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<meta name="keywords" content="C1879312, agyria, agyria diffuse, agyrias, congenital abnormality, 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="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." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=361827
|
||
ConceptID=C1879312
|
||
-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Agyria</div></h1><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><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Agyrias</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Agyria (204036008)</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:0031882">HP:0031882</a></td></tr>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">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. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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<div 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>
|
||
<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="matched_ds"><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">Agyria</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="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4551968[DISCUI]&test_type=Clinical" ref="ncbi_uid=1644310">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1644310" target="_blank" href="/omim/300067">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1185/" ref="ncbi_uid=1644310">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1644310" ref="ncbi_uid=1644310">V</a></span></span><span class="TLline"><a href="/medgen/1644310" ref="tree=GTR&ncbi_uid=1644310&link_uid=1644310" title="View MedGen record for 'Lissencephaly type 1 due to doublecortin gene mutation'">Lissencephaly type 1 due to doublecortin gene mutation</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0796089[DISCUI]&test_type=Clinical" ref="ncbi_uid=163213">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=163213" target="_blank" href="/omim/257320">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=163213" ref="ncbi_uid=163213">V</a></span></span><span class="TLline"><a href="/medgen/163213" ref="tree=GTR&ncbi_uid=163213&link_uid=163213" title="View MedGen record for 'Norman-Roberts syndrome'">Norman-Roberts syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1846171[DISCUI]&test_type=Clinical" ref="ncbi_uid=375832">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=375832" target="_blank" href="/omim/300215">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=375832" ref="ncbi_uid=375832">V</a></span></span><span class="TLline"><a href="/medgen/375832" ref="tree=GTR&ncbi_uid=375832&link_uid=375832" title="View MedGen record for 'X-linked lissencephaly with abnormal genitalia'">X-linked lissencephaly with abnormal genitalia</a></span></li></ul></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/866738" ref="tree=MeSH" title="MedGen record for Abnormal brain morphology">Abnormal brain morphology</a></span><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="matched_ds">Agyria</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="divPopper rprt" id="rdis_78538"><div><strong>Miller Dieker syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78538</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.">C0265219</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">PAFAH1B1-related lissencephaly / subcortical band heterotopia (SBH) comprises a spectrum of severity. Affected newborns typically have mild-to-moderate hypotonia, feeding difficulties, and poor head control. During the first years, neurologic examination typically demonstrates poor visual tracking and response to sounds, axial hypotonia, and mild distal spasticity that can transition over time to more severe spasticity. Seizures occur in more than 90% of individuals with lissencephaly and often include infantile spasms. Seizures are often drug resistant, but even with good seizure control, the best developmental level achieved (excluding the few individuals with partial lissencephaly) is the equivalent of about age three to five months. In individuals with PAFAH1B1-related lissencephaly/SBH, developmental delay ranges from mild to severe. Other findings in PAFAH1B1-related lissencephaly/SBH include feeding issues and aspiration (which may result in need for gastrostomy tube placement), progressive microcephaly, and occasional developmental regression.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/78538">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_140820"><div><strong>Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140820</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.">C0410174</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Fukuyama congenital muscular dystrophy (FCMD) is characterized by hypotonia, symmetric generalized muscle weakness, and CNS migration disturbances that result in changes consistent with cobblestone lissencephaly with cerebral and cerebellar cortical dysplasia. Mild, typical, and severe phenotypes are recognized. Onset typically occurs in early infancy with poor suck, weak cry, and floppiness. Affected individuals have contractures of the hips, knees, and interphalangeal joints. Later features include myopathic facial appearance, pseudohypertrophy of the calves and forearms, motor and speech delays, intellectual disability, seizures, ophthalmologic abnormalities including visual impairment and retinal dysplasia, and progressive cardiac involvement after age ten years. Swallowing disturbance occurs in individuals with severe FCMD and in individuals older than age ten years, leading to recurrent aspiration pneumonia and death.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/140820">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_461763"><div><strong>Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>461763</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.">C3150413</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of DAG1 (128239), collectively known as 'dystroglycanopathies' (Beltran-Valero de Bernabe et al., 2004). For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (236670).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/461763">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_766244"><div><strong>Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>766244</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.">C3553330</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as 'dystroglycanopathies' (summary by Roscioli et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (236670).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/766244">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_815294"><div><strong>Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>815294</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.">C3808964</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with congenital muscular dystrophy resulting in muscle weakness early in life and brain and eye anomalies. It is usually associated with delayed psychomotor development and shortened life expectancy. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB). The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as dystroglycanopathies (summary by Stevens et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (236670).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/815294">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_815744"><div><strong>Complex cortical dysplasia with other brain malformations 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>815744</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.">C3809414</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the KIF2A gene.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/815744">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_815750"><div><strong>Complex cortical dysplasia with other brain malformations 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>815750</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.">C3809420</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBG1 gene.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/815750">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_902513"><div><strong>Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>902513</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4225291</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, and congenital muscular dystrophy. The phenotype includes the alternative clinical designation Walker-Warburg syndrome (WWS), which is associated with death in infancy. The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1), collectively known as 'dystroglycanopathies' (summary by Geis et al., 2013 and Riemersma et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (236670).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/902513">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_895680"><div><strong>Lissencephaly 7 with cerebellar hypoplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>895680</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.">C4225359</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Lissencephaly-7 with cerebellar hypoplasia (LIS7) is a severe neurodevelopmental disorder characterized by lack of psychomotor development, facial dysmorphism, arthrogryposis, and early-onset intractable seizures resulting in death in infancy (Magen et al., 2015). For a general description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (607432).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/895680">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_924974"><div><strong>Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>924974</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.">C4284790</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is a genetically heterogeneous autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and early death. The phenotype commonly includes cobblestone (type II) lissencephaly, cerebellar malformations, and retinal malformations. More variable features include macrocephaly or microcephaly, hypoplasia of midline brain structures, ventricular dilatation, microphthalmia, cleft lip/palate, and congenital contractures (Dobyns et al., 1989). Those with a more severe phenotype characterized as Walker-Warburg syndrome often die within the first year of life, whereas those characterized as having muscle-eye-brain disease may rarely acquire the ability to walk and to speak a few words. These are part of a group of disorders resulting from defective glycosylation of DAG1 (128239), collectively known as 'dystroglycanopathies' (Godfrey et al., 2007). Genetic Heterogeneity of Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies (Type A) Muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is genetically heterogeneous and can be caused by mutation in other genes involved in DAG1 glycosylation: see MDDGA2 (613150), caused by mutation in the POMT2 gene (607439); MDDGA3 (253280), caused by mutation in the POMGNT1 gene (606822); MDDGA4 (253800), caused by mutation in the FKTN gene (607440); MDDGA5 (613153), caused by mutation in the FKRP gene (606596); MDDGA6 (613154), caused by mutation in the LARGE gene (603590); MDDGA7 (614643), caused by mutation in the ISPD gene (CRPPA; 614631); MDDGA8 (614830) caused by mutation in the GTDC2 gene (POMGNT2; 614828); MDDGA9 (616538), caused by mutation in the DAG1 gene (128239); MDDGA10 (615041), caused by mutation in the TMEM5 gene (RXYLT1; 605862); MDDGA11 (615181), caused by mutation in the B3GALNT2 gene (610194); MDDGA12 (615249), caused by mutation in the SGK196 gene (POMK; 615247); MDDGA13 (615287), caused by mutation in the B3GNT1 gene (B4GAT1; 605517); and MDDGA14 (615350), caused by mutation in the GMPPB gene (615320).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/924974">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_930822"><div><strong>Lissencephaly due to TUBA1A mutation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>930822</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.">C4305153</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 cortical development anomaly due to abnormal neuronal migration involving neocortical and hippocampal lamination, corpus callosum, cerebellum and brainstem. A large clinical spectrum can be observed, from children with severe epilepsy and intellectual and motor deficit to cases with severe cerebral dysgenesis in the antenatal period leading to pregnancy termination due to the severity of the prognosis.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/930822">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_934613"><div><strong>Lissencephaly 8</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934613</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4310646</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Lissencephaly-8 (LIS8) is an autosomal recessive neurologic disorder characterized by delayed psychomotor development, intellectual disability with poor or absent speech, early-onset refractory seizures, and hypotonia. Brain imaging shows variable features, including cortical gyral abnormalities and hypoplasia of the corpus callosum, brainstem, and cerebellum (Jerber et al., 2016). For a general description and a discussion of genetic heterogeneity lissencephaly, see LIS1 (607432).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/934613">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1644310"><div><strong>Lissencephaly type 1 due to doublecortin gene mutation</strong><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></div>
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<div class="spaceAbove">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.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1644310">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1657090"><div><strong>Lissencephaly due to LIS1 mutation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1657090</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4749301</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
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<div class="spaceAbove">PAFAH1B1-related lissencephaly / subcortical band heterotopia (SBH) comprises a spectrum of severity. Affected newborns typically have mild-to-moderate hypotonia, feeding difficulties, and poor head control. During the first years, neurologic examination typically demonstrates poor visual tracking and response to sounds, axial hypotonia, and mild distal spasticity that can transition over time to more severe spasticity. Seizures occur in more than 90% of individuals with lissencephaly and often include infantile spasms. Seizures are often drug resistant, but even with good seizure control, the best developmental level achieved (excluding the few individuals with partial lissencephaly) is the equivalent of about age three to five months. In individuals with PAFAH1B1-related lissencephaly/SBH, developmental delay ranges from mild to severe. Other findings in PAFAH1B1-related lissencephaly/SBH include feeding issues and aspiration (which may result in need for gastrostomy tube placement), progressive microcephaly, and occasional developmental regression.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1657090">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1719546"><div><strong>Lissencephaly 10</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1719546</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.">C5394354</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Lissencephaly-10 (LIS10) is a neurologic disorder characterized by variably delayed development with mildly to moderately impaired intellectual development and language delay, as well as seizures, which are often intractable. There is a spectrum of severity, with some patients having normal early development and only borderline to mild cognitive impairment. Brain imaging shows features consistent with neuronal migration defects, including posterior-predominant lissencephaly, pachygyria, agyria, and subcortical band heterotopia (summary by Tsai et al., 2020). For a general description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (607432).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1719546">Condition Record</a></div></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_815744" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Complex cortical dysplasia with other brain malformations 3</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_815750" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Complex cortical dysplasia with other brain malformations 4</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1719546" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lissencephaly 10</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_895680" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lissencephaly 7 with cerebellar hypoplasia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934613" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lissencephaly 8</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (15)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1657090" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lissencephaly due to LIS1 mutation</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_930822" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lissencephaly due to TUBA1A mutation</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1644310" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lissencephaly type 1 due to doublecortin gene mutation</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_78538" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Miller Dieker syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_815294" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_140820" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_766244" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_924974" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_461763" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_902513" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9</a></div></span></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/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/12185771">Epileptogenic brain malformations: clinical presentation, malformative patterns and indications for genetic testing.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guerrini R,
|
||
Carrozzo R</span><br />
|
||
<span class="medgenPMjournal">Seizure</span>
|
||
2002 Apr;11 Suppl A:532-43; quiz 544-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12185771" target="_blank">12185771</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11749114">Epileptogenic brain malformations: clinical presentation, malformative patterns and indications for genetic testing.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guerrini R,
|
||
Carrozzo R</span><br />
|
||
<span class="medgenPMjournal">Seizure</span>
|
||
2001 Oct;10(7):532-43; quiz 544-7.
|
||
doi: 10.1053/seiz.2001.0650.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11749114" target="_blank">11749114</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22agyria%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (4)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36283405">Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Khalaf-Nazzal R,
|
||
Fasham J,
|
||
Inskeep KA,
|
||
Blizzard LE,
|
||
Leslie JS,
|
||
Wakeling MN,
|
||
Ubeyratna N,
|
||
Mitani T,
|
||
Griffith JL,
|
||
Baker W,
|
||
Al-Hijawi F,
|
||
Keough KC,
|
||
Gezdirici A,
|
||
Pena L,
|
||
Spaeth CG,
|
||
Turnpenny PD,
|
||
Walsh JR,
|
||
Ray R,
|
||
Neilson A,
|
||
Kouranova E,
|
||
Cui X,
|
||
Curiel DT,
|
||
Pehlivan D,
|
||
Akdemir ZC,
|
||
Posey JE,
|
||
Lupski JR,
|
||
Dobyns WB,
|
||
Stottmann RW,
|
||
Crosby AH,
|
||
Baple EL</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2022 Nov 3;109(11):2068-2079.
|
||
Epub 2022 Oct 24
|
||
doi: 10.1016/j.ajhg.2022.09.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36283405" target="_blank">36283405</a><a href="/pmc/articles/PMC9674946" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25708062">Clinical Profile of Children with Malformations of Cortical Development.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gupta A,
|
||
Sahu JK,
|
||
Gupta A,
|
||
Malhi P,
|
||
Khandelwal N,
|
||
Singhi P</span><br />
|
||
<span class="medgenPMjournal">Indian J Pediatr</span>
|
||
2015 Jul;82(7):591-4.
|
||
Epub 2015 Feb 25
|
||
doi: 10.1007/s12098-015-1723-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25708062" target="_blank">25708062</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25296542">Hemispheric dysplasia and hemimegalencephaly: imaging definitions.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Santos AC,
|
||
Escorsi-Rosset S,
|
||
Simao GN,
|
||
Terra VC,
|
||
Velasco T,
|
||
Neder L,
|
||
Sakamoto AC,
|
||
Machado HR</span><br />
|
||
<span class="medgenPMjournal">Childs Nerv Syst</span>
|
||
2014 Nov;30(11):1813-21.
|
||
Epub 2014 Oct 9
|
||
doi: 10.1007/s00381-014-2476-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25296542" target="_blank">25296542</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1745330">Epidemiology of lissencephaly type I.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">de Rijk-van Andel JF,
|
||
Arts WF,
|
||
Hofman A,
|
||
Staal A,
|
||
Niermeijer MF</span><br />
|
||
<span class="medgenPMjournal">Neuroepidemiology</span>
|
||
1991;10(4):200-4.
|
||
doi: 10.1159/000110270.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1745330" target="_blank">1745330</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3391613">Agyria--pachygyria and Miller-Dieker syndrome: clinical, genetic and chromosome studies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dhellemmes C,
|
||
Girard S,
|
||
Dulac O,
|
||
Robain O,
|
||
Choiset A,
|
||
Tapia S</span><br />
|
||
<span class="medgenPMjournal">Hum Genet</span>
|
||
1988 Jun;79(2):163-7.
|
||
doi: 10.1007/BF00280557.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3391613" target="_blank">3391613</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Agyria%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 (36)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38353525">ILAE neuroimaging task force highlight: Subcortical laminar heterotopia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kasper BS,
|
||
Archer J,
|
||
Bernhardt BC,
|
||
Caciagli L,
|
||
Cendes F,
|
||
Chinvarun Y,
|
||
Concha L,
|
||
Federico P,
|
||
Gaillard W,
|
||
Kobayashi E,
|
||
Ogbole G,
|
||
Vaudano AE,
|
||
Wang I,
|
||
Wang S,
|
||
Winston GP,
|
||
Rampp S</span><br />
|
||
<span class="medgenPMjournal">Epileptic Disord</span>
|
||
2024 Apr;26(2):225-232.
|
||
Epub 2024 Feb 14
|
||
doi: 10.1002/epd2.20206.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38353525" target="_blank">38353525</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/25708062">Clinical Profile of Children with Malformations of Cortical Development.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gupta A,
|
||
Sahu JK,
|
||
Gupta A,
|
||
Malhi P,
|
||
Khandelwal N,
|
||
Singhi P</span><br />
|
||
<span class="medgenPMjournal">Indian J Pediatr</span>
|
||
2015 Jul;82(7):591-4.
|
||
Epub 2015 Feb 25
|
||
doi: 10.1007/s12098-015-1723-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25708062" target="_blank">25708062</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24862549">The genetics of lissencephaly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fry AE,
|
||
Cushion TD,
|
||
Pilz DT</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2014 Jun;166C(2):198-210.
|
||
Epub 2014 May 23
|
||
doi: 10.1002/ajmg.c.31402.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24862549" target="_blank">24862549</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2678293">Congenital central nervous system anomalies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Poe LB,
|
||
Coleman LL,
|
||
Mahmud F</span><br />
|
||
<span class="medgenPMjournal">Radiographics</span>
|
||
1989 Sep;9(5):801-26.
|
||
doi: 10.1148/radiographics.9.5.2678293.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2678293" target="_blank">2678293</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Agyria%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 (56)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33453472">Lissencephaly in an epilepsy cohort: Molecular, radiological and clinical aspects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kolbjer S,
|
||
Martin DA,
|
||
Pettersson M,
|
||
Dahlin M,
|
||
Anderlid BM</span><br />
|
||
<span class="medgenPMjournal">Eur J Paediatr Neurol</span>
|
||
2021 Jan;30:71-81.
|
||
Epub 2021 Jan 8
|
||
doi: 10.1016/j.ejpn.2020.12.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33453472" target="_blank">33453472</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10220862">Merosin-deficient congenital muscular dystrophy: the spectrum of brain involvement on magnetic resonance imaging.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Philpot J,
|
||
Cowan F,
|
||
Pennock J,
|
||
Sewry C,
|
||
Dubowitz V,
|
||
Bydder G,
|
||
Muntoni F</span><br />
|
||
<span class="medgenPMjournal">Neuromuscul Disord</span>
|
||
1999 Mar;9(2):81-5.
|
||
doi: 10.1016/s0960-8966(98)00110-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10220862" target="_blank">10220862</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8796359">Brain functional imaging SPECT in agyria-pachygyria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chiron C,
|
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Nabbout R,
|
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Pinton F,
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Nuttin C,
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Dulac O,
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<span class="medgenPMjournal">Epilepsy Res</span>
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|
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||
<div class="nl"><a target="_blank" href="/pubmed/7892955">Serial EEG and sleep polygraphic studies on lissencephaly (agyria-pachygyria).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mori K,
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Hashimoto T,
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Tayama M,
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Miyazaki M,
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Fukuda K,
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Endo S,
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<span class="bold">PMID: </span><a href="/pubmed/7892955" target="_blank">7892955</a></div>
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||
<div class="nl"><a target="_blank" href="/pubmed/2210085">Diagnostic features and clinical signs of 21 patients with lissencephaly type 1.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">de Rijk-van Andel JF,
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Arts WF,
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Barth PG,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Agyria%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (5)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/30744660">The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hebebrand M,
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Hüffmeier U,
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Trollmann R,
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Hehr U,
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Uebe S,
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Ekici AB,
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Kraus C,
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Krumbiegel M,
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Reis A,
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Thiel CT,
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Popp B</span><br />
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<span class="medgenPMjournal">Orphanet J Rare Dis</span>
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2019 Feb 11;14(1):38.
|
||
doi: 10.1186/s13023-019-1020-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30744660" target="_blank">30744660</a><a href="/pmc/articles/PMC6371496" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15637732">Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Currier SC,
|
||
Lee CK,
|
||
Chang BS,
|
||
Bodell AL,
|
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Pai GS,
|
||
Job L,
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Lagae LG,
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Al-Gazali LI,
|
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Eyaid WM,
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||
Enns G,
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Dobyns WB,
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Walsh CA</span><br />
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<span class="medgenPMjournal">Am J Med Genet A</span>
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2005 Feb 15;133A(1):53-7.
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doi: 10.1002/ajmg.a.30487.
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<span class="bold">PMID: </span><a href="/pubmed/15637732" target="_blank">15637732</a></div>
|
||
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||
<div class="nl"><a target="_blank" href="/pubmed/9588537">Microlissencephaly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sztriha L,
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Al-Gazali L,
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Várady E,
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Nork M,
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<span class="medgenPMjournal">Pediatr Neurol</span>
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1998 Apr;18(4):362-5.
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<span class="bold">PMID: </span><a href="/pubmed/9588537" target="_blank">9588537</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1745330">Epidemiology of lissencephaly type I.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">de Rijk-van Andel JF,
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||
Arts WF,
|
||
Hofman A,
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Staal A,
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<span class="bold">PMID: </span><a href="/pubmed/1745330" target="_blank">1745330</a></div>
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||
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||
<div class="nl"><a target="_blank" href="/pubmed/6677860">Warburg syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Levine RA,
|
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Gray DL,
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||
Gould N,
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Pergament E,
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<span class="medgenPMjournal">Ophthalmology</span>
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1983 Dec;90(12):1600-3.
|
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doi: 10.1016/s0161-6420(83)34345-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6677860" target="_blank">6677860</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Agyria%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 (33)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/30744660">The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hebebrand M,
|
||
Hüffmeier U,
|
||
Trollmann R,
|
||
Hehr U,
|
||
Uebe S,
|
||
Ekici AB,
|
||
Kraus C,
|
||
Krumbiegel M,
|
||
Reis A,
|
||
Thiel CT,
|
||
Popp B</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2019 Feb 11;14(1):38.
|
||
doi: 10.1186/s13023-019-1020-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30744660" target="_blank">30744660</a><a href="/pmc/articles/PMC6371496" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28440899">Lissencephaly: Expanded imaging and clinical classification.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Di Donato N,
|
||
Chiari S,
|
||
Mirzaa GM,
|
||
Aldinger K,
|
||
Parrini E,
|
||
Olds C,
|
||
Barkovich AJ,
|
||
Guerrini R,
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||
Dobyns WB</span><br />
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||
<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/15637732">Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Currier SC,
|
||
Lee CK,
|
||
Chang BS,
|
||
Bodell AL,
|
||
Pai GS,
|
||
Job L,
|
||
Lagae LG,
|
||
Al-Gazali LI,
|
||
Eyaid WM,
|
||
Enns G,
|
||
Dobyns WB,
|
||
Walsh CA</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2005 Feb 15;133A(1):53-7.
|
||
doi: 10.1002/ajmg.a.30487.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15637732" target="_blank">15637732</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8757001">X-linked malformations of neuronal migration.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dobyns WB,
|
||
Andermann E,
|
||
Andermann F,
|
||
Czapansky-Beilman D,
|
||
Dubeau F,
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||
Dulac O,
|
||
Guerrini R,
|
||
Hirsch B,
|
||
Ledbetter DH,
|
||
Lee NS,
|
||
Motte J,
|
||
Pinard JM,
|
||
Radtke RA,
|
||
Ross ME,
|
||
Tampieri D,
|
||
Walsh CA,
|
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Truwit CL</span><br />
|
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<span class="medgenPMjournal">Neurology</span>
|
||
1996 Aug;47(2):331-9.
|
||
doi: 10.1212/wnl.47.2.331.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8757001" target="_blank">8757001</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8306354">Neuropathology of lissencephalies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kuchelmeister K,
|
||
Bergmann M,
|
||
Gullotta F</span><br />
|
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<span class="medgenPMjournal">Childs Nerv Syst</span>
|
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1993 Nov;9(7):394-9.
|
||
doi: 10.1007/BF00306191.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8306354" target="_blank">8306354</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Agyria%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 (35)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
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|
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|
||
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|
||
|
||
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|
||
|
||
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|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
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|
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|
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<a href="/pubmed/clinical?term=Agyria" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
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<a class="text-white" href="https://www.hhs.gov/">HHS</a>
|
||
</li>
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||
<li>
|
||
<a class="text-white" href="https://www.usa.gov/">USA.gov</a>
|
||
</li>
|
||
</ul>
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||
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||
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