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<meta name="keywords" content="C4749301, congenital abnormality, isolated lissencephaly sequence, lis1, lissencephaly 1, lissencephaly due to lis1 mutation, lissencephaly sequence, isolated, lissencephaly, classic, pafah1b1, pafah1b1 (platelet activating factor acetylhydrolase 1b regulatory subunit 1) related lissencephaly, pafah1b1-related lissencephaly, subcortical band heterotopia, subcortical laminar heterotopia, 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="PAFAH1B1-related lissencephaly / subcortical band heterotopia (SBH) comprises a spectrum of severity. Affected newborns typically have mild-to-moderate hypotonia, feeding difficulties, and poor head control. During the first years, neurologic examination typically demonstrates poor visual tracking and response to sounds, axial hypotonia, and mild distal spasticity that can transition over time to more severe spasticity. Seizures occur in more than 90% of individuals with lissencephaly and often include infantile spasms. Seizures are often drug resistant, but even with good seizure control, the best developmental level achieved (excluding the few individuals with partial lissencephaly) is the equivalent of about age three to five months. In individuals with PAFAH1B1-related lissencephaly/SBH, developmental delay ranges from mild to severe. Other findings in PAFAH1B1-related lissencephaly/SBH include feeding issues and aspiration (which may result in need for gastrostomy tube placement), progressive microcephaly, and occasional developmental regression." /><meta name="robots" content="index,nofollow,noarchive" />
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<div><div class="rprt full-rprt"><div class="portlet" style="border-top-style: none; margin-top: 0px; padding-top: 0px; margin-bottom: 0px; padding-left: 0.2em;">
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<!--
|
||
UID=1657090
|
||
ConceptID=C4749301
|
||
-->
|
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<!--imgCountBooks = 1--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Image</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK5189/bin/chrom17-lis-Image001.gif" src-large="/books/NBK5189/bin/chrom17-lis-Image001.jpg" /></a><br /><a href="/books/NBK5189/figure/chrom17-lis.F1/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Lissencephaly due to LIS1 mutation<span class="h1sub">(LIS1)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1657090</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:">C4749301</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Isolated Lissencephaly Sequence; LIS1</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>PAFAH1B1-related lissencephaly (770560008); PAFAH1B1 (platelet activating factor acetylhydrolase 1b regulatory subunit 1) related lissencephaly (770560008); Lissencephaly due to LIS1 mutation (770560008)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="PAFAH1B1 - ID: 5048 - NCBI Gene" href="/gene/5048" class="medgenPMinfo">PAFAH1B1</a> (17p13.3)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0011830" target="_blank">MONDO:0011830</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/607432" target="_blank">607432</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=95232">ORPHA95232</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_101">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK5189" target="_blank">PAFAH1B1-Related Lissencephaly / Subcortical Band Heterotopia</a></div><div>PAFAH1B1-related lissencephaly / subcortical band heterotopia (SBH) comprises a spectrum of severity. Affected newborns typically have mild-to-moderate hypotonia, feeding difficulties, and poor head control. During the first years, neurologic examination typically demonstrates poor visual tracking and response to sounds, axial hypotonia, and mild distal spasticity that can transition over time to more severe spasticity. Seizures occur in more than 90% of individuals with lissencephaly and often include infantile spasms. Seizures are often drug resistant, but even with good seizure control, the best developmental level achieved (excluding the few individuals with partial lissencephaly) is the equivalent of about age three to five months. In individuals with PAFAH1B1-related lissencephaly/SBH, developmental delay ranges from mild to severe. Other findings in PAFAH1B1-related lissencephaly/SBH include feeding issues and aspiration (which may result in need for gastrostomy tube placement), progressive microcephaly, and occasional developmental regression. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK5189#chrom17-lis.Summary" target="NBK5189">Summary</a> | <a class="medgenPMinfo" href="/books/NBK5189#chrom17-lis.GeneReview_Scope" target="NBK5189">GeneReview Scope</a> | <a class="medgenPMinfo" href="/books/NBK5189#chrom17-lis.Diagnosis" target="NBK5189">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK5189#chrom17-lis.Clinical_Characteristics" target="NBK5189">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK5189#chrom17-lis.Genetically_Related_Allelic" target="NBK5189">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK5189#chrom17-lis.Differential_Diagnosis" target="NBK5189">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK5189#chrom17-lis.Management" target="NBK5189">Management</a> | <a class="medgenPMinfo" href="/books/NBK5189#chrom17-lis.Genetic_Counseling" target="NBK5189">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK5189#chrom17-lis.Resources" target="NBK5189">Resources</a> | <a class="medgenPMinfo" href="/books/NBK5189#chrom17-lis.Molecular_Genetics" target="NBK5189">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK5189#chrom17-lis.Chapter_Notes" target="NBK5189">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK5189#chrom17-lis.References" target="NBK5189">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Stefanie Brock | William B Dobyns | Anna Jansen <a href="/books/NBK5189" target="NBK5189" title="NCBI Bookshelf: PAFAH1B1-Related Lissencephaly / Subcortical Band Heterotopia">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_342926"><div><strong>Dilation of Virchow-Robin spaces</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>342926</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.">C1853618</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased dimensions of the Virchow-Robin spaces (also known as perivascular spaces), which surround the walls of vessels as they course from the subarachnoid space through the brain parenchyma. Perivascular spaces are commonly microscopic, and not visible on conventional neuroimaging. This term refers to an increase of size of these spaces such that they are visible on neuroimaging (usually magnetic resonance imaging). The dilatations are regular cavities that always contain a patent artery.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/342926">Feature record</a> | <a href="/medgen?term=%22Dilation%20of%20Virchow-Robin%20spaces%22%5BClinical%20Features%5D%20OR%20342926%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_20693"><div><strong>Seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>20693</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0036572</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/20693">Feature record</a> | <a href="/medgen?term=%22Seizure%22%5BClinical%20Features%5D%20OR%2020693%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_78604"><div><strong>Lissencephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78604</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.">C0266463</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A spectrum of malformations of cortical development caused by insufficient neuronal migration that subsumes the terms agyria, pachygyria and subcortical band heterotopia. See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78604">Feature record</a> | <a href="/medgen?term=%22Lissencephaly%22%5BClinical%20Features%5D%20OR%2078604%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_120578"><div><strong>Cerebellar hypoplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120578</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.">C0266470</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
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||
<div class="spaceAbove">Cerebellar hypoplasia is a descriptive term implying a cerebellum with a reduced volume, but a normal shape and is stable over time.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/120578">Feature record</a> | <a href="/medgen?term=%22Cerebellar%20hypoplasia%22%5BClinical%20Features%5D%20OR%20120578%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_120579"><div><strong>Macrogyria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120579</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.">C0266483</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Pachygyria is a malformation of cortical development with abnormally wide gyri with sulci 1,5-3 cm apart and abnormally thick cortex measuring more than 5 mm (radiological definition). See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120579">Feature record</a> | <a href="/medgen?term=%22Macrogyria%22%5BClinical%20Features%5D%20OR%20120579%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_452349"><div><strong>Gray matter heterotopia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>452349</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.">C0266491</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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||
<div class="spaceAbove">Heterotopia or neuronal heterotopia are macroscopic clusters of misplaced neurons (gray matter), most often situated along the ventricular walls or within the subcortical white matter.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/452349">Feature record</a> | <a href="/medgen?term=%22Gray%20matter%20heterotopia%22%5BClinical%20Features%5D%20OR%20452349%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_107838"><div><strong>Global developmental delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107838</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0557874</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/107838">Feature record</a> | <a href="/medgen?term=%22Global%20developmental%20delay%22%5BClinical%20Features%5D%20OR%20107838%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_658719"><div><strong>Spastic tetraparesis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>658719</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.">C0575059</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spastic weakness affecting all four limbs.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/658719">Feature record</a> | <a href="/medgen?term=%22Spastic%20tetraparesis%22%5BClinical%20Features%5D%20OR%20658719%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_181756"><div><strong>Abnormal cerebral white matter morphology</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>181756</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.">C0948163</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormality of the cerebral white matter.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/181756">Feature record</a> | <a href="/medgen?term=%22Abnormal%20cerebral%20white%20matter%20morphology%22%5BClinical%20Features%5D%20OR%20181756%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_334226"><div><strong>Hypoplasia of the brainstem</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>334226</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.">C1842688</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Underdevelopment of the brainstem.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/334226">Feature record</a> | <a href="/medgen?term=%22Hypoplasia%20of%20the%20brainstem%22%5BClinical%20Features%5D%20OR%20334226%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_336288"><div><strong>Subcortical band heterotopia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336288</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.">C1848201</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Subcortical band heterotopia is a condition in which nerve cells (neurons) do not move (migrate) to their proper locations in the fetal brain during early development. (Heterotopia means "out of place.") Normally, the neurons that make up the outer surface of the brain (cerebral cortex) are distributed in a well-organized and multi-layered way. In people with subcortical band heterotopia, some neurons that should be part of the cerebral cortex do not reach it. These neurons stop their migration process in areas of the brain where they are not supposed to be and form band-like clusters of tissue. Since these bands are located beneath the cerebral cortex, they are said to be subcortical. In most cases, the bands are symmetric, which means they occur in the same places on the right and left sides of the brain.\n\nThe abnormal brain development causes neurological problems in people with subcortical band heterotopia. The signs and symptoms of the condition depend on the size of the bands and the lack of development of the cerebral cortex. The signs and symptoms can vary from severe intellectual disability and seizures that begin early in life and affect both sides of the brain (generalized seizures) to normal intelligence with seizures occurring later in life and affecting only one side of the brain (focal seizures). Some affected individuals also have weak muscle tone (hypotonia), loss of fine motor skills such as using utensils, or behavioral problems. Subcortical band heterotopia is typically found when brain imaging is done following the onset of seizures, usually in adolescence or early adulthood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/336288">Feature record</a> | <a href="/medgen?term=%22Subcortical%20band%20heterotopia%22%5BClinical%20Features%5D%20OR%20336288%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_361827"><div><strong>Agyria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>361827</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.">C1879312</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A congenital abnormality of the cerebral hemisphere characterized by lack of gyrations (convolutions) of the cerebral cortex. Agyria is defined as cortical regions lacking gyration with sulci great than 3 cm apart and cerebral cortex thicker than 5 mm.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/361827">Feature record</a> | <a href="/medgen?term=%22Agyria%22%5BClinical%20Features%5D%20OR%20361827%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_480553"><div><strong>Ventriculomegaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>480553</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.">C3278923</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increase in size of the ventricular system of the brain.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/480553">Feature record</a> | <a href="/medgen?term=%22Ventriculomegaly%22%5BClinical%20Features%5D%20OR%20480553%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_811461"><div><strong>Intellectual disability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811461</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3714756</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/811461">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%22%5BClinical%20Features%5D%20OR%20811461%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_608952"><div><strong>Secondary microcephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>608952</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0431352</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Head circumference which falls below 2 standard deviations below the mean for age and gender because of insufficient head growth after birth.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/608952">Feature record</a> | <a href="/medgen?term=%22Secondary%20microcephaly%22%5BClinical%20Features%5D%20OR%20608952%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_342959"><div><strong>Axial hypotonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>342959</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1853743</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/342959">Feature record</a> | <a href="/medgen?term=%22Axial%20hypotonia%22%5BClinical%20Features%5D%20OR%20342959%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of the cardiovascular system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_342926" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dilation of Virchow-Robin spaces</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_342959" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Axial hypotonia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_608952" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Secondary microcephaly</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_181756" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal cerebral white matter morphology</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_361827" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Agyria</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_120578" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebellar hypoplasia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_107838" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Global developmental delay</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_452349" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gray matter heterotopia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_334226" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypoplasia of the brainstem</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_811461" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_78604" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lissencephaly</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_120579" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Macrogyria</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_20693" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_658719" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spastic tetraparesis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_336288" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Subcortical band heterotopia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_480553" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ventriculomegaly</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1955869[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=364975">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/364975" ref="tree=GTR&ncbi_uid=364975&link_uid=364975" title="View MedGen record for 'Malformation of cortical development'">Malformation of cortical development</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0266463[DISCUI]&test_type=Clinical" ref="ncbi_uid=78604">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=78604" ref="ncbi_uid=78604">V</a></span></span><span class="TLline"><a href="/medgen/78604" ref="tree=GTR&ncbi_uid=78604&link_uid=78604" title="View MedGen record for 'Lissencephaly'">Lissencephaly</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/361827" ref="tree=GTR&ncbi_uid=361827&link_uid=361827" title="View MedGen record for 'Agyria'">Agyria</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3554657[DISCUI]&test_type=Clinical" ref="ncbi_uid=767571">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=767571" target="_blank" href="/omim/150240">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=767571" ref="ncbi_uid=767571">V</a></span></span><span class="TLline"><a href="/medgen/767571" ref="tree=GTR&ncbi_uid=767571&link_uid=767571" title="View MedGen record for 'Cobblestone lissencephaly without muscular or ocular involvement'">Cobblestone lissencephaly without muscular or ocular involvement</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4749301[DISCUI]&test_type=Clinical" ref="ncbi_uid=1657090">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK5189/" ref="ncbi_uid=1657090">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1657090" ref="ncbi_uid=1657090">V</a></span></span><span class="TLline">Lissencephaly due to LIS1 mutation</span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0265219[DISCUI]&test_type=Clinical" ref="ncbi_uid=78538">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=78538" target="_blank" href="/omim/247200">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK5189/" ref="ncbi_uid=78538">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=78538" ref="ncbi_uid=78538">V</a></span></span><span class="TLline"><a href="/medgen/78538" ref="tree=GTR&ncbi_uid=78538&link_uid=78538" title="View MedGen record for 'Miller Dieker syndrome'">Miller Dieker syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1848201[DISCUI]&test_type=Clinical" ref="ncbi_uid=336288">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=336288" target="_blank" href="/omim/300067">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=336288" ref="ncbi_uid=336288">V</a></span></span><span class="TLline"><a href="/medgen/336288" ref="tree=GTR&ncbi_uid=336288&link_uid=336288" title="View MedGen record for 'Subcortical band heterotopia'">Subcortical band heterotopia</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4305153[DISCUI]&test_type=Clinical" ref="ncbi_uid=930822">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=930822" target="_blank" href="/omim/602529">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK350554/" ref="ncbi_uid=930822">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=930822" ref="ncbi_uid=930822">V</a></span></span><span class="TLline"><a href="/medgen/930822" ref="tree=GTR&ncbi_uid=930822&link_uid=930822" title="View MedGen record for 'Lissencephaly due to TUBA1A mutation'">Lissencephaly due to TUBA1A mutation</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4551968[DISCUI]&test_type=Clinical" ref="ncbi_uid=1644310">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1644310" target="_blank" href="/omim/300067">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1185/" ref="ncbi_uid=1644310">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1644310" ref="ncbi_uid=1644310">V</a></span></span><span class="TLline"><a href="/medgen/1644310" ref="tree=GTR&ncbi_uid=1644310&link_uid=1644310" title="View MedGen record for 'Lissencephaly type 1 due to doublecortin gene mutation'">Lissencephaly type 1 due to doublecortin gene mutation</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0796089[DISCUI]&test_type=Clinical" ref="ncbi_uid=163213">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=163213" target="_blank" href="/omim/257320">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=163213" ref="ncbi_uid=163213">V</a></span></span><span class="TLline"><a href="/medgen/163213" ref="tree=GTR&ncbi_uid=163213&link_uid=163213" title="View MedGen record for 'Norman-Roberts syndrome'">Norman-Roberts syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1846171[DISCUI]&test_type=Clinical" ref="ncbi_uid=375832">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=375832" target="_blank" href="/omim/300215">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=375832" ref="ncbi_uid=375832">V</a></span></span><span class="TLline"><a href="/medgen/375832" ref="tree=GTR&ncbi_uid=375832&link_uid=375832" title="View MedGen record for 'X-linked lissencephaly with abnormal genitalia'">X-linked lissencephaly with abnormal genitalia</a></span></li></ul></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/866620" ref="tree=MeSH" title="MedGen record for Abnormal forebrain morphology">Abnormal forebrain morphology</a></span><ul><li><span class="TLline"><a href="/medgen/867394" ref="tree=MeSH" title="MedGen record for Abnormal cerebral morphology">Abnormal cerebral morphology</a></span><ul><li><span class="TLline"><a href="/medgen/871221" ref="tree=MeSH" title="MedGen record for Abnormal cerebral cortex morphology">Abnormal cerebral cortex morphology</a></span><ul><li><span class="TLline"><a href="/medgen/343457" ref="tree=MeSH" title="MedGen record for Abnormal cortical gyration">Abnormal cortical gyration</a></span><ul><li><span class="TLline"><a href="/medgen/78604" ref="tree=MeSH" title="MedGen record for Lissencephaly">Lissencephaly</a></span><ul><li><span class="TLline"><a href="/medgen/98463" ref="tree=MeSH" title="MedGen record for Classic lissencephaly">Classic lissencephaly</a></span><ul><li><span class="matched_ds">Lissencephaly due to LIS1 mutation</span><ul><li><span class="TLline"><a href="/medgen/78538" ref="tree=MeSH" title="MedGen record for Miller Dieker syndrome">Miller Dieker syndrome</a></span></li><li><span class="TLline"><a href="/medgen/336288" ref="tree=MeSH" title="MedGen record for Subcortical band heterotopia">Subcortical band heterotopia</a></span><ul><li><span class="TLline"><a href="/medgen/1703799" ref="tree=MeSH" title="MedGen record for Anterior predominant subcortical band heterotopia">Anterior predominant subcortical band heterotopia</a></span></li><li><span class="TLline"><a href="/medgen/1689721" ref="tree=MeSH" title="MedGen record for Diffuse subcortical band heterotopia">Diffuse subcortical band heterotopia</a></span></li><li><span class="TLline"><a href="/medgen/1691332" ref="tree=MeSH" title="MedGen record for Posterior predominant subcortical band heterotopia">Posterior predominant subcortical band heterotopia</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
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<div class="portlet mgSection" id="ID_105">
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<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/15921231">Genotype-phenotype correlation in lissencephaly and subcortical band heterotopia: the key questions answered.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Leventer RJ</span><br />
|
||
<span class="medgenPMjournal">J Child Neurol</span>
|
||
2005 Apr;20(4):307-12.
|
||
doi: 10.1177/08830738050200040701.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15921231" target="_blank">15921231</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12185771">Epileptogenic brain malformations: clinical presentation, malformative patterns and indications for genetic testing.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guerrini R,
|
||
Carrozzo R</span><br />
|
||
<span class="medgenPMjournal">Seizure</span>
|
||
2002 Apr;11 Suppl A:532-43; quiz 544-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12185771" target="_blank">12185771</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11749114">Epileptogenic brain malformations: clinical presentation, malformative patterns and indications for genetic testing.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guerrini R,
|
||
Carrozzo R</span><br />
|
||
<span class="medgenPMjournal">Seizure</span>
|
||
2001 Oct;10(7):532-43; quiz 544-7.
|
||
doi: 10.1053/seiz.2001.0650.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11749114" target="_blank">11749114</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(lissencephaly%20due%20to%20lis1%20mutation)%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 (5)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33453472">Lissencephaly in an epilepsy cohort: Molecular, radiological and clinical aspects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kolbjer S,
|
||
Martin DA,
|
||
Pettersson M,
|
||
Dahlin M,
|
||
Anderlid BM</span><br />
|
||
<span class="medgenPMjournal">Eur J Paediatr Neurol</span>
|
||
2021 Jan;30:71-81.
|
||
Epub 2021 Jan 8
|
||
doi: 10.1016/j.ejpn.2020.12.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33453472" target="_blank">33453472</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21222180">Molecular genetics of neuronal migration disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liu JS</span><br />
|
||
<span class="medgenPMjournal">Curr Neurol Neurosci Rep</span>
|
||
2011 Apr;11(2):171-8.
|
||
doi: 10.1007/s11910-010-0176-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21222180" target="_blank">21222180</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19245832">Neuronal migration disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guerrini R,
|
||
Parrini E</span><br />
|
||
<span class="medgenPMjournal">Neurobiol Dis</span>
|
||
2010 May;38(2):154-66.
|
||
Epub 2009 Feb 23
|
||
doi: 10.1016/j.nbd.2009.02.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19245832" target="_blank">19245832</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11754098">Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cardoso C,
|
||
Leventer RJ,
|
||
Dowling JJ,
|
||
Ward HL,
|
||
Chung J,
|
||
Petras KS,
|
||
Roseberry JA,
|
||
Weiss AM,
|
||
Das S,
|
||
Martin CL,
|
||
Pilz DT,
|
||
Dobyns WB,
|
||
Ledbetter DH</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
2002 Jan;19(1):4-15.
|
||
doi: 10.1002/humu.10028.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11754098" target="_blank">11754098</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10987567">Classical lissencephaly and double cortex (subcortical band heterotopia): LIS1 and doublecortin.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gleeson JG</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Neurol</span>
|
||
2000 Apr;13(2):121-5.
|
||
doi: 10.1097/00019052-200004000-00002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10987567" target="_blank">10987567</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Lissencephaly%20due%20to%20LIS1%20mutation%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 (33)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/24862549">The genetics of lissencephaly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fry AE,
|
||
Cushion TD,
|
||
Pilz DT</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2014 Jun;166C(2):198-210.
|
||
Epub 2014 May 23
|
||
doi: 10.1002/ajmg.c.31402.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24862549" target="_blank">24862549</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23622213">Diffuse malformations of cortical development.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bahi-Buisson N,
|
||
Guerrini R</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2013;111:653-65.
|
||
doi: 10.1016/B978-0-444-52891-9.00068-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23622213" target="_blank">23622213</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12820004">Molecular genetics of central nervous system malformations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Forestier F</span><br />
|
||
<span class="medgenPMjournal">Childs Nerv Syst</span>
|
||
2003 Aug;19(7-8):440-3.
|
||
Epub 2003 Jun 19
|
||
doi: 10.1007/s00381-003-0785-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12820004" target="_blank">12820004</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10859564">Lissencephaly and subcortical band heterotopia: molecular basis and diagnosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Leventer RJ,
|
||
Pilz DT,
|
||
Matsumoto N,
|
||
Ledbetter DH,
|
||
Dobyns WB</span><br />
|
||
<span class="medgenPMjournal">Mol Med Today</span>
|
||
2000 Jul;6(7):277-84.
|
||
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|
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|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Lissencephaly%20due%20to%20LIS1%20mutation%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 (3)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/33453472">Lissencephaly in an epilepsy cohort: Molecular, radiological and clinical aspects.</a></div>
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Martin DA,
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Pettersson M,
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<span class="bold">PMID: </span><a href="/pubmed/33453472" target="_blank">33453472</a></div>
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Chiari S,
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Mirzaa GM,
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Aldinger K,
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||
<div class="nl"><a target="_blank" href="/pubmed/17664403">Location and type of mutation in the LIS1 gene do not predict phenotypic severity.</a></div>
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<span class="bold">PMID: </span><a href="/pubmed/15921231" target="_blank">15921231</a></div>
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||
<div class="nl"><a target="_blank" href="/pubmed/9817918">LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Pilz DT,
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Matsumoto N,
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Minnerath S,
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Mills P,
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Gleeson JG,
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Allen KM,
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Walsh CA,
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Barkovich AJ,
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Dobyns WB,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Lissencephaly%20due%20to%20LIS1%20mutation%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 (26)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33453472">Lissencephaly in an epilepsy cohort: Molecular, radiological and clinical aspects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kolbjer S,
|
||
Martin DA,
|
||
Pettersson M,
|
||
Dahlin M,
|
||
Anderlid BM</span><br />
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||
<span class="medgenPMjournal">Eur J Paediatr Neurol</span>
|
||
2021 Jan;30:71-81.
|
||
Epub 2021 Jan 8
|
||
doi: 10.1016/j.ejpn.2020.12.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33453472" target="_blank">33453472</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28440899">Lissencephaly: Expanded imaging and clinical classification.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Di Donato N,
|
||
Chiari S,
|
||
Mirzaa GM,
|
||
Aldinger K,
|
||
Parrini E,
|
||
Olds C,
|
||
Barkovich AJ,
|
||
Guerrini R,
|
||
Dobyns WB</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2017 Jun;173(6):1473-1488.
|
||
Epub 2017 Apr 25
|
||
doi: 10.1002/ajmg.a.38245.
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<span class="bold">PMID: </span><a href="/pubmed/28440899" target="_blank">28440899</a><a href="/pmc/articles/PMC5526446" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22393875">A unique role of dynein and nud family proteins in corticogenesis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Toba S,
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<span class="medgenPMjournal">Neuropathology</span>
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Epub 2012 Mar 7
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<span class="bold">PMID: </span><a href="/pubmed/22393875" target="_blank">22393875</a></div>
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||
<div class="nl"><a target="_blank" href="/pubmed/15921227">Neuronal migration in developmental disorders.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">McManus MF,
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<span class="medgenPMjournal">J Child Neurol</span>
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<span class="bold">PMID: </span><a href="/pubmed/15921227" target="_blank">15921227</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11803439">LIS1-no more no less.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Reiner O,
|
||
Cahana A,
|
||
Escamez T,
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Martinez S</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/11803439" target="_blank">11803439</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Lissencephaly%20due%20to%20LIS1%20mutation%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 (49)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
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|
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|
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|
||
|
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|
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</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
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|
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<div>
|
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|
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C4749301%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (40)</a></li>
|
||
<li><a href="/gtr/tests?term=C4749301%5bDISCUI%5d&filter=method%3A3%5F23" target="_blank">FISH-interphase (3)</a></li>
|
||
<li><a href="/gtr/tests?term=C4749301%5bDISCUI%5d&filter=method%3A3%5F24" target="_blank">FISH-metaphase (5)</a></li>
|
||
<li><a href="/gtr/tests?term=C4749301%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C4749301%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (38)</a></li>
|
||
<li><a href="/gtr/tests?term=C4749301%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (9)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C4749301%5bDISCUI%5d" target="_blank">See all (58)</a></total></li>
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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=(lissencephaly%20due%20to%20lis1%20mutation)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Lissencephaly+1/4269" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/lissencephaly_1" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Lissencephaly%20due%20to%20LIS1%20mutation" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/16838/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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