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<meta name="keywords" content="C1837249, abnormal neuronal migration, abnormality of neuronal migration, congenital abnormality, cortical malformations, group ii, disorder, neuronal migration, disorders, neuronal migration, heterotopias/abnormal migration, malformations due to abnormal neuronal migration, malformations of cortical development, group ii, malformations secondary to abnormal neuronal migration, migration disorder, neuronal, migration disorders, neuronal, migrational brain disorder, neuronal migration abnormalities, neuronal migration disorder, neuronal migration disorders, 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="An abnormality resulting from an anomaly of neuronal migration, i.e., of the process by which neurons travel from their origin to their final position in the brain." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Abnormality of neuronal migration (Concept Id: C1837249)
- MedGen - NCBI</title>
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<!--
UID=324748
ConceptID=C1837249
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Abnormality of neuronal migration</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>324748</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)&#10;Click for more information.">C1837249</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
<td>Cortical Malformations, Group II; Disorder, Neuronal Migration; Disorders, Neuronal Migration; Malformations Due to Abnormal Neuronal Migration; Malformations of Cortical Development, Group II; Malformations Secondary to Abnormal Neuronal Migration; Migration Disorder, Neuronal; Migration Disorders, Neuronal; Neuronal Migration Disorder; Neuronal Migration Disorders</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0002269">HP:0002269</a></td></tr>
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<div class="portlet mgSection" id="ID_100">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln">An abnormality resulting from an anomaly of neuronal migration, i.e., of the process by which neurons travel from their origin to their final position in the brain. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</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="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1837249[DISCUI]&amp;test_type=Clinical&amp;redirect=true" ref="ncbi_uid=324748">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&amp;from_uid=324748" ref="ncbi_uid=324748">V</a></span></span><span class="TLline">Abnormality of neuronal migration</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/871309" ref="tree=MeSH" title="MedGen record for Abnormality of prenatal development or birth">Abnormality of prenatal development or birth</a></span><ul><li><span class="TLline"><a href="/medgen/1254" ref="tree=MeSH" title="MedGen record for Fetal anomaly">Fetal anomaly</a></span><ul><li><span class="TLline"><a href="/medgen/474891" ref="tree=MeSH" title="MedGen record for Congenital Systemic Disorder">Congenital Systemic Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/105425" ref="tree=MeSH" title="MedGen record for Abnormality of the nervous system">Abnormality of the nervous system</a></span><ul><li><span class="matched_ds">Abnormality of neuronal migration</span><ul><li><span class="TLline"><a href="/medgen/408200" ref="tree=MeSH" title="MedGen record for Classical Lissencephalies and Subcortical Band Heterotopias">Classical Lissencephalies and Subcortical Band Heterotopias</a></span></li><li><span class="TLline"><a href="/medgen/96562" ref="tree=MeSH" title="MedGen record for Cobblestone lissencephaly">Cobblestone lissencephaly</a></span><ul><li><span class="TLline"><a href="/medgen/767571" ref="tree=MeSH" title="MedGen record for Cobblestone lissencephaly without muscular or ocular involvement">Cobblestone lissencephaly without muscular or ocular involvement</a></span></li><li><span class="TLline"><a href="/medgen/75553" ref="tree=MeSH" title="MedGen record for Walker-Warburg congenital muscular dystrophy">Walker-Warburg congenital muscular dystrophy</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/452349" ref="tree=MeSH" title="MedGen record for Gray matter heterotopia">Gray matter heterotopia</a></span><ul><li><span class="TLline"><a href="/medgen/1766888" ref="tree=MeSH" title="MedGen record for Periventricular heterotopia">Periventricular heterotopia</a></span><ul><li><span class="TLline"><a href="/medgen/394736" ref="tree=MeSH" title="MedGen record for Periventricular laminar heterotopia">Periventricular laminar heterotopia</a></span></li><li><span class="TLline"><a href="/medgen/358387" ref="tree=MeSH" title="MedGen record for Periventricular nodular heterotopia">Periventricular nodular heterotopia</a></span></li><li><span class="TLline"><a href="/medgen/1698492" ref="tree=MeSH" title="MedGen record for Periventricular ribbonlike heterotopia">Periventricular ribbonlike heterotopia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/766245" ref="tree=MeSH" title="MedGen record for Subcortical heterotopia">Subcortical heterotopia</a></span><ul><li><span class="TLline"><a href="/medgen/1692121" ref="tree=MeSH" title="MedGen record for Curvilinear subcortical heterotopia">Curvilinear subcortical heterotopia</a></span></li><li><span class="TLline"><a href="/medgen/1688576" ref="tree=MeSH" title="MedGen record for Diffuse ribbon-like subcortical heterotopia">Diffuse ribbon-like subcortical heterotopia</a></span></li><li><span class="TLline"><a href="/medgen/1703446" ref="tree=MeSH" title="MedGen record for Mesial parasagittal subcortical heterotopia">Mesial parasagittal subcortical heterotopia</a></span></li><li><span class="TLline"><a href="/medgen/1688126" ref="tree=MeSH" title="MedGen record for Nodular subcortical heterotopia in peritrigonal regions">Nodular subcortical heterotopia in peritrigonal regions</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></li><li><span class="TLline"><a href="/medgen/1689132" ref="tree=MeSH" title="MedGen record for Transmantle columnar heterotopia">Transmantle columnar heterotopia</a></span></li></ul></li></ul></li><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/1693266" ref="tree=MeSH" title="MedGen record for 2-3-layered lissencephaly">2-3-layered lissencephaly</a></span></li><li><span class="TLline"><a href="/medgen/1696793" ref="tree=MeSH" title="MedGen record for 6-layered lissencephaly">6-layered lissencephaly</a></span></li><li><span class="TLline"><a href="/medgen/361827" ref="tree=MeSH" title="MedGen record for Agyria">Agyria</a></span></li><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="TLline"><a href="/medgen/895946" ref="tree=MeSH" title="MedGen record for Isolated lissencephaly type 1 without known genetic defect">Isolated lissencephaly type 1 without known genetic defect</a></span></li><li><span class="TLline"><a href="/medgen/1681109" ref="tree=MeSH" title="MedGen record for Lissencephaly 9 with complex brainstem malformation">Lissencephaly 9 with complex brainstem malformation</a></span></li><li><span class="TLline"><a href="/medgen/1657090" ref="tree=MeSH" title="MedGen record for Lissencephaly due to LIS1 mutation">Lissencephaly due to LIS1 mutation</a></span></li><li><span class="TLline"><a href="/medgen/1644310" ref="tree=MeSH" title="MedGen record for Lissencephaly type 1 due to doublecortin gene mutation">Lissencephaly type 1 due to doublecortin gene mutation</a></span></li><li><span class="TLline"><a href="/medgen/78538" ref="tree=MeSH" title="MedGen record for Miller Dieker syndrome">Miller Dieker syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/344450" ref="tree=MeSH" title="MedGen record for Focal lissencephaly">Focal lissencephaly</a></span></li><li><span class="TLline"><a href="/medgen/930822" ref="tree=MeSH" title="MedGen record for Lissencephaly due to TUBA1A mutation">Lissencephaly due to TUBA1A mutation</a></span></li><li><span class="TLline"><a href="/medgen/369910" ref="tree=MeSH" title="MedGen record for Lissencephaly type 3">Lissencephaly type 3</a></span><ul><li><span class="TLline"><a href="/medgen/930924" ref="tree=MeSH" title="MedGen record for Lissencephaly type 3-familial fetal akinesia sequence syndrome">Lissencephaly type 3-familial fetal akinesia sequence syndrome</a></span></li><li><span class="TLline"><a href="/medgen/371379" ref="tree=MeSH" title="MedGen record for Lissencephaly type 3-metacarpal bone dysplasia syndrome">Lissencephaly type 3-metacarpal bone dysplasia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/78537" ref="tree=MeSH" title="MedGen record for Neu-Laxova syndrome">Neu-Laxova syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/120579" ref="tree=MeSH" title="MedGen record for Macrogyria">Macrogyria</a></span><ul><li><span class="TLline"><a href="/medgen/1690786" ref="tree=MeSH" title="MedGen record for Pachygyria with 5-10 mm cortical thickness">Pachygyria with 5-10 mm cortical thickness</a></span></li><li><span class="TLline"><a href="/medgen/1689044" ref="tree=MeSH" title="MedGen record for Thick pachygyria">Thick pachygyria</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/365439" ref="tree=MeSH" title="MedGen record for Microlissencephaly">Microlissencephaly</a></span><ul><li><span class="TLline"><a href="/medgen/163213" ref="tree=MeSH" title="MedGen record for Norman-Roberts syndrome">Norman-Roberts syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1703812" ref="tree=MeSH" title="MedGen record for Unlayered lissencephaly">Unlayered lissencephaly</a></span></li><li><span class="TLline"><a href="/medgen/375832" ref="tree=MeSH" title="MedGen record for X-linked lissencephaly with abnormal genitalia">X-linked lissencephaly with abnormal genitalia</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
</div>
<div class="portlet mgSection" id="ID_112">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln clinfeat">
<div class="divPopper rprt" id="rdis_90996"><div><strong>3-Hydroxyisobutyric aciduria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>90996</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)&#10;Click for more information.">C0342737</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A rare classic organic aciduria characterized by tissue accumulation and elevation of urinary excretion of 3-hydroxyisobutyric acid. The clinical phenotype ranges from recurrent mild episodes of vomiting with normal cognitive development, to massive acidosis, seizures, and failure to thrive with profound intellectual disability and early death. Dysmorphic craniofacial features (such as microcephaly, triangular face, short, sloping forehead, long, prominent philtrum, and micrognathia) and variable cerebral anomalies have also been described.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/90996">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_901885"><div><strong>X-linked intellectual disability-short stature-overweight syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>901885</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)&#10;Click for more information.">C0796218</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Kumar-type X-linked syndromic intellectual developmental disorder (MRXSK) is an X-linked recessive disorder that shows phenotypic variability and multisystem involvement apparent from birth or early infancy. Most affected individuals are male, although 1 severely affected girl with a de novo THOC2 mutation has been reported. At the severe end of the spectrum, affected individuals have hypotonia, neonatal difficulties, failure to thrive with poor overall growth, feeding difficulties, respiratory insufficiency, visual impairment, profoundly impaired intellectual development with poor or absent speech, and motor abnormalities, such as inability to walk and hyperkinetic movements. Less severely affected individuals have mildly to moderately impaired intellectual development and speech delay. Additional features include behavioral abnormalities, hearing or visual defects, seizures, dysmorphic facial features, and brain imaging abnormalities (Kumar et al., 2015; Kumar et al., 2018; Kumar et al., 2020).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/901885">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_318896"><div><strong>Carnitine palmitoyl transferase II deficiency, neonatal form</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>318896</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)&#10;Click for more information.">C1833518</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Carnitine palmitoyltransferase II (CPT II) deficiency is a disorder of long-chain fatty-acid oxidation. The three clinical presentations are lethal neonatal form, severe infantile hepatocardiomuscular form, and myopathic form (which is usually mild and can manifest from infancy to adulthood). While the former two are severe multisystemic diseases characterized by liver failure with hypoketotic hypoglycemia, cardiomyopathy, seizures, and early death, the latter is characterized by exercise-induced muscle pain and weakness, sometimes associated with myoglobinuria. The myopathic form of CPT II deficiency is the most common disorder of lipid metabolism affecting skeletal muscle and the most frequent cause of hereditary myoglobinuria. Males are more likely to be affected than females.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/318896">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_373284"><div><strong>Muscular dystrophy-dystroglycanopathy type B6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>373284</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)&#10;Click for more information.">C1837229</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">MDDGB6 is an autosomal recessive congenital muscular dystrophy with impaired intellectual development and structural brain abnormalities (Longman et al., 2003). It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as 'dystroglycanopathies' (Mercuri et al., 2009).&#13; For a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 (613155).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/373284">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_376309"><div><strong>Heterotopia, periventricular, X-linked dominant</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376309</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)&#10;Click for more information.">C1848213</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">FLNA deficiency is associated with a phenotypic spectrum that includes FLNA-related periventricular nodular heterotopia (Huttenlocher syndrome), congenital heart disease (patent ductus arteriosus, atrial and ventricular septal defects), valvular dystrophy, dilatation and rupture of the thoracic aorta, pulmonary disease (pulmonary hypertension, alveolar hypoplasia, emphysema, asthma, chronic bronchitis), gastrointestinal dysmotility and obstruction, joint hypermobility, and macrothrombocytopenia.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/376309">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_346929"><div><strong>Microcephaly 2, primary, autosomal recessive, with or without cortical malformations</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>346929</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)&#10;Click for more information.">C1858535</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">In WDR62 primary microcephaly (WDR62-MCPH), microcephaly (occipitofrontal circumference [OFC] =2 standard deviations below the mean) is usually present at birth, but in some instances becomes evident later in the first year of life. Growth is otherwise normal. Except for brain malformations in most affected individuals, no other congenital malformations are observed. Central nervous system involvement can include delayed motor development, mild-to-severe intellectual disability (ID), behavior problems, epilepsy, spasticity, and ataxia.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/346929">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1634188"><div><strong>Galloway-Mowat syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1634188</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)&#10;Click for more information.">C4551772</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1634188">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1684757"><div><strong>Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1684757</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)&#10;Click for more information.">C5231470</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Neurodevelopmental disorder with nonspecific brain abnormalities is a highly variable syndrome characterized by impaired intellectual development and behavioral abnormalities associated with structural changes on brain imaging. Some patients have seizures, hypotonia, and scoliosis/kyphosis. Cognitive function ranges from severely impaired to the ability to attend schools with special assistance (summary by Fischer-Zirnsak et al., 2019).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1684757">Condition Record</a></div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_90996" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">3-Hydroxyisobutyric aciduria</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_318896" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Carnitine palmitoyl transferase II deficiency, neonatal form</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1634188" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Galloway-Mowat syndrome 1</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_376309" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Heterotopia, periventricular, X-linked dominant</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_346929" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microcephaly 2, primary, autosomal recessive, with or without cortical malformations</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_373284" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscular dystrophy-dystroglycanopathy type B6</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1684757" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_901885" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked intellectual disability-short stature-overweight syndrome</a></div></div>
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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>
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<div class="nl"><a target="_blank" href="/pubmed/37574439">X-linked neuronal migration disorders: Gender differences and insights for genetic screening.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Edey J,
Soleimani-Nouri P,
Dawson-Kavanagh A,
Imran Azeem MS,
Episkopou V</span><br />
<span class="medgenPMjournal">Int J Dev Neurosci</span>
2023 Nov;83(7):581-599.
Epub 2023 Aug 13
doi: 10.1002/jdn.10290.
<span class="bold">PMID: </span><a href="/pubmed/37574439" target="_blank">37574439</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34731701">Lissencephaly: Update on diagnostics and clinical management.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Koenig M,
Dobyns WB,
Di Donato N</span><br />
<span class="medgenPMjournal">Eur J Paediatr Neurol</span>
2021 Nov;35:147-152.
Epub 2021 Oct 7
doi: 10.1016/j.ejpn.2021.09.013.
<span class="bold">PMID: </span><a href="/pubmed/34731701" target="_blank">34731701</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33497949">A newborn case of adenylosuccinate lyase deficiency with a novel heterozygous mutation diagnosed by whole exome sequencing.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Cakmak Celik F,
Ozlu MM,
Ceylaner S</span><br />
<span class="medgenPMjournal">Clin Neurol Neurosurg</span>
2021 Mar;202:106506.
Epub 2021 Jan 19
doi: 10.1016/j.clineuro.2021.106506.
<span class="bold">PMID: </span><a href="/pubmed/33497949" target="_blank">33497949</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(abnormality%20of%20neuronal%20migration)%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 (26)</a></div></div>
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<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
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<div class="nl"><a target="_blank" href="/pubmed/36553645">Dual Molecular Diagnoses of Recessive Disorders in a Child from Consanguineous Parents: Case Report and Literature Review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Correia-Costa GR,
Dos Santos AM,
de Leeuw N,
Rigatto SZP,
Belangero VMS,
Steiner CE,
Gil-da-Silva-Lopes VL,
Vieira TP</span><br />
<span class="medgenPMjournal">Genes (Basel)</span>
2022 Dec 16;13(12)
doi: 10.3390/genes13122377.
<span class="bold">PMID: </span><a href="/pubmed/36553645" target="_blank">36553645</a><a href="/pmc/articles/PMC9778442" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/9256546">Grey matter heterotopia: an unusual association of intractable epilepsy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Stafford Johnson DB,
Brennan P,
Dwyer AJ,
Toland J</span><br />
<span class="medgenPMjournal">Ir J Med Sci</span>
1997 Jul-Sep;166(3):135-8.
doi: 10.1007/BF02943590.
<span class="bold">PMID: </span><a href="/pubmed/9256546" target="_blank">9256546</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20neuronal%20migration%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 (2)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1837249%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (1)</a></li>
<li><a href="/gtr/tests?term=C1837249%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (1)</a></li>
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