></span></li><li><span class="TLline"><a href="/medgen/155528" ref="tree=MeSH" title="MedGen record for Metachromatic leukodystrophy, juvenile type">Metachromatic leukodystrophy, juvenile type</a></span></li><li><span class="TLline"><a href="/medgen/155529" ref="tree=MeSH" title="MedGen record for Metachromatic leukodystrophy, late infantile form">Metachromatic leukodystrophy, late infantile form</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/899010" ref="tree=MeSH" title="MedGen record for Multiple mitochondrial dysfunctions syndrome 4">Multiple mitochondrial dysfunctions syndrome 4</a></span></li><li><span class="TLline"><a href="/medgen/1684142" ref="tree=MeSH" title="MedGen record for Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination">Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination</a></span></li><li><span class="TLline"><a href="/medgen/1806079" ref="tree=MeSH" title="MedGen record for Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy">Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy</a></span></li><li><span class="TLline"><a href="/medgen/373160" ref="tree=MeSH" title="MedGen record for PCWH syndrome">PCWH syndrome</a></span></li><li><span class="TLline"><a href="/medgen/894734" ref="tree=MeSH" title="MedGen record for Pelizaeus Merzbacher like disease">Pelizaeus Merzbacher like disease</a></span><ul><li><span class="TLline"><a href="/medgen/325157" ref="tree=MeSH" title="MedGen record for Hypomyelinating leukodystrophy 2">Hypomyelinating leukodystrophy 2</a></span></li><li><span class="TLline"><a href="/medgen/342403" ref="tree=MeSH" title="MedGen record for Hypomyelinating leukodystrophy 3">Hypomyelinating leukodystrophy 3</a></span></li><li><span class="TLline"><a href="/medgen/383026" ref="tree=MeSH" title="MedGen record for Hypomyelinating leukodystrophy 4">Hypomyelinating leukodystrophy 4</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/61440" ref="tree=MeSH" title="MedGen record for Pelizaeus-Merzbacher disease">Pelizaeus-Merzbacher disease</a></span><ul><li><span class="TLline"><a href="/medgen/1740046" ref="tree=MeSH" title="MedGen record for Null syndrome">Null syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1753109" ref="tree=MeSH" title="MedGen record for Pelizaeus-Merzbacher disease in female carriers">Pelizaeus-Merzbacher disease in female carriers</a></span></li><li><span class="TLline"><a href="/medgen/155959" ref="tree=MeSH" title="MedGen record for Pelizaeus-Merzbacher disease, classic form">Pelizaeus-Merzbacher disease, classic form</a></span></li><li><span class="TLline"><a href="/medgen/1842817" ref="tree=MeSH" title="MedGen record for Pelizaeus-Merzbacher disease, connatal form">Pelizaeus-Merzbacher disease, connatal form</a></span></li><li><span class="TLline"><a href="/medgen/199764" ref="tree=MeSH" title="MedGen record for Pelizaeus-Merzbacher disease, transitional form">Pelizaeus-Merzbacher disease, transitional form</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/330407" ref="tree=MeSH" title="MedGen record for Peroxisome biogenesis disorder">Peroxisome biogenesis disorder</a></span><ul><li><span class="TLline"><a href="/medgen/1648474" ref="tree=MeSH" title="MedGen record for Peroxisome biogenesis disorder 1A (Zellweger)">Peroxisome biogenesis disorder 1A (Zellweger)</a></span></li><li><span class="TLline"><a href="/medgen/1653860" ref="tree=MeSH" title="MedGen record for Peroxisome Biogenesis Disorder 1B">Peroxisome Biogenesis Disorder 1B</a></span></li><li><span class="TLline"><a href="/medgen/763187" ref="tree=MeSH" title="MedGen record for Peroxisome biogenesis disorder 2A (Zellweger)">Peroxisome biogenesis disorder 2A (Zellweger)</a></span></li><li><span class="TLline"><a href="/medgen/763148" ref="tree=MeSH" title="MedGen record for Peroxisome biogenesis disorder 2B">Peroxisome biogenesis disorder 2B</a></span></li><li><span class="TLline"><a href="/medgen/766843" ref="tree=MeSH" title="MedGen record for Peroxisome biogenesis disorder 3A (Zellweger)">Peroxisome biogenesis disorder 3A (Zellweger)</a></span></li><li><span class="TLline"><a href="/medgen/766850" ref="tree=MeSH" title="MedGen record for Peroxisome biogenesis disorder 4A (Zellweger)">Peroxisome biogenesis disorder 4A (Zellweger)</a></span></li><li><span class="TLline"><a href="/medgen/766851" ref="tree=MeSH" title="MedGen record for Peroxisome biogenesis disorder 4B">Peroxisome biogenesis disorder 4B</a></span></li><li><span class="TLline"><a href="/medgen/766854" ref="tree=MeSH" title="MedGen record for Peroxisome biogenesis disorder 5A (Zellweger)">Peroxisome biogenesis disorder 5A (Zellweger)</a></span></li><li><span class="TLline"><a href="/medgen/762202" ref="tree=MeSH" title="MedGen record for Peroxisome biogenesis disorder 5B">Peroxisome biogenesis disorder 5B</a></span></li><li><span class="TLline"><a href="/medgen/766861" ref="tree=MeSH" title="MedGen record for Peroxisome biogenesis disorder 6A (Zellweger)">Peroxisome biogenesis disorder 6A (Zellweger)</a></span></li><li><span class="TLline"><a href="/medgen/766862" ref="tree=MeSH" title="MedGen record for Peroxisome biogenesis disorder 6B">Peroxisome biogenesis disorder 6B</a></span></li><li><span class="TLline"><a href="/medgen/854881" ref="tree=MeSH" title="MedGen record for Peroxisome biogenesis disorder 7A (Zellweger)">Peroxisome biogenesis disorder 7A (Zellweger)</a></span></li><li><span class="TLline"><a href="/medgen/766865" ref="tree=MeSH" title="MedGen record for Peroxisome biogenesis disorder 7B">Peroxisome biogenesis disorder 7B</a></span></li><li><span class="TLline"><a href="/medgen/766873" ref="tree=MeSH" title="MedGen record for Peroxisome biogenesis disorder 8A (Zellweger)">Peroxisome biogenesis disorder 8A (Zellweger)</a></span></li><li><span class="TLline"><a href="/medgen/766874" ref="tree=MeSH" title="MedGen record for Peroxisome biogenesis disorder 8B">Peroxisome biogenesis disorder 8B</a></span></li><li><span class="TLline"><a href="/medgen/763607" ref="tree=MeSH" title="MedGen record for Peroxisome biogenesis disorder type 3B">Peroxisome biogenesis disorder type 3B</a></span></li><li><span class="TLline"><a href="/medgen/772498" ref="tree=MeSH" title="MedGen record for Peroxisome Biogenesis Disorders in the Zellweger Spectrum">Peroxisome Biogenesis Disorders in the Zellweger Spectrum</a></span><ul><li><span class="TLline"><a href="/medgen/129184" ref="tree=MeSH" title="MedGen record for Neonatal adrenoleukodystrophy">Neonatal adrenoleukodystrophy</a></span></li><li><span class="TLline"><a href="/medgen/79470" ref="tree=MeSH" title="MedGen record for Peroxisome biogenesis disorder 1B">Peroxisome biogenesis disorder 1B</a></span></li><li><span class="TLline"><a href="/medgen/21958" ref="tree=MeSH" title="MedGen record for Zellweger spectrum disorders">Zellweger spectrum disorders</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/79471" ref="tree=MeSH" title="MedGen record for Rhizomelic chondrodysplasia punctata">Rhizomelic chondrodysplasia punctata</a></span><ul><li><span class="TLline"><a href="/medgen/347072" ref="tree=MeSH" title="MedGen record for Rhizomelic chondrodysplasia punctata type 1">Rhizomelic chondrodysplasia punctata type 1</a></span></li><li><span class="TLline"><a href="/medgen/341734" ref="tree=MeSH" title="MedGen record for Rhizomelic chondrodysplasia punctata type 2">Rhizomelic chondrodysplasia punctata type 2</a></span></li><li><span class="TLline"><a href="/medgen/374012" ref="tree=MeSH" title="MedGen record for Rhizomelic chondrodysplasia punctata type 3">Rhizomelic chondrodysplasia punctata type 3</a></span></li><li><span class="TLline"><a href="/medgen/900333" ref="tree=MeSH" title="MedGen record for Rhizomelic chondrodysplasia punctata type 5">Rhizomelic chondrodysplasia punctata type 5</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/11161" ref="tree=MeSH" title="MedGen record for Phytanic acid storage disease">Phytanic acid storage disease</a></span></li><li><span class="TLline"><a href="/medgen/1803536" ref="tree=MeSH" title="MedGen record for POLR3-related leukodystrophy">POLR3-related leukodystrophy</a></span><ul><li><span class="TLline"><a href="/medgen/897960" ref="tree=MeSH" title="MedGen record for Hypomyelinating leukodystrophy 11">Hypomyelinating leukodystrophy 11</a></span></li><li><span class="TLline"><a href="/medgen/1842862" ref="tree=MeSH" title="MedGen record for Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome">Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1639554" ref="tree=MeSH" title="MedGen record for Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome">Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome</a></span></li><li><span class="TLline"><a href="/medgen/502456" ref="tree=MeSH" title="MedGen record for Odontoleukodystrophy">Odontoleukodystrophy</a></span></li><li><span class="TLline"><a href="/medgen/1842823" ref="tree=MeSH" title="MedGen record for Tremor-ataxia-central hypomyelination syndrome">Tremor-ataxia-central hypomyelination syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/387795" ref="tree=MeSH" title="MedGen record for Polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly">Polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly</a></span></li><li><span class="TLline"><a href="/medgen/930509" ref="tree=MeSH" title="MedGen record for Progressive cavitating leukoencephalopathy">Progressive cavitating leukoencephalopathy</a></span></li><li><span class="TLline"><a href="/medgen/346552" ref="tree=MeSH" title="MedGen record for Progressive encephalopathy with leukodystrophy due to DECR deficiency">Progressive encephalopathy with leukodystrophy due to DECR deficiency</a></span></li><li><span class="TLline"><a href="/medgen/907744" ref="tree=MeSH" title="MedGen record for Ravine syndrome">Ravine syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1382553" ref="tree=MeSH" title="MedGen record for Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy">Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy</a></span></li><li><span class="TLline"><a href="/medgen/335350" ref="tree=MeSH" title="MedGen record for Spondyloepimetaphyseal dysplasia, Bieganski type">Spondyloepimetaphyseal dysplasia, Bieganski type</a></span></li><li><span class="TLline"><a href="/medgen/1780157" ref="tree=MeSH" title="MedGen record for Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis">Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis</a></span></li><li><span class="TLline"><a href="/medgen/61565" ref="tree=MeSH" title="MedGen record for Spongy degeneration of central nervous system">Spongy degeneration of central nervous system</a></span><ul><li><span class="TLline"><a href="/medgen/865564" ref="tree=MeSH" title="MedGen record for Mild Canavan disease">Mild Canavan disease</a></span></li><li><span class="TLline"><a href="/medgen/1826002" ref="tree=MeSH" title="MedGen record for Severe Canavan disease">Severe Canavan disease</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/462340" ref="tree=MeSH" title="MedGen record for Sterol carrier protein 2 deficiency">Sterol carrier protein 2 deficiency</a></span></li><li><span class="TLline"><a href="/medgen/347037" ref="tree=MeSH" title="MedGen record for Vanishing white matter disease">Vanishing white matter disease</a></span><ul><li><span class="TLline"><a href="/medgen/1842419" ref="tree=MeSH" title="MedGen record for Congenital or early infantile CACH syndrome">Congenital or early infantile CACH syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1826173" ref="tree=MeSH" title="MedGen record for Juvenile or adult CACH syndrome">Juvenile or adult CACH syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1826172" ref="tree=MeSH" title="MedGen record for Late infantile CACH syndrome">Late infantile CACH syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1830482" ref="tree=MeSH" title="MedGen record for Leukoencephalopathy with vanishing white matter 1">Leukoencephalopathy with vanishing white matter 1</a></span></li><li><span class="TLline"><a href="/medgen/1841040" ref="tree=MeSH" title="MedGen record for Leukoencephalopathy with vanishing white matter 2">Leukoencephalopathy with vanishing white matter 2</a></span></li><li><span class="TLline"><a href="/medgen/1841041" ref="tree=MeSH" title="MedGen record for Leukoencephalopathy with vanishing white matter 3">Leukoencephalopathy with vanishing white matter 3</a></span></li><li><span class="TLline"><a href="/medgen/1841042" ref="tree=MeSH" title="MedGen record for Leukoencephalopathy with vanishing white matter 4">Leukoencephalopathy with vanishing white matter 4</a></span></li><li><span class="TLline"><a href="/medgen/1830483" ref="tree=MeSH" title="MedGen record for Leukoencephalopathy with vanishing white matter 5">Leukoencephalopathy with vanishing white matter 5</a></span></li><li><span class="TLline"><a href="/medgen/341114" ref="tree=MeSH" title="MedGen record for Ovarioleukodystrophy">Ovarioleukodystrophy</a></span><ul><li><span class="TLline"><a href="/medgen/863025" ref="tree=MeSH" title="MedGen record for Leukoencephalopathy, progressive, with ovarian failure">Leukoencephalopathy, progressive, with ovarian failure</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=10495&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Leukodystrophy</span> in Orphanet.</div></div></div>
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<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="divPopper rprt" id="rdis_18801"><div><strong>Pyruvate carboxylase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>18801</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.">C0034341</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Pyruvate carboxylase (PC) deficiency is characterized in most affected individuals by failure to gain weight and/or linear growth failure, developmental delay, epilepsy, and metabolic acidosis. Three clinical phenotypes are recognized. Type A (infantile form) is characterized by infantile onset of metabolic and lactic acidosis, delayed motor development, intellectual disability, poor linear growth and/or weight gain, and neurologic findings (apathy, hypotonia, pyramidal and extrapyramidal signs, ataxia, and seizures). Brain anomalies can be noted. Most affected children die in infancy or early childhood. Type B (severe neonatal form) is characterized by neonatal or infantile onset of hypothermia, respiratory distress/failure, vomiting, severe lactic acidosis, hyperammonemia, and often hypoglycemia. Neurologic findings include brain abnormalities, lethargy, hypotonia, and pyramidal and extrapyramidal signs. Death typically occurs by age eight months. Type C (intermittent/attenuated form) is characterized by relatively normal or mildly delayed neurologic development, motor and/or gait abnormalities, (rarely) seizures, episodic movement disorders, and metabolic acidosis. Life span is unknown but survival into adulthood has been reported.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/18801">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_75550"><div><strong>DE SANCTIS-CACCHIONE SYNDROME</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75550</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.">C0265201</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">A rare autosomal recessive inherited syndrome. It is characterized by xeroderma pigmentosum, mental retardation, dwarfism, hypogonadism, and neurologic abnormalities.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/75550">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_79470"><div><strong>Peroxisome biogenesis disorder 1B</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>79470</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.">C0282527</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Zellweger spectrum disorder (ZSD) is a phenotypic continuum ranging from severe to mild. While individual phenotypes (e.g., Zellweger syndrome [ZS], neonatal adrenoleukodystrophy [NALD], and infantile Refsum disease [IRD]) were described in the past before the biochemical and molecular bases of this spectrum were fully determined, the term "ZSD" is now used to refer to all individuals with a defect in one of the ZSD-PEX genes regardless of phenotype. Individuals with ZSD usually come to clinical attention in the newborn period or later in childhood. Affected newborns are hypotonic and feed poorly. They have distinctive facies, congenital malformations (neuronal migration defects associated with neonatal-onset seizures, renal cysts, and bony stippling [chondrodysplasia punctata] of the patella[e] and the long bones), and liver disease that can be severe. Infants with severe ZSD are significantly impaired and typically die during the first year of life, usually having made no developmental progress. Individuals with intermediate/milder ZSD do not have congenital malformations, but rather progressive peroxisome dysfunction variably manifest as sensory loss (secondary to retinal dystrophy and sensorineural hearing loss), neurologic involvement (ataxia, polyneuropathy, and leukodystrophy), liver dysfunction, adrenal insufficiency, and renal oxalate stones. While hypotonia and developmental delays are typical, intellect can be normal. Some have osteopenia; almost all have ameleogenesis imperfecta in the secondary teeth.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/79470">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_137977"><div><strong>Gamma-aminobutyric acid transaminase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>137977</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.">C0342708</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">GABA-transaminase deficiency (GABATD) is characterized by neonatal or early infantile-onset encephalopathy, hypotonia, hypersomnolence, epilepsy, choreoathetosis, and accelerated linear growth. Electroencephalograms show burst-suppression, modified hypsarrhythmia, multifocal spikes, and generalized spike-wave. Severity varies, but most patients have profound developmental impairment and some patients die in infancy (summary by Koenig et al., 2017).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/137977">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_208645"><div><strong>Allan-Herndon-Dudley syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>208645</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:">C0795889</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Allan-Herndon-Dudley syndrome (AHDS), an X-linked disorder, is characterized in males by neurologic findings (hypotonia and feeding difficulties in infancy, developmental delay / intellectual disability ranging from mild to profound) and later-onset pyramidal signs, extrapyramidal findings (dystonia, choreoathetosis, paroxysmal movement disorder, hypokinesia, masked facies), and seizures, often with drug resistance. Additional findings can include dysthyroidism (manifest as poor weight gain, reduced muscle mass, and variable cold intolerance, sweating, elevated heart rate, and irritability) and pathognomonic thyroid test results. Most heterozygous females are not clinically affected but may have minor thyroid test abnormalities.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/208645">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_332084"><div><strong>Aicardi-Goutieres syndrome 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332084</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.">C1835912</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Most characteristically, Aicardi-Goutières syndrome (AGS) manifests as an early-onset encephalopathy that usually, but not always, results in severe intellectual and physical disability. A subgroup of infants with AGS present at birth with abnormal neurologic findings, hepatosplenomegaly, elevated liver enzymes, and thrombocytopenia, a picture highly suggestive of congenital infection. Otherwise, most affected infants present at variable times after the first few weeks of life, frequently after a period of apparently normal development. Typically, they demonstrate the subacute onset of a severe encephalopathy characterized by extreme irritability, intermittent sterile pyrexias, loss of skills, and slowing of head growth. Over time, as many as 40% develop chilblain skin lesions on the fingers, toes, and ears. It is becoming apparent that atypical, sometimes milder, cases of AGS exist, and thus the true extent of the phenotype associated with pathogenic variants in the AGS-related genes is not yet known.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/332084">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_374101"><div><strong>Mitochondrial complex I deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>374101</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.">C1838979</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Isolated complex I deficiency is a rare inborn error of metabolism due to mutations in nuclear or mitochondrial genes encoding subunits or assembly factors of the human mitochondrial complex I (NADH: ubiquinone oxidoreductase) and is characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome (see these terms).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/374101">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_341244"><div><strong>Waardenburg syndrome type 4A</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341244</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.">C1848519</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Waardenburg syndrome type 4 (WS4), also known as Waardenburg-Shah syndrome, is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease (reviews by Read and Newton, 1997 and Pingault et al., 2010). WS type 4A is caused by mutation in the EDNRB gene (131244). Clinical Variability of Waardenburg Syndrome Types 1-4 Waardenburg syndrome has been classified into 4 main phenotypes. Type I Waardenburg syndrome (WS1; 193500) is characterized by pigmentary abnormalities of the hair, including a white forelock and premature graying; pigmentary changes of the iris, such as heterochromia iridis and brilliant blue eyes; congenital sensorineural hearing loss; and 'dystopia canthorum.' WS type II (WS2) is distinguished from type I by the absence of dystopia canthorum. WS type III (WS3; 148820) has dystopia canthorum and is distinguished by the presence of upper limb abnormalities. WS type 4 has the additional feature of Hirschsprung disease (reviews by Read and Newton, 1997 and Pingault et al., 2010). Genetic Heterogeneity of Waardenburg Syndrome Type 4 Waardenburg syndrome type 4 is genetically heterogeneous. WS4B (613265) is caused by mutation in the EDN3 gene (131242) on chromosome 20q13, and WS4C (613266) is caused by mutation in the SOX10 gene (602229) on chromosome 22q13.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/341244">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_376636"><div><strong>Acyl-CoA oxidase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376636</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.">C1849678</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Peroxisomal acyl-CoA oxidase deficiency is a disorder of peroxisomal fatty acid beta-oxidation. See also D-bifunctional protein deficiency (261515), caused by mutation in the HSD17B4 gene (601860) on chromosome 5q2. The clinical manifestations of these 2 deficiencies are similar to those of disorders of peroxisomal assembly, including Zellweger cerebrohepatorenal syndrome (see 214100) and neonatal adrenoleukodystrophy (see 601539) (Watkins et al., 1995).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/376636">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_342403"><div><strong>Hypomyelinating leukodystrophy 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>342403</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.">C1850053</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypomyelinating leukodystrophy-3 (HLD3) is an autosomal recessive severe neurologic disorder characterized by early infantile onset of global developmental delay, lack of development, lack of speech acquisition, and peripheral spasticity associated with decreased myelination in the central nervous system (summary by Feinstein et al., 2010). The disorder is phenotypically similar to X-linked Pelizaeus-Merzbacher disease (PMD; 312080), which is caused by mutation in the PLP1 gene (300401). For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see 312080.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/342403">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_346552"><div><strong>Progressive encephalopathy with leukodystrophy due to DECR deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>346552</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.">C1857252</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">2,4-Dienoyl-CoA reductase deficiency (DECRD) is a rare autosomal recessive inborn error of metabolism resulting in mitochondrial dysfunction due to impaired production of NADPH, which is an essential cofactor for several mitochondrial enzymes. Affected individuals have a variable phenotype: some may have severe neurologic symptoms and metabolic dysfunction beginning in early infancy, whereas others may present with more subtle features, such as childhood-onset optic atrophy or intermittent muscle weakness. The variable severity is putatively dependent on the effect of the mutation on the NADK2 enzyme. Biochemical analysis typically shows hyperlysinemia, due to defective activity of the mitochondrial NADP(H)-dependent enzyme AASS (605113), which is usually a benign finding. More severe cases have increased C10:2-carnitine levels, due to defective activity of the enzyme DECR (DECR1; 222745) (summary by Houten et al., 2014 and Pomerantz et al., 2018).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/346552">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_387794"><div><strong>Dermatoleukodystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>387794</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.">C1857314</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">This syndrome is characterized by the association of a progressive leukodystrophy marked by generalized mental and motor impairment with the presence of thickened and wrinkled skin. It has been described in a Japanese brother and sister born to healthy parents. Both patients died in early childhood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/387794">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_387884"><div><strong>Combined oxidative phosphorylation defect type 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>387884</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.">C1857682</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare mitochondrial disorder due to a defect in mitochondrial protein synthesis with characteristics of neonatal onset of severe metabolic acidosis and respiratory distress, persistent lactic acidosis with episodes of metabolic crises, developmental regression, microcephaly, abnormal gaze fixation and pursuit, axial hypotonia with limb spasticity and reduced spontaneous movements. Neuroimaging studies reveal polymicrogyria, white matter abnormalities and multiple cystic brain lesions, including basal ganglia, and cerebral atrophy. Decreased activity of complex I and IV have been determined in muscle biopsy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/387884">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_501134"><div><strong>Hypomyelination and Congenital Cataract</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>501134</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1864663</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypomyelination and congenital cataract (HCC) is usually characterized by bilateral congenital cataracts and normal psychomotor or only mildly delayed development in the first year of life, followed by slowly progressive neurologic impairment manifest as ataxia, spasticity (brisk tendon reflexes and bilateral extensor plantar responses), and mild-to-moderate cognitive impairment. Dysarthria and truncal hypotonia are observed. Cerebellar signs (truncal titubation and intention tremor) and peripheral neuropathy (muscle weakness and wasting of the legs) are present in the majority of affected individuals. Seizures can occur. Cataracts may be absent in some individuals.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/501134">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_356995"><div><strong>Adult-onset autosomal dominant demyelinating leukodystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>356995</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.">C1868512</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">LMNB1-related autosomal dominant leukodystrophy (ADLD) is a slowly progressive disorder of central nervous system white matter characterized by onset of autonomic dysfunction in the fourth to fifth decade, followed by pyramidal and cerebellar abnormalities resulting in spasticity, ataxia, and tremor. Autonomic dysfunction can include bladder dysfunction, constipation, postural hypotension, erectile dysfunction, and (less often) impaired sweating. Pyramidal signs are often more prominent in the lower extremities (e.g., spastic weakness, hypertonia, clonus, brisk deep tendon reflexes, and bilateral Babinski signs). Cerebellar signs typically appear at the same time as the pyramidal signs and include gait ataxia, dysdiadochokinesia, intention tremor, dysmetria, and nystagmus. Many individuals have sensory deficits starting in the lower limbs. Pseudobulbar palsy with dysarthria, dysphagia, and forced crying and laughing may appear in the seventh or eighth decade. Although cognitive function is usually preserved or only mildly impaired early in the disease course, dementia and psychiatric manifestations can occur as late manifestations. Affected individuals may survive for decades after onset.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/356995">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_383026"><div><strong>Hypomyelinating leukodystrophy 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>383026</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.">C2677109</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any leukodystrophy in which the cause of the disease is a mutation in the HSPD1 gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/383026">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_413116"><div><strong>Aicardi-Goutieres syndrome 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>413116</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.">C2749659</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Most characteristically, Aicardi-Goutières syndrome (AGS) manifests as an early-onset encephalopathy that usually, but not always, results in severe intellectual and physical disability. A subgroup of infants with AGS present at birth with abnormal neurologic findings, hepatosplenomegaly, elevated liver enzymes, and thrombocytopenia, a picture highly suggestive of congenital infection. Otherwise, most affected infants present at variable times after the first few weeks of life, frequently after a period of apparently normal development. Typically, they demonstrate the subacute onset of a severe encephalopathy characterized by extreme irritability, intermittent sterile pyrexias, loss of skills, and slowing of head growth. Over time, as many as 40% develop chilblain skin lesions on the fingers, toes, and ears. It is becoming apparent that atypical, sometimes milder, cases of AGS exist, and thus the true extent of the phenotype associated with pathogenic variants in the AGS-related genes is not yet known.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/413116">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_482008"><div><strong>Multiple mitochondrial dysfunctions syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>482008</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.">C3280378</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Multiple mitochondrial dysfunctions syndrome-2 (MMDS2) with hyperglycinemia is a severe autosomal recessive disorder characterized by developmental regression in infancy. Affected children have an encephalopathic disease course with seizures, spasticity, loss of head control, and abnormal movement. Additional more variable features include optic atrophy, cardiomyopathy, and leukodystrophy. Laboratory studies show increased serum glycine and lactate. Most patients die in childhood. The disorder represents a form of 'variant' nonketotic hyperglycinemia and is distinct from classic nonketotic hyperglycinemia (NKH, or GCE; 605899), which is characterized by significantly increased CSF glycine. Several forms of 'variant' NKH, including MMDS2, appear to result from defects of mitochondrial lipoate biosynthesis (summary by Baker et al., 2014). For a general description and a discussion of genetic heterogeneity of multiple mitochondrial dysfunctions syndrome, see MMDS1 (605711).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/482008">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_482517"><div><strong>Lipoic acid synthetase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>482517</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.">C3280887</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hyperglycinemia, lactic acidosis, and seizures (HGCLAS) is a severe autosomal recessive disorder characterized by onset of hypotonia and seizures associated with increased serum glycine and lactate in the first days of life. Affected individuals develop an encephalopathy or severely delayed psychomotor development, which may result in death in childhood. The disorder represents a form of 'variant' nonketotic hyperglycinemia and is distinct from classic nonketotic hyperglycinemia (NKH, or GCE; 605899), which is characterized by significantly increased CSF glycine. Several forms of 'variant' NKH, including HGCLAS, appear to result from defects of mitochondrial lipoate biosynthesis (summary by Baker et al., 2014).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/482517">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_482830"><div><strong>Leukoencephalopathy with calcifications and cysts</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>482830</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.">C3281200</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Leukoencephalopathy, brain calcifications, and cysts (LCC), also known as Labrune syndrome, is characterized by a constellation of features restricted to the central nervous system, including leukoencephalopathy, brain calcifications, and cysts, resulting in spasticity, dystonia, seizures, and cognitive decline (summary by Labrune et al., 1996). See also cerebroretinal microangiopathy with calcifications and cysts (CRMCC; 612199), an autosomal recessive disorder caused by mutation in the CTC1 gene (613129) that shows phenotypic similarities to Labrune syndrome. CRMCC includes the neurologic findings of intracranial calcifications, leukodystrophy, and brain cysts, but also includes retinal vascular abnormalities and other systemic manifestations, such as osteopenia with poor bone healing, a high risk of gastrointestinal bleeding, hair, skin, and nail changes, and anemia and thrombocytopenia. Although Coats plus syndrome and Labrune syndrome were initially thought to be manifestations of the same disorder, namely CRMCC, molecular evidence has excluded mutations in the CTC1 gene in patients with Labrune syndrome, suggesting that the 2 disorders are not allelic (Anderson et al., 2012; Polvi et al., 2012).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/482830">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_761287"><div><strong>Aicardi-Goutieres syndrome 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>761287</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.">C3539013</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
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<div class="spaceAbove">Most characteristically, Aicardi-Goutières syndrome (AGS) manifests as an early-onset encephalopathy that usually, but not always, results in severe intellectual and physical disability. A subgroup of infants with AGS present at birth with abnormal neurologic findings, hepatosplenomegaly, elevated liver enzymes, and thrombocytopenia, a picture highly suggestive of congenital infection. Otherwise, most affected infants present at variable times after the first few weeks of life, frequently after a period of apparently normal development. Typically, they demonstrate the subacute onset of a severe encephalopathy characterized by extreme irritability, intermittent sterile pyrexias, loss of skills, and slowing of head growth. Over time, as many as 40% develop chilblain skin lesions on the fingers, toes, and ears. It is becoming apparent that atypical, sometimes milder, cases of AGS exist, and thus the true extent of the phenotype associated with pathogenic variants in the AGS-related genes is not yet known.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/761287">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_766862"><div><strong>Peroxisome biogenesis disorder 6B</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>766862</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.">C3553948</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
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<div class="spaceAbove">The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood. Some patients with PEX10 mutations have a milder disorder characterized by childhood-onset cerebellar ataxia and neuropathy without mental retardation (summary by Waterham and Ebberink, 2012). For a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see 601539. Individuals with mutations in the PEX10 gene have cells of complementation group 7 (CG7, equivalent to CGB). For information on the history of PBD complementation groups, see 214100.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/766862">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_766874"><div><strong>Peroxisome biogenesis disorder 8B</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>766874</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.">C3553960</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by Waterham and Ebberink, 2012). For a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see 601539. Individuals with mutations in the PEX16 gene have cells of complementation group 9 (CG9, equivalent to CGD). For information on the history of PBD complementation groups, see 214100.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/766874">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_815495"><div><strong>Multiple mitochondrial dysfunctions syndrome 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>815495</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.">C3809165</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Multiple mitochondrial dysfunctions syndrome-3 (MMDS3) is an autosomal recessive severe neurodegenerative disorder characterized by loss of previously acquired developmental milestones in the first months or years of life. Some affected patients have normal development in early infancy before the onset of symptoms, whereas others show delays from birth. Features included loss of motor function, spasticity, pyramidal signs, loss of speech, and cognitive impairment. The disease course is highly variable: some patients die of respiratory failure early in childhood, whereas some survive but may be bedridden with a feeding tube. Less commonly, some patients may survive and have a stable course with motor deficits and mild or even absent cognitive impairment, although there may be fluctuating symptoms, often in response to infection. Other variable features include visual problems and seizures. Brain imaging shows diffuse leukodystrophy in the subcortical region, brainstem, cerebellum, and spinal cord. Laboratory studies tend to show increased lactate and CSF glycine, and decreased activity of mitochondrial complexes I and II, although these findings are also variable. There may be additional biochemical evidence of mitochondrial dysfunction (summary by Liu et al., 2018). For a general description and a discussion of genetic heterogeneity of multiple mitochondrial dysfunctions syndrome, see MMDS1 (605711).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/815495">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_815922"><div><strong>Mitochondrial DNA depletion syndrome 13</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>815922</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.">C3809592</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">FBXL4-related encephalomyopathic mitochondrial DNA (mtDNA) depletion syndrome is a multi-system disorder characterized primarily by congenital or early-onset lactic acidosis and growth failure, feeding difficulty, hypotonia, and developmental delay. Other neurologic manifestations can include seizures, movement disorders, ataxia, autonomic dysfunction, and stroke-like episodes. All affected individuals alive at the time they were reported (median age: 3.5 years) demonstrated significant developmental delay. Other findings can involve the heart (hypertrophic cardiomyopathy, congenital heart malformations, arrhythmias), liver (mildly elevated transaminases), eyes (cataract, strabismus, nystagmus, optic atrophy), hearing (sensorineural hearing loss), and bone marrow (neutropenia, lymphopenia). Survival varies; the median age of reported deaths was two years (range 2 days – 75 months), although surviving individuals as old as 36 years have been reported. To date FBXL4-related mtDNA depletion syndrome has been reported in 50 individuals.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/815922">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_863760"><div><strong>Hypomyelinating leukodystrophy 9</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>863760</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.">C4015323</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypomyelinating leukodystrophy-9 (HLD9) is an autosomal recessive neurologic disorder characterized by onset of delayed psychomotor development, spasticity, and nystagmus in the first year of life. Additional neurologic features such as ataxia and abnormal movements may also occur. Brain imaging shows diffuse hypomyelination affecting all regions of the brain (summary by Wolf et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see 312080.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/863760">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_896545"><div><strong>Hypomyelinating leukodystrophy 13</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>896545</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.">C4225170</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypomyelinating leukodystrophy-13 (HLD13) is an autosomal recessive neurodegenerative disorder characterized by infantile onset of delayed psychomotor development, axial hypotonia, and spasticity associated with delayed myelination and periventricular white matter abnormalities on brain imaging. More variable neurologic deficits, such as visual impairment, may also occur. Some patients may experience cardiac failure during acute illness (summary by Edvardson et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see 312080.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/896545">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_905660"><div><strong>Spasticity-ataxia-gait anomalies syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>905660</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.">C4225178</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Childhood-onset spasticity with hyperglycinemia is an autosomal recessive disorder characterized by onset of slowly progressive spasticity that results in impaired gait in the first decade of life. Imaging of the central nervous system shows leukodystrophy and/or lesions in the upper spinal cord. More variable features include visual defects and mild learning disabilities. Serum glycine is increased, but CSF glycine is only mildly increased or normal; serum lactate is normal. The disorder represents a form of 'variant' nonketotic hyperglycinemia and is distinct from classic nonketotic hyperglycinemia (NKH, or GCE; 605899), which is characterized by significantly increased CSF glycine. Several forms of 'variant' NKH, including SPAHGC, appear to result from defects of mitochondrial lipoate biosynthesis (summary by Baker et al., 2014).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/905660">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_908888"><div><strong>Leukodystrophy and acquired microcephaly with or without dystonia;</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>908888</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.">C4225213</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/908888">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_902513"><div><strong>Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>902513</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.">C4225291</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, and congenital muscular dystrophy. The phenotype includes the alternative clinical designation Walker-Warburg syndrome (WWS), which is associated with death in infancy. The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1), collectively known as 'dystroglycanopathies' (summary by Geis et al., 2013 and Riemersma et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (236670).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/902513">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_897960"><div><strong>Hypomyelinating leukodystrophy 11</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>897960</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.">C4225305</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/897960">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_904191"><div><strong>Hypomyelinating leukodystrophy 10</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>904191</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.">C4225332</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypomyelinating leukodystrophy-10 (HLD10) is an autosomal recessive neurologic disorder characterized by postnatal progressive microcephaly, severely delayed psychomotor development, and hypomyelination on brain imaging (summary by Nakayama et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see 312080.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/904191">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_899010"><div><strong>Multiple mitochondrial dysfunctions syndrome 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>899010</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.">C4225348</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Infants with ISCA2-related mitochondrial disorder (IRMD) typically attain normal development in the first months of life. At age three to seven months, affected individuals usually present with a triad of neurodevelopmental regression, nystagmus with optic atrophy, and diffuse white matter disease. As the disease progresses, global psychomotor regression continues at a variable pace and seizures may develop. Affected children become vegetative within one to two years. During their vegetative state, which may persist for years, affected individuals are prone to recurrent chest infections that may require ventilator support. Most affected individuals die during early childhood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/899010">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1382553"><div><strong>Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1382553</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.">C4479653</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">NKX6-2-related disorder is characterized by a spectrum of progressive neurologic manifestations resulting from diffuse central nervous system hypomyelination. At the severe end of the spectrum is neonatal-onset nystagmus, severe spastic tetraplegia with joint contractures and scoliosis, and visual and hearing impairment, all of which rapidly progress resulting in death in early childhood. At the milder end of the spectrum is normal achievement of early motor milestones in the first year of life followed by slowly progressive complex spastic ataxia with pyramidal findings (spasticity with increased muscle tone and difficulty with gait and fine motor coordination) and cerebellar findings (nystagmus, extraocular movement disorder, dysarthria, titubation, and ataxia) with loss of developmental milestones. To date NKX6-2-related disorder has been reported in 25 individuals from 13 families.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1382553">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1623132"><div><strong>Multiple mitochondrial dysfunctions syndrome 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1623132</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.">C4539919</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">ISCA1-related multiple mitochondrial dysfunctions syndrome (ISCA1-MMDS) is a severe neurodegenerative condition typically characterized by either no attainment of developmental milestones or very early loss of achieved milestones, seizures in early infancy, development of spasticity with exaggerated deep tendon reflexes, nystagmus, and risk for sensorineural hearing loss. Affected individuals may also demonstrate elevated blood lactate levels with an elevated lipid-lactate peak on brain MR spectroscopy. Further brain MRI findings may include extensive cerebral and cerebellar deep white matter hyperintensities, marked dilatation of the cerebral ventricles, and pachygyria. Prognosis is poor and most individuals succumb to an intercurrent illness in early childhood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1623132">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1622324"><div><strong>Alkaline ceramidase 3 deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1622324</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.">C4540358</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare genetic disorder with characteristics of infantile onset of stagnation and regression of motor and language development resulting in complete lack of communication and purposeful movement. Further neurological manifestations include truncal hypotonia, appendicular spasticity, dystonia, optic disc pallor, peripheral neuropathy and neurogenic bladder. Patients also present multiple contractures, late-onset relative macrocephaly, short stature and facial dysmorphism (including coarse facial features, sloping forehead, thick eyebrows, low-set ears, prominent nose, flat philtrum, and prominent lower lip). Brain imaging at advanced stages shows diffuse abnormal white matter signal and severe atrophy. Sural nerve biopsy reveals decreased myelination.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1622324">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1636142"><div><strong>Cerebroretinal microangiopathy with calcifications and cysts 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1636142</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.">C4552029</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Dyskeratosis congenita and related telomere biology disorders (DC/TBD) are caused by impaired telomere maintenance resulting in short or very short telomeres. The phenotypic spectrum of telomere biology disorders is broad and includes individuals with classic dyskeratosis congenita (DC) as well as those with very short telomeres and an isolated physical finding. Classic DC is characterized by a triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia, although this may not be present in all individuals. People with DC/TBD are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome or acute myelogenous leukemia, solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis. Other findings can include eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis), taurodontism, liver disease, gastrointestinal telangiectasias, and avascular necrosis of the hips or shoulders. Although most persons with DC/TBD have normal psychomotor development and normal neurologic function, significant developmental delay is present in both forms; additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome and Coats plus syndrome). Onset and progression of manifestations of DC/TBD vary: at the mild end of the spectrum are those who have only minimal physical findings with normal bone marrow function, and at the severe end are those who have the diagnostic triad and early-onset BMF.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1636142">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_1647672"><div><strong>Neurodegeneration with brain iron accumulation 7</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1647672</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.">C4693583</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neurodegeneration with brain iron accumulation-7 (NBIA7) is characterized by iron accumulation in the basal ganglia and manifests as a progressive extrapyramidal syndrome with dystonia, rigidity, and choreoathetosis. Severity and rate of progression are variable (Drecourt et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of NBIA, see NBIA1 (234200).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1647672">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1633653"><div><strong>Leukodystrophy, hypomyelinating, 15</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1633653</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.">C4693733</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypomyelinating leukodystrophy-15 (HLD15) is an autosomal recessive neurodegenerative disorder characterized by onset of motor and cognitive impairment in the first or second decade of life. Features include dystonia, ataxia, spasticity, and dysphagia. Most patients develop severe optic atrophy, and some have hearing loss. Brain imaging shows hypomyelinating leukodystrophy with thin corpus callosum. The severity of the disorder is variable (summary by Mendes et al., 2018) For a discussion of genetic heterogeneity of HLD, see 312080.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1633653">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1631337"><div><strong>Leukodystrophy, hypomyelinating, 16</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1631337</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.">C4693779</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypomyelinating leukodystrophy-16 (HLD16) is an autosomal dominant neurologic disorder characterized by onset of hypotonia, nystagmus, and mildly delayed motor development in infancy. Affected individuals have motor disabilities, including ataxic or broad-based gait, hyperreflexia, intention tremor, dysmetria, and a mild pyramidal syndrome. Some patients have cognitive impairment, whereas others may have normal cognition or mild intellectual disability with speech difficulties. Brain imaging typically shows hypomyelination, leukodystrophy, and thin corpus callosum (summary by Simons et al., 2017). For a general phenotypic description and a discussion of genetic heterogeneity of hypomyelinating leukodystrophy, see 312080.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1631337">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1644557"><div><strong>Leukodystrophy, hypomyelinating, 17</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1644557</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.">C4693912</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypomyelinating leukodystrophy-17 (HLD17) is an autosomal recessive neurodevelopmental disorder characterized by poor, if any, development apparent from infancy. Affected individuals never learn to walk or speak, and have early-onset multifocal seizures, spasticity, poor overall growth, and microcephaly (up to -10 SD). Brain imaging shows multiple abnormalities, including cerebral and cerebellar atrophy, thin corpus callosum, abnormal signals in the basal ganglia, and features suggesting hypo- or demyelination. Some patients may die in childhood (summary by Shukla et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of hypomyelinating leukodystrophy, see 312080.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1644557">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1631854"><div><strong>Combined oxidative phosphorylation defect type 13</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1631854</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.">C4706283</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Combined oxidative phosphorylation deficiency-13 (COXPD13) is an autosomal recessive multisystem disorder resulting from mitochondrial dysfunction. Affected individuals develop severe neurologic impairment in the first months of life, including hypotonia, abnormal dystonic movements, hearing loss, poor feeding, global developmental delay, and abnormal eye movements. Brain imaging shows signal abnormalities in putamen, basal ganglia, caudate nuclei, or corpus callosum, as well as delayed myelination. Analysis of patient tissues shows multiple defects in enzymatic activities of the mitochondrial respiratory chain, although some tissues may show normal values since tissue expression of the mitochondrial defect and metabolic needs of specific tissues are variable (summary by Vedrenne et al., 2012). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1631854">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1639554"><div><strong>Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1639554</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.">C4706676</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/1639554">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1648324"><div><strong>Mitochondrial complex 1 deficiency, nuclear type 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648324</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.">C4748753</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/1648324">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1648292"><div><strong>Mitochondrial complex 1 deficiency, nuclear type 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648292</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.">C4748754</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/1648292">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1648383"><div><strong>Mitochondrial complex 1 deficiency, nuclear type 21</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648383</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.">C4748792</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/1648383">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1684698"><div><strong>Leukodystrophy, hypomyelinating, 19, transient infantile</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1684698</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.">C5231463</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Transient infantile hypomyelinating leukodystrophy-19 (HLD19) is a disorder characterized by onset of transient neurologic abnormalities in early infancy, with resolution within the first or second decades. Affected individuals typically present in the newborn period or in early infancy with nystagmus and motor deficits associated with marked hypomyelination on brain imaging. Both neurologic impairment and abnormal brain imaging spontaneously resolve during childhood. Most patients have normal cognition and can attend regular schools, although some may have persistent neurologic deficits, such as gait ataxia, speech pronunciation defects, and/or mild cognitive impairment (summary by Yan et al., 2019). For a discussion of genetic heterogeneity of HLD, see 312080.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1684698">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1711112"><div><strong>Tremor, hereditary essential, 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1711112</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.">C5394329</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hereditary essential tremor-6 (ETM6) is an autosomal dominant neurologic disorder characterized by adult-onset kinetic and/or postural tremor usually affecting the upper limbs. Some patients may have involvement of the head, trunk, lower limbs, and/or voice. Additional neurologic features, such as cognitive impairment or pyramidal signs, are usually not observed. Brain imaging does not show cerebellar atrophy or leukodystrophy. Skin biopsy shows intranuclear eosinophilic inclusions in fibroblasts and sweat gland cells, which may be used for diagnosis. There is evidence of genetic anticipation, with progressive earlier age at onset in younger generations. In rare cases, the phenotype may convert to NIID over time (summary by Sun et al., 2020; Ng et al., 2020). For a phenotypic description and a discussion of genetic heterogeneity of hereditary essential tremor, see ETM1 (190300).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1711112">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1754683"><div><strong>Mitochondrial complex 4 deficiency, nuclear type 7</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1754683</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.">C5436685</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mitochondrial complex IV deficiency nuclear type 7 (MC4DN7) is an autosomal recessive metabolic encephalomyopathic disorder with highly variable manifestations. Only a few patients have been reported. Some patients have normal early development then show rapid neurodegeneration with progressive muscle weakness, gait disturbances, and cognitive decline in mid to late childhood. Other features may include seizures and visual impairment. Brain imaging shows progressive leukodystrophy with cystic lesions. In contrast, at least 1 patient has been reported who presented in the neonatal period with metabolic acidosis, hydrocephalus, hypotonia, and cortical blindness. This patient developed hypertrophic cardiomyopathy resulting in early death. All patients had increased serum lactate and decreased levels and activity of mitochondrial respiratory complex IV (summary by Massa et al., 2008 and Abdulhag et al., 2015). For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1754683">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1784506"><div><strong>Deafness, congenital, and adult-onset progressive leukoencephalopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1784506</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.">C5543087</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital deafness and adult-onset progressive leukoencephalopathy (DEAPLE) is an autosomal recessive complex neurodegenerative disorder characterized by congenital neurosensory deafness followed by onset of neurodegenerative symptoms, including pyramidal signs and cognitive decline, in young adulthood. Some patients may have mild developmental delay or learning difficulties in childhood, but most can function independently. The onset of motor and cognitive decline in adulthood can be rapid and may result in early death. Brain imaging shows diffuse white matter abnormalities affecting various brain regions, consistent with a progressive leukoencephalopathy. More variable additional features may include visual impairment and axonal peripheral neuropathy (summary by Scheidecker et al., 2019).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1784506">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1782861"><div><strong>Mitochondrial complex 2 deficiency, nuclear type 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1782861</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.">C5543176</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mitochondrial complex II deficiency nuclear type 4 (MC2DN4) is a severe autosomal recessive disorder characterized by early-onset progressive neurodegeneration with leukoencephalopathy. Acute episodes of neurodegeneration are often triggered by catabolic stress such as infection or fasting.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1782861">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794167"><div><strong>Developmental delay, impaired speech, and behavioral abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794167</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.">C5561957</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Developmental delay, impaired speech, and behavioral abnormalities (DDISBA) is characterized by global developmental delay apparent from early childhood. Intellectual disability can range from mild to severe. Additional variable features may include dysmorphic facial features, seizures, hypotonia, motor abnormalities such as Tourette syndrome or dystonia, and hearing loss (summary by Cousin et al., 2021).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794167">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794214"><div><strong>Developmental delay with or without intellectual impairment or behavioral abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794214</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.">C5562004</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Developmental delay with or without intellectual impairment or behavioral abnormalities (DDIB) is an autosomal dominant disorder with a nonspecific phenotype of developmental delay. Additional features may include neonatal feeding problems, hypotonia, and dysmorphic facial features (Dulovic-Mahlow et al., 2019; van Woerden et al., 2021).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794214">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794215"><div><strong>Cerebellar ataxia, brain abnormalities, and cardiac conduction defects</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794215</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.">C5562005</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cerebellar ataxia, brain abnormalities, and cardiac conduction defects (CABAC) is an autosomal recessive primarily neurologic disorder with variable manifestations. Common features included infantile-onset hypotonia, poor motor development, poor feeding and overall growth, and ataxic gait due to cerebellar ataxia. Other features include dysarthria, nystagmus, variable ocular anomalies, spasticity, hyperreflexia, and nonspecific dysmorphic features. Most, but not all, patients have global developmental delay with impaired intellectual development and speech delay. Brain imaging shows cerebellar hypoplasia, often with brainstem hypoplasia, enlarged ventricles, delayed myelination, and thin corpus callosum. A significant number of patients develop cardiac conduction defects in childhood or adolescence, often requiring pacemaker placement (summary by Slavotinek et al., 2020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794215">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1811526"><div><strong>Gastrointestinal defects and immunodeficiency syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1811526</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.">C5676901</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">PI4KA-related disorder is a clinically variable disorder characterized primarily by neurologic dysfunction (limb spasticity, developmental delay, intellectual disability, seizures, ataxia, nystagmus), gastrointestinal manifestations (multiple intestinal atresia, inflammatory bowel disease), and combined immunodeficiency (leukopenia, variable immunoglobulin defects). Age of onset is typically antenatal or in early childhood; individuals can present with any combination of these features. Rare individuals present with later-onset hereditary spastic paraplegia. Brain MRI findings can include hypomyelinating leukodystrophy, cerebellar hypoplasia/atrophy, thin or dysplastic corpus callosum, and/or perisylvian polymicrogyria.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1811526">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1805365"><div><strong>Leukodystrophy, hypomyelinating, 24</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1805365</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.">C5676974</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypomyelinating leukodystrophy-24 (HLD24) is an autosomal dominant disorder characterized by global developmental delay and neurologic deterioration (Segawa et al., 2021). For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see 312080.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1805365">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1804145"><div><strong>Leukodystrophy, childhood-onset, remitting</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1804145</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.">C5676979</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Childhood-onset remitting leukodystrophy (CORLK) is a very rare autosomal dominant disorder characterized in some patients by onset of a metabolic crisis at the end of the first year of life that leads to widespread demyelination and leukodystrophy on brain imaging and a dramatic loss of developmental abilities. Affected children recover over the following several months, regaining normal development accompanied by remyelination. Not all patients have documented acute episodes of metabolic demyelination in infancy, but individuals with the FBP2 mutation show persistent white matter abnormalities on brain imaging that resemble the abnormalities observed in infants with the acute crisis. Other neurologic disturbances that may or may not be related to the FBP2 mutation have been observed, including psychiatric manifestations, seizures, and mild learning difficulties (Gizak et al., 2021).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1804145">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1840948"><div><strong>Leukodystrophy, hypomyelinating, 26, with chondrodysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1840948</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.">C5830312</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypomyelinating leukodystrophy-26 with chondrodysplasia (HLD26) is characterized by severe psychomotor delay, predominantly involving motor and expressive language development, with cerebral and cerebellar atrophy and corpus callosum hypoplasia. In addition, patients show pre- and postnatal growth retardation, early-onset scoliosis, and dislocations of large joints (Guasto et al., 2022). For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see HLD1 (312080).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1840948">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1844996"><div><strong>Leukodystrophy, hypomyelinating, 27</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1844996</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.">C5882743</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypomyelinating leukodystrophy-27 (HLD27) is an autosomal recessive neurologic disorder characterized by global developmental delay with impaired motor and intellectual development apparent from infancy. Affected individuals have poor or absent speech, ataxic gait or inability to sit or walk, spasticity, and abnormal eye movements (nystagmus, gaze palsy). Some patients have seizures. Disease progression and developmental regression consistent with neurodegeneration is often observed. Brain imaging shows progressive hypomyelinating leukodystrophy, cerebral and cerebellar atrophy, and thin corpus callosum (Misceo et al., 2023). For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see 312080.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1844996">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_376636" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Acyl-CoA oxidase deficiency</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_356995" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Adult-onset autosomal dominant demyelinating leukodystrophy</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_332084" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Aicardi-Goutieres syndrome 4</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_413116" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Aicardi-Goutieres syndrome 5</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_761287" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Aicardi-Goutieres syndrome 6</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (62)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1622324" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Alkaline ceramidase 3 deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_208645" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Allan-Herndon-Dudley syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794215" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebellar ataxia, brain abnormalities, and cardiac conduction defects</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1636142" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebroretinal microangiopathy with calcifications and cysts 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1631854" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Combined oxidative phosphorylation defect type 13</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_387884" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Combined oxidative phosphorylation defect type 4</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_75550" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">DE SANCTIS-CACCHIONE SYNDROME</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1784506" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Deafness, congenital, and adult-onset progressive leukoencephalopathy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_387794" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dermatoleukodystrophy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794214" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental delay with or without intellectual impairment or behavioral abnormalities</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794167" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental delay, impaired speech, and behavioral abnormalities</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_137977" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gamma-aminobutyric acid transaminase deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1811526" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gastrointestinal defects and immunodeficiency syndrome 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_904191" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypomyelinating leukodystrophy 10</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_897960" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypomyelinating leukodystrophy 11</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_896545" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypomyelinating leukodystrophy 13</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="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_342403" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypomyelinating leukodystrophy 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_383026" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypomyelinating leukodystrophy 4</a></div>
|
||
<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_863760" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypomyelinating leukodystrophy 9</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_501134" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypomyelination and Congenital Cataract</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_908888" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Leukodystrophy and acquired microcephaly with or without dystonia;</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1804145" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Leukodystrophy, childhood-onset, remitting</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1633653" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Leukodystrophy, hypomyelinating, 15</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1631337" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Leukodystrophy, hypomyelinating, 16</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1644557" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Leukodystrophy, hypomyelinating, 17</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1684698" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Leukodystrophy, hypomyelinating, 19, transient infantile</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1805365" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Leukodystrophy, hypomyelinating, 24</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1840948" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Leukodystrophy, hypomyelinating, 26, with chondrodysplasia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1844996" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Leukodystrophy, hypomyelinating, 27</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_482830" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Leukoencephalopathy with calcifications and cysts</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1639554" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_482517" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lipoic acid synthetase deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648383" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial complex 1 deficiency, nuclear type 21</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648324" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial complex 1 deficiency, nuclear type 4</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648292" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial complex 1 deficiency, nuclear type 5</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1782861" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial complex 2 deficiency, nuclear type 4</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1754683" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial complex 4 deficiency, nuclear type 7</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_374101" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial complex I deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_815922" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial DNA depletion syndrome 13</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_482008" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Multiple mitochondrial dysfunctions syndrome 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_815495" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Multiple mitochondrial dysfunctions syndrome 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_899010" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Multiple mitochondrial dysfunctions syndrome 4</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1623132" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Multiple mitochondrial dysfunctions syndrome 5</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_902513" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1647672" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodegeneration with brain iron accumulation 7</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_79470" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Peroxisome biogenesis disorder 1B</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_766862" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Peroxisome biogenesis disorder 6B</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_766874" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Peroxisome biogenesis disorder 8B</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_346552" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Progressive encephalopathy with leukodystrophy due to DECR deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_18801" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pyruvate carboxylase deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1382553" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_905660" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spasticity-ataxia-gait anomalies syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1711112" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tremor, hereditary essential, 6</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_341244" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Waardenburg syndrome type 4A</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/38613540">Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Adang LA,
|
||
Bonkowsky JL,
|
||
Boelens JJ,
|
||
Mallack E,
|
||
Ahrens-Nicklas R,
|
||
Bernat JA,
|
||
Bley A,
|
||
Burton B,
|
||
Darling A,
|
||
Eichler F,
|
||
Eklund E,
|
||
Emrick L,
|
||
Escolar M,
|
||
Fatemi A,
|
||
Fraser JL,
|
||
Gaviglio A,
|
||
Keller S,
|
||
Patterson MC,
|
||
Orchard P,
|
||
Orthmann-Murphy J,
|
||
Santoro JD,
|
||
Schöls L,
|
||
Sevin C,
|
||
Srivastava IN,
|
||
Rajan D,
|
||
Rubin JP,
|
||
Van Haren K,
|
||
Wasserstein M,
|
||
Zerem A,
|
||
Fumagalli F,
|
||
Laugwitz L,
|
||
Vanderver A</span><br />
|
||
<span class="medgenPMjournal">Cytotherapy</span>
|
||
2024 Jul;26(7):739-748.
|
||
Epub 2024 Apr 1
|
||
doi: 10.1016/j.jcyt.2024.03.487.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38613540" target="_blank">38613540</a><a href="/pmc/articles/PMC11348704" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38554683">Newborn screening in metachromatic leukodystrophy - European consensus-based recommendations on clinical management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Laugwitz L,
|
||
Schoenmakers DH,
|
||
Adang LA,
|
||
Beck-Woedl S,
|
||
Bergner C,
|
||
Bernard G,
|
||
Bley A,
|
||
Boyer A,
|
||
Calbi V,
|
||
Dekker H,
|
||
Eichler F,
|
||
Eklund E,
|
||
Fumagalli F,
|
||
Gavazzi F,
|
||
Grønborg SW,
|
||
van Hasselt P,
|
||
Langeveld M,
|
||
Lindemans C,
|
||
Mochel F,
|
||
Oberg A,
|
||
Ram D,
|
||
Saunier-Vivar E,
|
||
Schöls L,
|
||
Scholz M,
|
||
Sevin C,
|
||
Zerem A,
|
||
Wolf NI,
|
||
Groeschel S</span><br />
|
||
<span class="medgenPMjournal">Eur J Paediatr Neurol</span>
|
||
2024 Mar;49:141-154.
|
||
Epub 2024 Mar 9
|
||
doi: 10.1016/j.ejpn.2024.03.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38554683" target="_blank">38554683</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36175155">International Recommendations for the Diagnosis and Management of Patients With Adrenoleukodystrophy: A Consensus-Based Approach.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Engelen M,
|
||
van Ballegoij WJC,
|
||
Mallack EJ,
|
||
Van Haren KP,
|
||
Köhler W,
|
||
Salsano E,
|
||
van Trotsenburg ASP,
|
||
Mochel F,
|
||
Sevin C,
|
||
Regelmann MO,
|
||
Tritos NA,
|
||
Halper A,
|
||
Lachmann RH,
|
||
Davison J,
|
||
Raymond GV,
|
||
Lund TC,
|
||
Orchard PJ,
|
||
Kuehl JS,
|
||
Lindemans CA,
|
||
Caruso P,
|
||
Turk BR,
|
||
Moser AB,
|
||
Vaz FM,
|
||
Ferdinandusse S,
|
||
Kemp S,
|
||
Fatemi A,
|
||
Eichler FS,
|
||
Huffnagel IC</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2022 Nov 22;99(21):940-951.
|
||
Epub 2022 Sep 29
|
||
doi: 10.1212/WNL.0000000000201374.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36175155" target="_blank">36175155</a><a href="/pmc/articles/PMC9687408" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22leukodystrophy%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 (103)</a></div><h3 class="subhead">Curated<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpCurated"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3><h3 class="nl vspace"><a href="https://publications.aap.org/pediatrics/article/148/3/e2021053126/181065/Leukodystrophies-in-Children-Diagnosis-Care-and" target="_blank">Leukodystrophies in Children: Diagnosis, Care, and Treatment, Pediatrics (2021) 148 (3): e2021053126.</a></h3>
|
||
</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/38390857">Leukodystrophy Imaging: Insights for Diagnostic Dilemmas.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thakkar RN,
|
||
Patel D,
|
||
Kioutchoukova IP,
|
||
Al-Bahou R,
|
||
Reddy P,
|
||
Foster DT,
|
||
Lucke-Wold B</span><br />
|
||
<span class="medgenPMjournal">Med Sci (Basel)</span>
|
||
2024 Jan 25;12(1)
|
||
doi: 10.3390/medsci12010007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38390857" target="_blank">38390857</a><a href="/pmc/articles/PMC10885080" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36835039">Gene Therapy of Sphingolipid Metabolic Disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shaimardanova AA,
|
||
Solovyeva VV,
|
||
Issa SS,
|
||
Rizvanov AA</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2023 Feb 11;24(4)
|
||
doi: 10.3390/ijms24043627.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36835039" target="_blank">36835039</a><a href="/pmc/articles/PMC9964151" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30275469">Lysosomal storage diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Platt FM,
|
||
d'Azzo A,
|
||
Davidson BL,
|
||
Neufeld EF,
|
||
Tifft CJ</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Dis Primers</span>
|
||
2018 Oct 1;4(1):27.
|
||
doi: 10.1038/s41572-018-0025-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30275469" target="_blank">30275469</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29302065">Adulthood leukodystrophies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Köhler W,
|
||
Curiel J,
|
||
Vanderver A</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Neurol</span>
|
||
2018 Feb;14(2):94-105.
|
||
Epub 2018 Jan 5
|
||
doi: 10.1038/nrneurol.2017.175.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29302065" target="_blank">29302065</a><a href="/pmc/articles/PMC11348681" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22411242">Leukodystrophies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Perlman SJ,
|
||
Mar S</span><br />
|
||
<span class="medgenPMjournal">Adv Exp Med Biol</span>
|
||
2012;724:154-71.
|
||
doi: 10.1007/978-1-4614-0653-2_13.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22411242" target="_blank">22411242</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Leukodystrophy%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 (686)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38390857">Leukodystrophy Imaging: Insights for Diagnostic Dilemmas.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thakkar RN,
|
||
Patel D,
|
||
Kioutchoukova IP,
|
||
Al-Bahou R,
|
||
Reddy P,
|
||
Foster DT,
|
||
Lucke-Wold B</span><br />
|
||
<span class="medgenPMjournal">Med Sci (Basel)</span>
|
||
2024 Jan 25;12(1)
|
||
doi: 10.3390/medsci12010007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38390857" target="_blank">38390857</a><a href="/pmc/articles/PMC10885080" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37480112">Predicting disease severity in metachromatic leukodystrophy using protein activity and a patient phenotype matrix.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Trinidad M,
|
||
Hong X,
|
||
Froelich S,
|
||
Daiker J,
|
||
Sacco J,
|
||
Nguyen HP,
|
||
Campagna M,
|
||
Suhr D,
|
||
Suhr T,
|
||
LeBowitz JH,
|
||
Gelb MH,
|
||
Clark WT</span><br />
|
||
<span class="medgenPMjournal">Genome Biol</span>
|
||
2023 Jul 21;24(1):172.
|
||
doi: 10.1186/s13059-023-03001-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37480112" target="_blank">37480112</a><a href="/pmc/articles/PMC10360315" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28674989">Leukodystrophy: Basic and Clinical.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Raymond GV</span><br />
|
||
<span class="medgenPMjournal">Adv Neurobiol</span>
|
||
2017;15:365-382.
|
||
doi: 10.1007/978-3-319-57193-5_14.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28674989" target="_blank">28674989</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26462614">Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cesani M,
|
||
Lorioli L,
|
||
Grossi S,
|
||
Amico G,
|
||
Fumagalli F,
|
||
Spiga I,
|
||
Filocamo M,
|
||
Biffi A</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
2016 Jan;37(1):16-27.
|
||
Epub 2015 Nov 4
|
||
doi: 10.1002/humu.22919.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26462614" target="_blank">26462614</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1348902">Toxic encephalopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Valk J,
|
||
van der Knaap MS</span><br />
|
||
<span class="medgenPMjournal">AJNR Am J Neuroradiol</span>
|
||
1992 Mar-Apr;13(2):747-60.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1348902" target="_blank">1348902</a><a href="/pmc/articles/PMC8333221" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Leukodystrophy%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 (1527)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35938662">Leukodystrophies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Adang L</span><br />
|
||
<span class="medgenPMjournal">Continuum (Minneap Minn)</span>
|
||
2022 Aug 1;28(4):1194-1216.
|
||
doi: 10.1212/CON.0000000000001130.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35938662" target="_blank">35938662</a><a href="/pmc/articles/PMC11320896" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31297531">Gene therapy for primary immunodeficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Booth C,
|
||
Romano R,
|
||
Roncarolo MG,
|
||
Thrasher AJ</span><br />
|
||
<span class="medgenPMjournal">Hum Mol Genet</span>
|
||
2019 Oct 1;28(R1):R15-R23.
|
||
doi: 10.1093/hmg/ddz170.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31297531" target="_blank">31297531</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27638598">Treatment for Krabbe's disease: Finding the combination.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mikulka CR,
|
||
Sands MS</span><br />
|
||
<span class="medgenPMjournal">J Neurosci Res</span>
|
||
2016 Nov;94(11):1126-37.
|
||
doi: 10.1002/jnr.23822.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27638598" target="_blank">27638598</a><a href="/pmc/articles/PMC5295787" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26022168">Emerging treatments for pediatric leukodystrophies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Helman G,
|
||
Van Haren K,
|
||
Escolar ML,
|
||
Vanderver A</span><br />
|
||
<span class="medgenPMjournal">Pediatr Clin North Am</span>
|
||
2015 Jun;62(3):649-66.
|
||
Epub 2015 Apr 8
|
||
doi: 10.1016/j.pcl.2015.03.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26022168" target="_blank">26022168</a><a href="/pmc/articles/PMC5712822" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1348902">Toxic encephalopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Valk J,
|
||
van der Knaap MS</span><br />
|
||
<span class="medgenPMjournal">AJNR Am J Neuroradiol</span>
|
||
1992 Mar-Apr;13(2):747-60.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1348902" target="_blank">1348902</a><a href="/pmc/articles/PMC8333221" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Leukodystrophy%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 (265)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37480112">Predicting disease severity in metachromatic leukodystrophy using protein activity and a patient phenotype matrix.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Trinidad M,
|
||
Hong X,
|
||
Froelich S,
|
||
Daiker J,
|
||
Sacco J,
|
||
Nguyen HP,
|
||
Campagna M,
|
||
Suhr D,
|
||
Suhr T,
|
||
LeBowitz JH,
|
||
Gelb MH,
|
||
Clark WT</span><br />
|
||
<span class="medgenPMjournal">Genome Biol</span>
|
||
2023 Jul 21;24(1):172.
|
||
doi: 10.1186/s13059-023-03001-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37480112" target="_blank">37480112</a><a href="/pmc/articles/PMC10360315" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32808655">Lyso-glycosphingolipids: presence and consequences.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van Eijk M,
|
||
Ferraz MJ,
|
||
Boot RG,
|
||
Aerts JMFG</span><br />
|
||
<span class="medgenPMjournal">Essays Biochem</span>
|
||
2020 Sep 23;64(3):565-578.
|
||
doi: 10.1042/EBC20190090.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32808655" target="_blank">32808655</a><a href="/pmc/articles/PMC7517347" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30275469">Lysosomal storage diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Platt FM,
|
||
d'Azzo A,
|
||
Davidson BL,
|
||
Neufeld EF,
|
||
Tifft CJ</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Dis Primers</span>
|
||
2018 Oct 1;4(1):27.
|
||
doi: 10.1038/s41572-018-0025-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30275469" target="_blank">30275469</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29302065">Adulthood leukodystrophies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Köhler W,
|
||
Curiel J,
|
||
Vanderver A</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Neurol</span>
|
||
2018 Feb;14(2):94-105.
|
||
Epub 2018 Jan 5
|
||
doi: 10.1038/nrneurol.2017.175.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29302065" target="_blank">29302065</a><a href="/pmc/articles/PMC11348681" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22411242">Leukodystrophies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Perlman SJ,
|
||
Mar S</span><br />
|
||
<span class="medgenPMjournal">Adv Exp Med Biol</span>
|
||
2012;724:154-71.
|
||
doi: 10.1007/978-1-4614-0653-2_13.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22411242" target="_blank">22411242</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Leukodystrophy%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 (585)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37480112">Predicting disease severity in metachromatic leukodystrophy using protein activity and a patient phenotype matrix.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Trinidad M,
|
||
Hong X,
|
||
Froelich S,
|
||
Daiker J,
|
||
Sacco J,
|
||
Nguyen HP,
|
||
Campagna M,
|
||
Suhr D,
|
||
Suhr T,
|
||
LeBowitz JH,
|
||
Gelb MH,
|
||
Clark WT</span><br />
|
||
<span class="medgenPMjournal">Genome Biol</span>
|
||
2023 Jul 21;24(1):172.
|
||
doi: 10.1186/s13059-023-03001-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37480112" target="_blank">37480112</a><a href="/pmc/articles/PMC10360315" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36175155">International Recommendations for the Diagnosis and Management of Patients With Adrenoleukodystrophy: A Consensus-Based Approach.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Engelen M,
|
||
van Ballegoij WJC,
|
||
Mallack EJ,
|
||
Van Haren KP,
|
||
Köhler W,
|
||
Salsano E,
|
||
van Trotsenburg ASP,
|
||
Mochel F,
|
||
Sevin C,
|
||
Regelmann MO,
|
||
Tritos NA,
|
||
Halper A,
|
||
Lachmann RH,
|
||
Davison J,
|
||
Raymond GV,
|
||
Lund TC,
|
||
Orchard PJ,
|
||
Kuehl JS,
|
||
Lindemans CA,
|
||
Caruso P,
|
||
Turk BR,
|
||
Moser AB,
|
||
Vaz FM,
|
||
Ferdinandusse S,
|
||
Kemp S,
|
||
Fatemi A,
|
||
Eichler FS,
|
||
Huffnagel IC</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2022 Nov 22;99(21):940-951.
|
||
Epub 2022 Sep 29
|
||
doi: 10.1212/WNL.0000000000201374.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36175155" target="_blank">36175155</a><a href="/pmc/articles/PMC9687408" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34974112">Oncosuppressive and oncogenic activity of the sphingolipid-metabolizing enzyme β-galactosylceramidase.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Belleri M,
|
||
Chiodelli P,
|
||
Corli M,
|
||
Capra M,
|
||
Presta M</span><br />
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||
<span class="medgenPMjournal">Biochim Biophys Acta Rev Cancer</span>
|
||
2022 Jan;1877(1):188675.
|
||
Epub 2021 Dec 31
|
||
doi: 10.1016/j.bbcan.2021.188675.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34974112" target="_blank">34974112</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30620693">Adult Leukodystrophies: A Step-by-Step Diagnostic Approach.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Resende LL,
|
||
de Paiva ARB,
|
||
Kok F,
|
||
da Costa Leite C,
|
||
Lucato LT</span><br />
|
||
<span class="medgenPMjournal">Radiographics</span>
|
||
2019 Jan-Feb;39(1):153-168.
|
||
doi: 10.1148/rg.2019180081.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30620693" target="_blank">30620693</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27638616">Neuroimmune mechanisms in Krabbe's disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Potter GB,
|
||
Petryniak MA</span><br />
|
||
<span class="medgenPMjournal">J Neurosci Res</span>
|
||
2016 Nov;94(11):1341-8.
|
||
doi: 10.1002/jnr.23804.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27638616" target="_blank">27638616</a><a href="/pmc/articles/PMC5129482" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Leukodystrophy%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 (616)</a></div></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/38494502">The natural history and burden of illness of metachromatic leukodystrophy: a systematic literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chang SC,
|
||
Eichinger CS,
|
||
Field P</span><br />
|
||
<span class="medgenPMjournal">Eur J Med Res</span>
|
||
2024 Mar 18;29(1):181.
|
||
doi: 10.1186/s40001-024-01771-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38494502" target="_blank">38494502</a><a href="/pmc/articles/PMC10946116" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38383398">A systematic review on the birth prevalence of metachromatic leukodystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chang SC,
|
||
Bergamasco A,
|
||
Bonnin M,
|
||
Bisonó TA,
|
||
Moride Y</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2024 Feb 21;19(1):80.
|
||
doi: 10.1186/s13023-024-03044-w.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38383398" target="_blank">38383398</a><a href="/pmc/articles/PMC10880320" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37644601">A systematic review of clinical effectiveness and safety for historical and current treatment options for metachromatic leukodystrophy in children, including atidarsagene autotemcel.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Armstrong N,
|
||
Olaye A,
|
||
Noake C,
|
||
Pang F</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2023 Aug 29;18(1):248.
|
||
doi: 10.1186/s13023-023-02814-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37644601" target="_blank">37644601</a><a href="/pmc/articles/PMC10466877" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34875121">Neuroimaging phenotypes of CSF1R-related leukoencephalopathy: Systematic review, meta-analysis, and imaging recommendations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mickeviciute GC,
|
||
Valiuskyte M,
|
||
Plattén M,
|
||
Wszolek ZK,
|
||
Andersen O,
|
||
Danylaité Karrenbauer V,
|
||
Ineichen BV,
|
||
Granberg T</span><br />
|
||
<span class="medgenPMjournal">J Intern Med</span>
|
||
2022 Mar;291(3):269-282.
|
||
Epub 2021 Dec 22
|
||
doi: 10.1111/joim.13420.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34875121" target="_blank">34875121</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30726573">Emerging links between pediatric lysosomal storage diseases and adult parkinsonism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ysselstein D,
|
||
Shulman JM,
|
||
Krainc D</span><br />
|
||
<span class="medgenPMjournal">Mov Disord</span>
|
||
2019 May;34(5):614-624.
|
||
Epub 2019 Feb 6
|
||
doi: 10.1002/mds.27631.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30726573" target="_blank">30726573</a><a href="/pmc/articles/PMC6520126" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Leukodystrophy%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (14)</a></div></div>
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||
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0023520%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (25)</a></li>
|
||
<li><a href="/gtr/tests?term=C0023520%5bDISCUI%5d&test_type=Research" target="_blank">Research (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0023520%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (30)</a></li>
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||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0023520%5bDISCUI%5d" target="_blank">See all (31)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/phenotypicSeries/PS312080" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=68356" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Leukodystrophy" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22leukodystrophy%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">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Leukodystrophy%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul><h3 class="subhead">Curated</h3><ul class="a_poppers"><li><a target="_blank" href="https://publications.aap.org/pediatrics/article/148/3/e2021053126/181065/Leukodystrophies-in-Children-Diagnosis-Care-and">AAP, 2021</a><div>Leukodystrophies in Children: Diagnosis, Care, and Treatment, Pediatrics (2021) 148 (3): e2021053126.</div></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Leukodystrophy/4198" target="_blank">Genetic Alliance</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Leukodystrophy" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/6895/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0023520[DISCUI]" ref="log$=recordlinks">GTR</a>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0023520[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
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<div class="row">
|
||
<div class="col-lg-12 centered-lg">
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||
<nav class="bottom-links">
|
||
<ul class="mt-3">
|
||
<li>
|
||
<a class="text-white" href="//www.nlm.nih.gov/">NLM</a>
|
||
</li>
|
||
<li>
|
||
<a class="text-white" href="https://www.nih.gov/">NIH</a>
|
||
</li>
|
||
<li>
|
||
<a class="text-white" href="https://www.hhs.gov/">HHS</a>
|
||
</li>
|
||
<li>
|
||
<a class="text-white" href="https://www.usa.gov/">USA.gov</a>
|
||
</li>
|
||
</ul>
|
||
</nav>
|
||
</div>
|
||
</div>
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||
</div>
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||
</section>
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<script type="text/javascript" src="/portal/portal3rc.fcgi/rlib/js/InstrumentOmnitureBaseJS/InstrumentNCBIConfigJS/InstrumentNCBIBaseJS/InstrumentPageStarterJS.js?v=1"> </script>
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<script type="text/javascript" src="/portal/portal3rc.fcgi/static/js/hfjs2.js"> </script>
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</div>
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</div>
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</div>
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||
|
||
|
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<script type='text/javascript' src='/portal/js/portal.js'></script><script type="text/javascript" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/js/4221766/3812534/4212053/3812535/3781605/4186313/2499590/3758627/4078478/3908752/3423/4018706/3891418/4212356/4078480/4078479/4025341/4076482/31971/35962/2733373/33966/3397055/4001808.js" snapshot="medgen"></script></body>
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