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<meta name="keywords" content="C0266484, cleft, schizencephalic, clefts, schizencephalic, congenital abnormality, cyst, schizencephalic, cysts, schizencephalic, emx2, familial schizencephaly, emx2-related, familial schizencephaly, six3-related, schizencephalic cleft, schizencephalic clefts, schizencephalic cyst, schizencephalic cysts, schizencephalic porencephaly, schizencephalies, schizencephaly, six3, 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="Brunelli et al. (1996) described schizencephaly as an extremely rare congenital disorder characterized by a full-thickness cleft within the cerebral hemispheres. The clefts are lined with gray matter and most commonly involve the parasylvian regions (Wolpert and Barnes, 1992). Large portions of the cerebral hemispheres may be absent and replaced by cerebrospinal fluid. Two types of schizencephaly have been described, depending on the size of the area involved and the separation of the cleft lips (Wolpert and Barnes, 1992). Type I schizencephaly consists of a fused cleft. This fused pial-ependymal seam forms a furrow in the developing brain, and is lined by polymicrogyric gray matter. In type II schizencephaly, there is a large defect, a holohemispheric cleft in the cerebral cortex filled with fluid and lined by polymicrogyric gray matter. The clinical manifestations depend on the severity of the lesion. Patients with type I are often almost normal; they may have seizures and spasticity. In type II abnormalities, there is usually mental retardation, seizures, hypotonia, spasticity, inability to walk or speak, and blindness. Schizencephaly may be part of the larger phenotypic spectrum of holoprosencephaly (HPE; see 236100)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=78606
|
||
ConceptID=C0266484
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Schizencephaly</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78606</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C0266484</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Familial Schizencephaly, EMX2-Related; Familial Schizencephaly, SIX3-Related</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Schizencephaly (253159001); Schizencephalic porencephaly (38353004)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</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.">C0441748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
|
||
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</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.">C0443147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Genes (locations):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="EMX2 - ID: 2018 - NCBI Gene" href="/gene/2018" class="medgenPMinfo">EMX2</a> (10q26.11); <a target="_blank" title="SIX3 - ID: 6496 - NCBI Gene" href="/gene/6496" class="medgenPMinfo">SIX3</a> (2p21)</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:0010636">HP:0010636</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0010011" target="_blank">MONDO:0010011</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/269160" target="_blank">269160</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=799">ORPHA799</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
||
<div class="portlet mgSection" id="ID_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">Brunelli et al. (1996) described schizencephaly as an extremely rare congenital disorder characterized by a full-thickness cleft within the cerebral hemispheres. The clefts are lined with gray matter and most commonly involve the parasylvian regions (Wolpert and Barnes, 1992). Large portions of the cerebral hemispheres may be absent and replaced by cerebrospinal fluid. Two types of schizencephaly have been described, depending on the size of the area involved and the separation of the cleft lips (Wolpert and Barnes, 1992). Type I schizencephaly consists of a fused cleft. This fused pial-ependymal seam forms a furrow in the developing brain, and is lined by polymicrogyric gray matter. In type II schizencephaly, there is a large defect, a holohemispheric cleft in the cerebral cortex filled with fluid and lined by polymicrogyric gray matter. The clinical manifestations depend on the severity of the lesion. Patients with type I are often almost normal; they may have seizures and spasticity. In type II abnormalities, there is usually mental retardation, seizures, hypotonia, spasticity, inability to walk or speak, and blindness. Schizencephaly may be part of the larger phenotypic spectrum of holoprosencephaly (HPE; see 236100). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_104498"><div><strong>Corpus callosum, agenesis of</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>104498</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0175754</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The corpus callosum is the largest fiber tract in the central nervous system and the major interhemispheric fiber bundle in the brain. Formation of the corpus callosum begins as early as 6 weeks' gestation, with the first fibers crossing the midline at 11 to 12 weeks' gestation, and completion of the basic shape by age 18 to 20 weeks (Schell-Apacik et al., 2008). Agenesis of the corpus callosum (ACC) is one of the most frequent malformations in brain with a reported incidence ranging between 0.5 and 70 in 10,000 births. ACC is a clinically and genetically heterogeneous condition, which can be observed either as an isolated condition or as a manifestation in the context of a congenital syndrome (see MOLECULAR GENETICS and Dobyns, 1996). Also see mirror movements-1 and/or agenesis of the corpus callosum (MRMV1; 157600). Schell-Apacik et al. (2008) noted that there is confusion in the literature regarding radiologic terminology concerning partial absence of the corpus callosum, where various designations have been used, including hypogenesis, hypoplasia, partial agenesis, or dysgenesis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/104498">Feature record</a> | <a href="/medgen?term=%22Corpus%20callosum%2C%20agenesis%20of%22%5BClinical%20Features%5D%20OR%20104498%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_78606"><div><strong>Schizencephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78606</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C0266484</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Brunelli et al. (1996) described schizencephaly as an extremely rare congenital disorder characterized by a full-thickness cleft within the cerebral hemispheres. The clefts are lined with gray matter and most commonly involve the parasylvian regions (Wolpert and Barnes, 1992). Large portions of the cerebral hemispheres may be absent and replaced by cerebrospinal fluid. Two types of schizencephaly have been described, depending on the size of the area involved and the separation of the cleft lips (Wolpert and Barnes, 1992). Type I schizencephaly consists of a fused cleft. This fused pial-ependymal seam forms a furrow in the developing brain, and is lined by polymicrogyric gray matter. In type II schizencephaly, there is a large defect, a holohemispheric cleft in the cerebral cortex filled with fluid and lined by polymicrogyric gray matter. The clinical manifestations depend on the severity of the lesion. Patients with type I are often almost normal; they may have seizures and spasticity. In type II abnormalities, there is usually mental retardation, seizures, hypotonia, spasticity, inability to walk or speak, and blindness. Schizencephaly may be part of the larger phenotypic spectrum of holoprosencephaly (HPE; see 236100).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78606">Feature record</a> | <a href="/medgen?term=%22Schizencephaly%22%5BClinical%20Features%5D%20OR%2078606%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_1646740"><div><strong>Cerebral cortical atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1646740</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.">C4551583</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Atrophy of the cortex of the cerebrum.</div>
|
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<div class="spaceAbove nowrap">See: <a href="/medgen/1646740">Feature record</a> | <a href="/medgen?term=%22Cerebral%20cortical%20atrophy%22%5BClinical%20Features%5D%20OR%201646740%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite"><ul><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1646740" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebral cortical atrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_104498" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Corpus callosum, agenesis of</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_78606" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Schizencephaly</a></span></li></ul></li></ul></div></div>
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</div>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0266484[DISCUI]&test_type=Clinical" ref="ncbi_uid=78606">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=78606" target="_blank" href="/omim/269160">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=78606" ref="ncbi_uid=78606">V</a></span></span><span class="TLline">Schizencephaly</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/105425" ref="tree=MeSH" title="MedGen record for Abnormality of the nervous system">Abnormality of the nervous system</a></span><ul><li><span class="TLline"><a href="/medgen/868416" ref="tree=MeSH" title="MedGen record for Abnormal nervous system morphology">Abnormal nervous system morphology</a></span><ul><li><span class="TLline"><a href="/medgen/892343" ref="tree=MeSH" title="MedGen record for Morphological central nervous system abnormality">Morphological central nervous system abnormality</a></span><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="matched_ds">Schizencephaly</span><ul><li><span class="TLline"><a href="/medgen/1825983" ref="tree=MeSH" title="MedGen record for Acquired schizencephaly">Acquired schizencephaly</a></span></li><li><span class="TLline"><a href="/medgen/419186" ref="tree=MeSH" title="MedGen record for Familial schizencephaly">Familial schizencephaly</a></span></li><li><span class="TLline"><a href="/medgen/1814208" ref="tree=MeSH" title="MedGen record for Type 1 schizencephaly">Type 1 schizencephaly</a></span></li><li><span class="TLline"><a href="/medgen/1814209" ref="tree=MeSH" title="MedGen record for Type 2 schizencephaly">Type 2 schizencephaly</a></span></li><li><span class="TLline"><a href="/medgen/1814210" ref="tree=MeSH" title="MedGen record for Type 3 schizencephaly">Type 3 schizencephaly</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=580&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Schizencephaly</span> in Orphanet.</div></div></div>
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||
</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>
|
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<div class="portlet_content ln clinfeat">
|
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<div class="divPopper rprt" id="rdis_78606"><div><strong>Schizencephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78606</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C0266484</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Brunelli et al. (1996) described schizencephaly as an extremely rare congenital disorder characterized by a full-thickness cleft within the cerebral hemispheres. The clefts are lined with gray matter and most commonly involve the parasylvian regions (Wolpert and Barnes, 1992). Large portions of the cerebral hemispheres may be absent and replaced by cerebrospinal fluid. Two types of schizencephaly have been described, depending on the size of the area involved and the separation of the cleft lips (Wolpert and Barnes, 1992). Type I schizencephaly consists of a fused cleft. This fused pial-ependymal seam forms a furrow in the developing brain, and is lined by polymicrogyric gray matter. In type II schizencephaly, there is a large defect, a holohemispheric cleft in the cerebral cortex filled with fluid and lined by polymicrogyric gray matter. The clinical manifestations depend on the severity of the lesion. Patients with type I are often almost normal; they may have seizures and spasticity. In type II abnormalities, there is usually mental retardation, seizures, hypotonia, spasticity, inability to walk or speak, and blindness. Schizencephaly may be part of the larger phenotypic spectrum of holoprosencephaly (HPE; see 236100).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78606">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_340962"><div><strong>Vici syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340962</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.">C1855772</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">With the current widespread use of multigene panels and comprehensive genomic testing, it has become apparent that the phenotypic spectrum of EPG5-related disorder represents a continuum. At the most severe end of the spectrum is classic Vici syndrome (defined as a neurodevelopmental disorder with multisystem involvement characterized by the combination of agenesis of the corpus callosum, cataracts, hypopigmentation, cardiomyopathy, combined immunodeficiency, microcephaly, and failure to thrive); at the milder end of the spectrum are attenuated neurodevelopmental phenotypes with variable multisystem involvement. Median survival in classic Vici syndrome appears to be 24 months, with only 10% of children surviving longer than age five years; the most common causes of death are respiratory infections as a result of primary immunodeficiency and/or cardiac insufficiency resulting from progressive cardiac failure. No data are available on life span in individuals at the milder end of the spectrum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/340962">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) 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_482600"><div><strong>Porencephaly 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>482600</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.">C3280970</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Brain small vessel disease-2 is an autosomal dominant disorder characterized by variable neurologic impairment resulting from disturbed vascular supply that leads to cerebral degeneration. The disorder is often associated with 'porencephaly' on brain imaging. Affected individuals typically have hemiplegia, seizures, and intellectual disability, although the severity is variable (summary by Yoneda et al., 2012). For a discussion of genetic heterogeneity of brain small vessel disease, see BSVD1 (175780).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/482600">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_815174"><div><strong>Osteogenesis imperfecta type 15</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>815174</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.">C3808844</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by bone fragility and low bone mass. Due to considerable phenotypic variability, Sillence et al. (1979) developed a classification of OI subtypes based on clinical features and disease severity: OI type I, with blue sclerae (166200); perinatal lethal OI type II, also known as congenital OI (166210); OI type III, a progressively deforming form with normal sclerae (259420); and OI type IV, with normal sclerae (166220). Most forms of OI are autosomal dominant with mutations in one of the 2 genes that code for type I collagen alpha chains, COL1A1 (120150) and COL1A2 (120160). Keupp et al. (2013) and Pyott et al. (2013) described osteogenesis imperfecta type XV, an autosomal recessive form of the disorder characterized by early-onset recurrent fractures, bone deformity, significant reduction of bone density, short stature, and, in some patients, blue sclera. Tooth development and hearing are normal. Learning and developmental delays and brain anomalies have been observed in some patients.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/815174">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1647320"><div><strong>Brain small vessel disease 1 with or without ocular anomalies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1647320</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.">C4551998</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">The spectrum of COL4A1-related disorders includes: small-vessel brain disease of varying severity including porencephaly, variably associated with eye defects (retinal arterial tortuosity, Axenfeld-Rieger anomaly, cataract) and systemic findings (kidney involvement, muscle cramps, cerebral aneurysms, Raynaud phenomenon, cardiac arrhythmia, and hemolytic anemia). On imaging studies, small-vessel brain disease is manifest as diffuse periventricular leukoencephalopathy, lacunar infarcts, microhemorrhage, dilated perivascular spaces, and deep intracerebral hemorrhages. Clinically, small-vessel brain disease manifests as infantile hemiparesis, seizures, single or recurrent hemorrhagic stroke, ischemic stroke, and isolated migraine with aura. Porencephaly (fluid-filled cavities in the brain detected by CT or MRI) is typically manifest as infantile hemiparesis, seizures, and intellectual disability; however, on occasion it can be an incidental finding. HANAC (hereditary angiopathy with nephropathy, aneurysms, and muscle cramps) syndrome usually associates asymptomatic small-vessel brain disease, cerebral large vessel involvement (i.e., aneurysms), and systemic findings involving the kidney, muscle, and small vessels of the eye. Two additional phenotypes include isolated retinal artery tortuosity and nonsyndromic autosomal dominant congenital cataract.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/1647320">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1824043"><div><strong>Cortical dysplasia, complex, with other brain malformations 11</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1824043</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.">C5774270</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Complex cortical dysplasia with other brain malformations-11 (CDCBM11) is an autosomal recessive disorder characterized by dilated ventricles and reduced white matter and associated with axonal developmental defects (Qian et al., 2022). For a discussion of genetic heterogeneity of CDCBM, see CDCBM1 (614039).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1824043">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1647320" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Brain small vessel disease 1 with or without ocular anomalies</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1824043" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cortical dysplasia, complex, with other brain malformations 11</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_815174" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Osteogenesis imperfecta type 15</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_482600" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Porencephaly 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_78606" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Schizencephaly</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_340962" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vici syndrome</a></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/39016117">Multiorgan manifestations of COL4A1 and COL4A2 variants and proposal for a clinical management protocol.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gasparini S,
|
||
Balestrini S,
|
||
Saccaro LF,
|
||
Bacci G,
|
||
Panichella G,
|
||
Montomoli M,
|
||
Cantalupo G,
|
||
Bigoni S,
|
||
Mancano G,
|
||
Pellacani S,
|
||
Leuzzi V,
|
||
Volpi N,
|
||
Mari F,
|
||
Melani F,
|
||
Cavallin M,
|
||
Pisano T,
|
||
Porcedda G,
|
||
Vaglio A,
|
||
Mei D,
|
||
Barba C,
|
||
Parrini E,
|
||
Guerrini R</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2024 Dec;196(4):e32099.
|
||
Epub 2024 Jul 17
|
||
doi: 10.1002/ajmg.c.32099.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39016117" target="_blank">39016117</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=(%22schizencephaly%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 (8)</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/35642769">Sudden Unexpected Death in Epilepsy: A Report of Three Commonly Encountered Anatomic Findings in the Forensic Setting With Recommendations for Best Practices.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jordan RD,
|
||
Coscia M,
|
||
Lantz P,
|
||
Harrison W</span><br />
|
||
<span class="medgenPMjournal">Am J Forensic Med Pathol</span>
|
||
2022 Sep 1;43(3):259-262.
|
||
Epub 2022 May 28
|
||
doi: 10.1097/PAF.0000000000000773.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35642769" target="_blank">35642769</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29298944">Neuronal Migration Disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Roberts B</span><br />
|
||
<span class="medgenPMjournal">Radiol Technol</span>
|
||
2018 Jan;89(3):279-295.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29298944" target="_blank">29298944</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/19664975">Prenatal stroke.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Govaert P</span><br />
|
||
<span class="medgenPMjournal">Semin Fetal Neonatal Med</span>
|
||
2009 Oct;14(5):250-66.
|
||
Epub 2009 Aug 6
|
||
doi: 10.1016/j.siny.2009.07.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19664975" target="_blank">19664975</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19536565">Genetic basis in epilepsies caused by malformations of cortical development and in those with structurally normal brain.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Andrade DM</span><br />
|
||
<span class="medgenPMjournal">Hum Genet</span>
|
||
2009 Jul;126(1):173-93.
|
||
Epub 2009 Jun 18
|
||
doi: 10.1007/s00439-009-0702-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19536565" target="_blank">19536565</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Schizencephaly%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 (109)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37263843">Schizencephaly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pérez Bazaga LJ,
|
||
Aguilera García C,
|
||
Córdoba López A</span><br />
|
||
<span class="medgenPMjournal">Med Clin (Barc)</span>
|
||
2023 Sep 8;161(5):230.
|
||
Epub 2023 May 30
|
||
doi: 10.1016/j.medcli.2023.03.038.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37263843" target="_blank">37263843</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34896352">Magnetic Resonance Imaging of Malformations of Cortical Development-A Comprehensive Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Khandelwal A,
|
||
Aggarwal A,
|
||
Sharma A,
|
||
Malik A,
|
||
Bose A</span><br />
|
||
<span class="medgenPMjournal">World Neurosurg</span>
|
||
2022 Mar;159:70-79.
|
||
Epub 2021 Dec 8
|
||
doi: 10.1016/j.wneu.2021.12.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34896352" target="_blank">34896352</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33168214">Absent Cavum Septi Pellucidi.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Society for Maternal-Fetal Medicine (SMFM),
|
||
Ward A,
|
||
Monteagudo A</span><br />
|
||
<span class="medgenPMjournal">Am J Obstet Gynecol</span>
|
||
2020 Dec;223(6):B23-B26.
|
||
Epub 2020 Nov 7
|
||
doi: 10.1016/j.ajog.2020.08.180.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33168214" target="_blank">33168214</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18809029">Schizencephaly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Granata T,
|
||
Battaglia G</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2008;87:235-46.
|
||
doi: 10.1016/S0072-9752(07)87015-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18809029" target="_blank">18809029</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8214352">Familial schizencephaly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hilburger AC,
|
||
Willis JK,
|
||
Bouldin E,
|
||
Henderson-Tilton A</span><br />
|
||
<span class="medgenPMjournal">Brain Dev</span>
|
||
1993 May-Jun;15(3):234-6.
|
||
doi: 10.1016/0387-7604(93)90072-g.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8214352" target="_blank">8214352</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Schizencephaly%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 (207)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/28114705">Recurrence of Epileptic Spasms as Reflex Seizures Induced by Eating: A Case Report and Literature Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kobayashi Y,
|
||
Ishikawa N,
|
||
Tani H,
|
||
Fujii Y,
|
||
Kobayashi M</span><br />
|
||
<span class="medgenPMjournal">Neuropediatrics</span>
|
||
2017 Apr;48(2):119-122.
|
||
Epub 2017 Jan 23
|
||
doi: 10.1055/s-0037-1598111.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28114705" target="_blank">28114705</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27727044">New-Onset Seizure Associated With Schizencephaly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Greenstein J,
|
||
Panzo W,
|
||
Klein D,
|
||
Bock J,
|
||
Hahn B</span><br />
|
||
<span class="medgenPMjournal">J Emerg Med</span>
|
||
2017 Mar;52(3):e81-e82.
|
||
Epub 2016 Oct 8
|
||
doi: 10.1016/j.jemermed.2016.08.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27727044" target="_blank">27727044</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26351064">Botulinum toxin A injection of UES in schizencephaly with dysphagia: Case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nam KY,
|
||
Kim C,
|
||
Park JW,
|
||
Lee HJ,
|
||
Kwon BS</span><br />
|
||
<span class="medgenPMjournal">Int J Pediatr Otorhinolaryngol</span>
|
||
2015 Nov;79(11):1935-7.
|
||
Epub 2015 Aug 13
|
||
doi: 10.1016/j.ijporl.2015.08.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26351064" target="_blank">26351064</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22744256">Malformations of cortical development with good clinical outcome: a case report and review of literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yanase M,
|
||
Kaido T,
|
||
Yamada M,
|
||
Watanabe M</span><br />
|
||
<span class="medgenPMjournal">BMJ Case Rep</span>
|
||
2012 Jun 28;2012
|
||
doi: 10.1136/bcr-11-2011-5219.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22744256" target="_blank">22744256</a><a href="/pmc/articles/PMC4543003" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16206975">Searching for motor functions in dysgenic cortex: a clinical transcranial magnetic stimulation and functional magnetic resonance imaging study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Staudt M,
|
||
Krägeloh-Mann I,
|
||
Holthausen H,
|
||
Gerloff C,
|
||
Grodd W</span><br />
|
||
<span class="medgenPMjournal">J Neurosurg</span>
|
||
2004 Aug;101(1 Suppl):69-77.
|
||
doi: 10.3171/ped.2004.101.2.0069.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16206975" target="_blank">16206975</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Schizencephaly%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 (27)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33168214">Absent Cavum Septi Pellucidi.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Society for Maternal-Fetal Medicine (SMFM),
|
||
Ward A,
|
||
Monteagudo A</span><br />
|
||
<span class="medgenPMjournal">Am J Obstet Gynecol</span>
|
||
2020 Dec;223(6):B23-B26.
|
||
Epub 2020 Nov 7
|
||
doi: 10.1016/j.ajog.2020.08.180.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33168214" target="_blank">33168214</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31776716">A journey through formation and malformations of the neo-cortex.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Reghunath A,
|
||
Ghasi RG</span><br />
|
||
<span class="medgenPMjournal">Childs Nerv Syst</span>
|
||
2020 Jan;36(1):27-38.
|
||
Epub 2019 Nov 27
|
||
doi: 10.1007/s00381-019-04429-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31776716" target="_blank">31776716</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30501885">Schizencephaly: A Review of 734 Patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Braga VL,
|
||
da Costa MDS,
|
||
Riera R,
|
||
Dos Santos Rocha LP,
|
||
de Oliveira Santos BF,
|
||
Matsumura Hondo TT,
|
||
de Oliveira Chagas M,
|
||
Cavalheiro S</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2018 Oct;87:23-29.
|
||
Epub 2018 Aug 8
|
||
doi: 10.1016/j.pediatrneurol.2018.08.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30501885" target="_blank">30501885</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16939859">Neuroimaging abnormalities in infants with congenital hemiparesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wu YW,
|
||
Lindan CE,
|
||
Henning LH,
|
||
Yoshida CK,
|
||
Fullerton HJ,
|
||
Ferriero DM,
|
||
Barkovich AJ,
|
||
Croen LA</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2006 Sep;35(3):191-6.
|
||
doi: 10.1016/j.pediatrneurol.2006.03.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16939859" target="_blank">16939859</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10405446">Albinism and agenesis of the corpus callosum with profound developmental delay: Vici syndrome, evidence for autosomal recessive inheritance.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">del Campo M,
|
||
Hall BD,
|
||
Aeby A,
|
||
Nassogne MC,
|
||
Verloes A,
|
||
Roche C,
|
||
Gonzalez C,
|
||
Sanchez H,
|
||
Garcia-Alix A,
|
||
Cabanas F,
|
||
Escudero RM,
|
||
Hernandez R,
|
||
Quero J</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet</span>
|
||
1999 Aug 27;85(5):479-85.
|
||
doi: 10.1002/(sici)1096-8628(19990827)85:5<479::aid-ajmg9>3.3.co;2-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10405446" target="_blank">10405446</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Schizencephaly%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 (55)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35726608">Neurological outcome in WDR62 primary microcephaly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ruaud L,
|
||
Drunat S,
|
||
Elmaleh-Bergès M,
|
||
Ernault A,
|
||
Guilmin Crepon S;
|
||
MCPH Consortium,
|
||
El Ghouzzi V,
|
||
Auvin S,
|
||
Verloes A,
|
||
Passemard S</span><br />
|
||
<span class="medgenPMjournal">Dev Med Child Neurol</span>
|
||
2022 Apr;64(4):509-517.
|
||
Epub 2021 Sep 25
|
||
doi: 10.1111/dmcn.15060.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35726608" target="_blank">35726608</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30501885">Schizencephaly: A Review of 734 Patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Braga VL,
|
||
da Costa MDS,
|
||
Riera R,
|
||
Dos Santos Rocha LP,
|
||
de Oliveira Santos BF,
|
||
Matsumura Hondo TT,
|
||
de Oliveira Chagas M,
|
||
Cavalheiro S</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2018 Oct;87:23-29.
|
||
Epub 2018 Aug 8
|
||
doi: 10.1016/j.pediatrneurol.2018.08.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30501885" target="_blank">30501885</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23503883">Clinical and radiologic features of unilateral and bilateral schizencephaly in polish pediatric patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kopyta I,
|
||
Jamroz E,
|
||
Kluczewska E,
|
||
Sarecka-Hujar B</span><br />
|
||
<span class="medgenPMjournal">J Child Neurol</span>
|
||
2014 Apr;29(4):442-9.
|
||
Epub 2013 Mar 14
|
||
doi: 10.1177/0883073813478660.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23503883" target="_blank">23503883</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9450779">Cytomegalovirus infection and schizencephaly: case reports.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Iannetti P,
|
||
Nigro G,
|
||
Spalice A,
|
||
Faiella A,
|
||
Boncinelli E</span><br />
|
||
<span class="medgenPMjournal">Ann Neurol</span>
|
||
1998 Jan;43(1):123-7.
|
||
doi: 10.1002/ana.410430122.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9450779" target="_blank">9450779</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8167968">Severe schizencephaly without neurological abnormality.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bisgård C,
|
||
Herning M</span><br />
|
||
<span class="medgenPMjournal">Seizure</span>
|
||
1993 Jun;2(2):151-3.
|
||
doi: 10.1016/s1059-1311(05)80121-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8167968" target="_blank">8167968</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Schizencephaly%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 (58)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0266484%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (42)</a></li>
|
||
<li><a href="/gtr/tests?term=C0266484%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0266484%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (44)</a></li>
|
||
<li><a href="/gtr/tests?term=C0266484%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (4)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0266484%5bDISCUI%5d" target="_blank">See all (57)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=269160" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=799" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Schizencephaly" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22schizencephaly%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Schizencephaly%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_115">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=600035%20603714" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=2018[geneid]" target="_blank">View EMX2 variations in ClinVar</a></li><li><a href="/clinvar/?term=6496[geneid]" target="_blank">View SIX3 variations in ClinVar</a></li><li><a href="/nuccore/260593641,281306740" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=269160" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Schizencephaly/6441" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/schizencephaly" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Schizencephaly" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/166/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Schizencephaly" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Schizencephaly%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
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|
||
<h3>Related information</h3>
|
||
</div>
|
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||
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|
||
<div class="portlet_content DiscoveryDbLinks">
|
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<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=78606" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
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<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=78606" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0266484[DISCUI]" ref="log$=recordlinks">GTR</a>
|
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<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0266484[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
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<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
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|
||
<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=78606" ref="log$=recordlinks">MeSH</a>
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|
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=78606" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=78606" ref="log$=recordlinks">OMIM(Genes)</a>
|
||
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=78606" ref="log$=recordlinks">PMC Articles</a>
|
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<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
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|
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<li class="brieflinkpopper">
|
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=78606" ref="log$=recordlinks">PubMed</a>
|
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<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
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|
||
<li class="brieflinkpopper">
|
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=78606" ref="log$=recordlinks">PubMed (OMIM)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</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 class="action">
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||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cc4da7a68b6b5afc24dad6">Schizencephaly</a>
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<div class="ralinkpop offscreen_noflow">Schizencephaly<div class="brieflinkpopdesc"></div></div>
|
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<div class="tertiary">MedGen</div>
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<a class="htb" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67cc4da6a68b6b5afc24d3f3">C0266484[conceptid] <span class="number">(1)</span></a>
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<div class="tertiary">MedGen</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67cc4da584f3725e59ed6ae2">C0265227[trait identifier] AND "Fulgent Genetics, Fulgent Genetic... <span class="number">(11)</span></a>
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<div class="ralinkpop offscreen_noflow">C0265227[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[submitter]<div class="brieflinkpopdesc">Search</div></div>
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<div class="tertiary">ClinVar</div>
|
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67cc4da4a68b6b5afc24ca02">C0877024[trait identifier] AND "Fulgent Genetics, Fulgent Genetic... <span class="number">(209)</span></a>
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<div class="ralinkpop offscreen_noflow">C0877024[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[submitter]<div class="brieflinkpopdesc">Search</div></div>
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<div class="tertiary">ClinVar</div>
|
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</li>
|
||
<li class="ra_qry ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67cc4da3f4a390645ef475a0">C5575066[trait identifier] AND "Fulgent Genetics, Fulgent Genetic... <span class="number">(12)</span></a>
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<div class="ralinkpop offscreen_noflow">C5575066[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[submitter]<div class="brieflinkpopdesc">Search</div></div>
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<div class="tertiary">ClinVar</div>
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