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<meta name="keywords" content="C4551968, dc syndrome, dcx, dcx-related lissencephaly, disease or syndrome, double cortex syndrome, lissencephaly and agenesis of corpus callosum, lissencephaly type 1 due to doublecortin gene mutation, lissencephaly x-linked, lissencephaly, x-linked, lissencephaly, x-linked, 1, lissencephaly, x-linked, type 1, lisx, lisx1, subcortical band heterotopia, x-linked, subcortical laminal heterotopia, x-linked, subcortical laminar heterotopia, x-linked, subcortical laminar heterotopia, x-linked,, x-linked lissencephaly, x-linked lissencephaly type 1, xlis, 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="DCX-related disorders include the neuronal migration disorders: Classic thick lissencephaly (more severe anteriorly), usually in males. Subcortical band heterotopia (SBH), primarily in females. Males with classic DCX-related lissencephaly typically have early and profound cognitive and language impairment, cerebral palsy, and epileptic seizures. The clinical phenotype in females with SBH varies widely with cognitive abilities that range from average or mild cognitive impairment to severe intellectual disability and language impairment. Seizures, which frequently are refractory to anti-seizure medication, may be either focal or generalized and behavioral problems may also be observed. In DCX-related lissencephaly and SBH the severity of the clinical manifestation correlates roughly with the degree of the underlying brain malformation as observed in cerebral imaging." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=1644310
|
||
ConceptID=C4551968
|
||
-->
|
||
<!--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/NBK1185/bin/dcx-Image001.gif" src-large="/books/NBK1185/bin/dcx-Image001.jpg" /></a><br /><a href="/books/NBK1185/figure/dcx.F1/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Lissencephaly type 1 due to doublecortin gene mutation<span class="h1sub">(LISX1)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1644310</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.">C4551968</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>DCX-Related Lissencephaly; LISSENCEPHALY AND AGENESIS OF CORPUS CALLOSUM; LISSENCEPHALY, X-LINKED, 1</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_375779"><div><strong>X-linked recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375779</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.">C1845977</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/375779">This record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_375779" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked recessive inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="DCX - ID: 1641 - NCBI Gene" href="/gene/1641" class="medgenPMinfo">DCX</a> (Xq23)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0010239" target="_blank">MONDO:0010239</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/300067" target="_blank">300067</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=2148">ORPHA2148</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
||
<div class="portlet mgSection" id="ID_101">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK1185" target="_blank">DCX-Related Disorders</a></div><div>DCX-related disorders include the neuronal migration disorders: Classic thick lissencephaly (more severe anteriorly), usually in males. Subcortical band heterotopia (SBH), primarily in females. Males with classic DCX-related lissencephaly typically have early and profound cognitive and language impairment, cerebral palsy, and epileptic seizures. The clinical phenotype in females with SBH varies widely with cognitive abilities that range from average or mild cognitive impairment to severe intellectual disability and language impairment. Seizures, which frequently are refractory to anti-seizure medication, may be either focal or generalized and behavioral problems may also be observed. In DCX-related lissencephaly and SBH the severity of the clinical manifestation correlates roughly with the degree of the underlying brain malformation as observed in cerebral imaging. [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/NBK1185#dcx.Summary" target="NBK1185">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1185#dcx.GeneReview_Scope" target="NBK1185">GeneReview Scope</a> | <a class="medgenPMinfo" href="/books/NBK1185#dcx.Diagnosis" target="NBK1185">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1185#dcx.Clinical_Characteristics" target="NBK1185">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1185#dcx.Genetically_Related_Allelic_Disorder" target="NBK1185">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1185#dcx.Differential_Diagnosis" target="NBK1185">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1185#dcx.Management" target="NBK1185">Management</a> | <a class="medgenPMinfo" href="/books/NBK1185#dcx.Genetic_Counseling" target="NBK1185">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1185#dcx.Resources" target="NBK1185">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1185#dcx.Molecular_Genetics" target="NBK1185">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1185#dcx.Chapter_Notes" target="NBK1185">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1185#dcx.References" target="NBK1185">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Ute Hehr | Gökhan Uyanik | Ludwig Aigner<i>, et. al.</i> <a href="/books/NBK1185" target="NBK1185" title="NCBI Bookshelf: DCX-Related Disorders">view full author information</a></div></div>
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||
</div>
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||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_descriptions">Additional descriptions</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Lissencephaly ('smooth brain') results from migrational arrest of cortical neurons short of their normal destination, and can result in profoundly impaired intellectual development and seizures. In X-linked lissencephaly-1, affected males generally have more a severe phenotype compared to females. DCX mutations cause classic lissencephaly with impaired intellectual development in hemizygous males and a milder phenotype known as subcortical band heterotopia in females, sometimes in the same family. The subcortical lamina heterotopia found in heterozygous females is also referred to as 'double cortex' (DC) syndrome (des Portes et al., 1997).
|
||
For a general phenotypic description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (607432).
|
||
There are several X-linked loci that affect neuronal migration, including the Aicardi locus (304050). <a target="_blank" href="http://www.omim.org/entry/300067">http://www.omim.org/entry/300067</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Isolated lissencephaly sequence (ILS) is a condition that affects brain development before birth. Normally, the cells that make up the exterior of the brain (cerebral cortex) are well-organized, multi-layered, and arranged into many folds and grooves (gyri). In people with ILS, the cells of the cerebral cortex are disorganized, and the brain surface is abnormally smooth with an absence (agyria) or reduction (pachygyria) of folds and grooves. In most cases, these abnormalities impair brain growth, causing the brain to be smaller than normal (microcephaly). This underdevelopment of the brain causes severe intellectual disability, delayed development, and recurrent seizures (epilepsy) in individuals with ILS.<br /><br />More than 90 percent of individuals with ILS develop epilepsy, often within the first year of life. Up to 80 percent of infants with ILS have a type of seizure called infantile spasms, these seizures can be severe enough to cause brain dysfunction (epileptic encephalopathy). After the first months of life, most children with ILS develop a variety of seizure types, including persisting infantile spasms, short periods of loss of consciousness (absence seizures); sudden episodes of weak muscle tone (drop attacks); rapid, uncontrolled muscle jerks (myoclonic seizures); and episodes of muscle rigidity, convulsions, and loss of consciousness (tonic-clonic seizures).<br /><br />Infants with ILS may have poor muscle tone (hypotonia) and difficulty feeding, which leads to poor growth overall. Hypotonia also affects the muscles used for breathing, which often causes breathing problems that can lead to a life-threatening bacterial lung infection known as aspiration pneumonia. Children with ILS often develop muscle stiffness (spasticity) in their arms and legs and an abnormal side-to-side curvature of the spine (scoliosis). Rarely, the muscle stiffness will progress to paralysis (spastic paraplegia). Individuals with ILS cannot walk and rarely crawl. Most children with ILS do not develop communication skills. <a target="_blank" href="https://medlineplus.gov/genetics/condition/isolated-lissencephaly-sequence">https://medlineplus.gov/genetics/condition/isolated-lissencephaly-sequence</a></div></div>
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</div>
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<div class="portlet mgSection" id="ID_102">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
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<div class="divPopper rprt" id="clin_1633603"><div><strong>Micropenis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1633603</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.">C4551492</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
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<div class="spaceAbove">Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1633603">Feature record</a> | <a href="/medgen?term=%22Micropenis%22%5BClinical%20Features%5D%20OR%201633603%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_395343"><div><strong>Postnatal growth retardation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>395343</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.">C1859778</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">Slow or limited growth after birth.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/395343">Feature record</a> | <a href="/medgen?term=%22Postnatal%20growth%20retardation%22%5BClinical%20Features%5D%20OR%20395343%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_849"><div><strong>Cerebellar ataxia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>849</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.">C0007758</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/849">Feature record</a> | <a href="/medgen?term=%22Cerebellar%20ataxia%22%5BClinical%20Features%5D%20OR%20849%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_8510"><div><strong>Dysarthria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8510</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0013362</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
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<div class="spaceAbove">Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/8510">Feature record</a> | <a href="/medgen?term=%22Dysarthria%22%5BClinical%20Features%5D%20OR%208510%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_7753"><div><strong>Spasticity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7753</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0026838</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
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<div class="spaceAbove">A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/7753">Feature record</a> | <a href="/medgen?term=%22Spasticity%22%5BClinical%20Features%5D%20OR%207753%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_20693"><div><strong>Seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>20693</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0036572</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
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<div class="spaceAbove">A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/20693">Feature record</a> | <a href="/medgen?term=%22Seizure%22%5BClinical%20Features%5D%20OR%2020693%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_104498"><div><strong>Corpus callosum, agenesis of</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>104498</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.">C0175754</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
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<div class="spaceAbove">The corpus callosum is the largest fiber tract in the central nervous system and the major interhemispheric fiber bundle in the brain. Formation of the corpus callosum begins as early as 6 weeks' gestation, with the first fibers crossing the midline at 11 to 12 weeks' gestation, and completion of the basic shape by age 18 to 20 weeks (Schell-Apacik et al., 2008). Agenesis of the corpus callosum (ACC) is one of the most frequent malformations in brain with a reported incidence ranging between 0.5 and 70 in 10,000 births. ACC is a clinically and genetically heterogeneous condition, which can be observed either as an isolated condition or as a manifestation in the context of a congenital syndrome (see MOLECULAR GENETICS and Dobyns, 1996). Also see mirror movements-1 and/or agenesis of the corpus callosum (MRMV1; 157600). Schell-Apacik et al. (2008) noted that there is confusion in the literature regarding radiologic terminology concerning partial absence of the corpus callosum, where various designations have been used, including hypogenesis, hypoplasia, partial agenesis, or dysgenesis.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/104498">Feature record</a> | <a href="/medgen?term=%22Corpus%20callosum%2C%20agenesis%20of%22%5BClinical%20Features%5D%20OR%20104498%5Buid%5D">Search on this feature</a></div></div>
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<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>
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<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>
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<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>
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<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>
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<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>
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<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>
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<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>
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<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>
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<div class="divPopper rprt" id="clin_381392"><div><strong>Motor delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>381392</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1854301</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">A type of Developmental delay characterized by a delay in acquiring motor skills.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/381392">Feature record</a> | <a href="/medgen?term=%22Motor%20delay%22%5BClinical%20Features%5D%20OR%20381392%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_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>
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<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>
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<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>
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<div class="divPopper rprt" id="clin_811461"><div><strong>Intellectual disability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811461</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3714756</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
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<div class="spaceAbove">Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/811461">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%22%5BClinical%20Features%5D%20OR%20811461%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_342959"><div><strong>Axial hypotonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>342959</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1853743</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/342959">Feature record</a> | <a href="/medgen?term=%22Axial%20hypotonia%22%5BClinical%20Features%5D%20OR%20342959%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_45166"><div><strong>Nystagmus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>45166</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0028738</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/45166">Feature record</a> | <a href="/medgen?term=%22Nystagmus%22%5BClinical%20Features%5D%20OR%2045166%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_45166" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nystagmus</a></span></li></ul></li><li><span class="TLline">Abnormality of the genitourinary system</span><ul><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1633603" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Micropenis</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
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<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></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
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<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">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_849" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebellar ataxia</a></span></li><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_104498" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Corpus callosum, agenesis of</a></span></li><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8510" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dysarthria</a></span></li><li class="TLline">
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<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">
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<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">
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<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">
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<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">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_381392" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Motor delay</a></span></li><li class="TLline">
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<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">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7753" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spasticity</a></span></li></ul></li><li><span class="TLline">Growth abnormality</span><ul><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_395343" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Postnatal growth retardation</a></span></li></ul></li></ul></div></div>
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</div>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="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="TLclosed"><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"><a href="/medgen/1657090" ref="tree=GTR&ncbi_uid=1657090&link_uid=1657090" title="View MedGen record for 'Lissencephaly due to LIS1 mutation'">Lissencephaly due to LIS1 mutation</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=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="matched_ds"><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">Lissencephaly type 1 due to doublecortin gene mutation</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 type 1 due to doublecortin gene mutation</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/27292316">A novel DCX missense mutation in a family with X-linked lissencephaly and subcortical band heterotopia syndrome inherited from a low-level somatic mosaic mother: Genetic and functional studies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tsai MH,
|
||
Kuo PW,
|
||
Myers CT,
|
||
Li SW,
|
||
Lin WC,
|
||
Fu TY,
|
||
Chang HY,
|
||
Mefford HC,
|
||
Chang YC,
|
||
Tsai JW</span><br />
|
||
<span class="medgenPMjournal">Eur J Paediatr Neurol</span>
|
||
2016 Sep;20(5):788-94.
|
||
Epub 2016 May 30
|
||
doi: 10.1016/j.ejpn.2016.05.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27292316" target="_blank">27292316</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19050731">Intragenic deletions and duplications of the LIS1 and DCX genes: a major disease-causing mechanism in lissencephaly and subcortical band heterotopia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Haverfield EV,
|
||
Whited AJ,
|
||
Petras KS,
|
||
Dobyns WB,
|
||
Das S</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2009 Jul;17(7):911-8.
|
||
Epub 2008 Dec 3
|
||
doi: 10.1038/ejhg.2008.213.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19050731" target="_blank">19050731</a><a href="/pmc/articles/PMC2986498" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18685874">The location of DCX mutations predicts malformation severity in X-linked lissencephaly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Leger PL,
|
||
Souville I,
|
||
Boddaert N,
|
||
Elie C,
|
||
Pinard JM,
|
||
Plouin P,
|
||
Moutard ML,
|
||
des Portes V,
|
||
Van Esch H,
|
||
Joriot S,
|
||
Renard JL,
|
||
Chelly J,
|
||
Francis F,
|
||
Beldjord C,
|
||
Bahi-Buisson N</span><br />
|
||
<span class="medgenPMjournal">Neurogenetics</span>
|
||
2008 Oct;9(4):277-85.
|
||
Epub 2008 Aug 7
|
||
doi: 10.1007/s10048-008-0141-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18685874" target="_blank">18685874</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Lissencephaly%20type%201%20due%20to%20doublecortin%20gene%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 (3)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/22833188">Mosaic DCX deletion causes subcortical band heterotopia in males.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Quélin C,
|
||
Saillour Y,
|
||
Souville I,
|
||
Poirier K,
|
||
N'guyen-Morel MA,
|
||
Vercueil L,
|
||
Millisher-Bellaiche AE,
|
||
Boddaert N,
|
||
Dubois F,
|
||
Chelly J,
|
||
Beldjord C,
|
||
Bahi-Buisson N</span><br />
|
||
<span class="medgenPMjournal">Neurogenetics</span>
|
||
2012 Nov;13(4):367-73.
|
||
Epub 2012 Jul 26
|
||
doi: 10.1007/s10048-012-0339-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22833188" target="_blank">22833188</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21046408">Role of cytoskeletal abnormalities in the neuropathology and pathophysiology of type I lissencephaly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Friocourt G,
|
||
Marcorelles P,
|
||
Saugier-Veber P,
|
||
Quille ML,
|
||
Marret S,
|
||
Laquerrière A</span><br />
|
||
<span class="medgenPMjournal">Acta Neuropathol</span>
|
||
2011 Feb;121(2):149-70.
|
||
Epub 2010 Nov 3
|
||
doi: 10.1007/s00401-010-0768-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21046408" target="_blank">21046408</a><a href="/pmc/articles/PMC3037170" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19380077">Pigmentary mosaicism, subcortical band heterotopia, and brain cystic lesions.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ruggieri M,
|
||
Roggini M,
|
||
Spalice A,
|
||
Addis M,
|
||
Iannetti P</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2009 May;40(5):383-6.
|
||
doi: 10.1016/j.pediatrneurol.2008.11.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19380077" target="_blank">19380077</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19050731">Intragenic deletions and duplications of the LIS1 and DCX genes: a major disease-causing mechanism in lissencephaly and subcortical band heterotopia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Haverfield EV,
|
||
Whited AJ,
|
||
Petras KS,
|
||
Dobyns WB,
|
||
Das S</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2009 Jul;17(7):911-8.
|
||
Epub 2008 Dec 3
|
||
doi: 10.1038/ejhg.2008.213.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19050731" target="_blank">19050731</a><a href="/pmc/articles/PMC2986498" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18458920">Aristaless-related homeobox gene disruption leads to abnormal distribution of GABAergic interneurons in human neocortex: evidence based on a case of X-linked lissencephaly with abnormal genitalia (XLAG).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Okazaki S,
|
||
Ohsawa M,
|
||
Kuki I,
|
||
Kawawaki H,
|
||
Koriyama T,
|
||
Ri S,
|
||
Ichiba H,
|
||
Hai E,
|
||
Inoue T,
|
||
Nakamura H,
|
||
Goto Y,
|
||
Tomiwa K,
|
||
Yamano T,
|
||
Kitamura K,
|
||
Itoh M</span><br />
|
||
<span class="medgenPMjournal">Acta Neuropathol</span>
|
||
2008 Oct;116(4):453-62.
|
||
Epub 2008 May 6
|
||
doi: 10.1007/s00401-008-0382-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18458920" target="_blank">18458920</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Lissencephaly%20type%201%20due%20to%20doublecortin%20gene%20mutation%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 (5)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<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.
|
||
<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/22408144">Lissencephaly and band heterotopia: LIS1, TUBA1A, and DCX mutations in Hungary.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mokánszki A,
|
||
Körhegyi I,
|
||
Szabó N,
|
||
Bereg E,
|
||
Gergev G,
|
||
Balogh E,
|
||
Bessenyei B,
|
||
Sümegi A,
|
||
Morris-Rosendahl DJ,
|
||
Sztriha L,
|
||
Oláh E</span><br />
|
||
<span class="medgenPMjournal">J Child Neurol</span>
|
||
2012 Dec;27(12):1534-40.
|
||
Epub 2012 Mar 8
|
||
doi: 10.1177/0883073811436326.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22408144" target="_blank">22408144</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18685874">The location of DCX mutations predicts malformation severity in X-linked lissencephaly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Leger PL,
|
||
Souville I,
|
||
Boddaert N,
|
||
Elie C,
|
||
Pinard JM,
|
||
Plouin P,
|
||
Moutard ML,
|
||
des Portes V,
|
||
Van Esch H,
|
||
Joriot S,
|
||
Renard JL,
|
||
Chelly J,
|
||
Francis F,
|
||
Beldjord C,
|
||
Bahi-Buisson N</span><br />
|
||
<span class="medgenPMjournal">Neurogenetics</span>
|
||
2008 Oct;9(4):277-85.
|
||
Epub 2008 Aug 7
|
||
doi: 10.1007/s10048-008-0141-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18685874" target="_blank">18685874</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Lissencephaly%20type%201%20due%20to%20doublecortin%20gene%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 (3)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<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.
|
||
<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/22408144">Lissencephaly and band heterotopia: LIS1, TUBA1A, and DCX mutations in Hungary.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mokánszki A,
|
||
Körhegyi I,
|
||
Szabó N,
|
||
Bereg E,
|
||
Gergev G,
|
||
Balogh E,
|
||
Bessenyei B,
|
||
Sümegi A,
|
||
Morris-Rosendahl DJ,
|
||
Sztriha L,
|
||
Oláh E</span><br />
|
||
<span class="medgenPMjournal">J Child Neurol</span>
|
||
2012 Dec;27(12):1534-40.
|
||
Epub 2012 Mar 8
|
||
doi: 10.1177/0883073811436326.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22408144" target="_blank">22408144</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19380077">Pigmentary mosaicism, subcortical band heterotopia, and brain cystic lesions.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ruggieri M,
|
||
Roggini M,
|
||
Spalice A,
|
||
Addis M,
|
||
Iannetti P</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2009 May;40(5):383-6.
|
||
doi: 10.1016/j.pediatrneurol.2008.11.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19380077" target="_blank">19380077</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18685874">The location of DCX mutations predicts malformation severity in X-linked lissencephaly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Leger PL,
|
||
Souville I,
|
||
Boddaert N,
|
||
Elie C,
|
||
Pinard JM,
|
||
Plouin P,
|
||
Moutard ML,
|
||
des Portes V,
|
||
Van Esch H,
|
||
Joriot S,
|
||
Renard JL,
|
||
Chelly J,
|
||
Francis F,
|
||
Beldjord C,
|
||
Bahi-Buisson N</span><br />
|
||
<span class="medgenPMjournal">Neurogenetics</span>
|
||
2008 Oct;9(4):277-85.
|
||
Epub 2008 Aug 7
|
||
doi: 10.1007/s10048-008-0141-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18685874" target="_blank">18685874</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Lissencephaly%20type%201%20due%20to%20doublecortin%20gene%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 (4)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
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<div id="messagearea_bottom">
|
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|
||
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|
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<div class=" bottom">
|
||
|
||
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|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
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<div class="rightCol mgCol">
|
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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_content ln"><ul id="my-toc"></ul></div>
|
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|
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|
||
<div class="portlet mgSection" id="ID_106">
|
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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>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C4551968%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (48)</a></li>
|
||
<li><a href="/gtr/tests?term=C4551968%5bDISCUI%5d&filter=method%3A2%5F29" target="_blank">Detection of homozygosity (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C4551968%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (3)</a></li>
|
||
<li><a href="/gtr/tests?term=C4551968%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (56)</a></li>
|
||
<li><a href="/gtr/tests?term=C4551968%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (10)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C4551968%5bDISCUI%5d" target="_blank">See all (72)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=300067" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=2148" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Lissencephaly%20type%201%20due%20to%20doublecortin%20gene%20mutation" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_115">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=300121" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=1641[geneid]" target="_blank">View DCX variations in ClinVar</a></li><li><a href="/nuccore/226053394" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=300067" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
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|
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|
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<div class="portlet mgSection" id="ID_116">
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|
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<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/lissencephaly_x_linked_1" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Lissencephaly%20type%201%20due%20to%20doublecortin%20gene%20mutation" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/isolated-lissencephaly-sequence" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/6914/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
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|
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|
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<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C4551968[DISCUI]" ref="log$=recordlinks">GTR</a>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=1644310" ref="log$=recordlinks">PubMed (GeneReviews)</a>
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<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
|
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|
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<li class="brieflinkpopper">
|
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=1644310" ref="log$=recordlinks">PubMed (OMIM)</a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d4ed7667c23b31e0ebfb02">Lissencephaly type 1 due to doublecortin gene mutation</a>
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