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<title>
Entry
- #247200 - MILLER-DIEKER LISSENCEPHALY SYNDROME; MDLS
- OMIM
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<span class="h4">#247200</span>
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="/clinicalSynopsis/247200"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS607432"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#clinicalFeatures">Clinical Features</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#cytogenetics">Cytogenetics</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#inheritance">Inheritance</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#diagnosis">Diagnosis</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9660;</div>
&nbsp;
<div style="display: table-cell;">Clinical Resources</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
<div class="panel-body small mim-panel-body">
<div><a href="https://clinicaltrials.gov/search?cond=MILLER-DIEKER LISSENCEPHALY SYNDROME" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
<div><a href="https://decipher.sanger.ac.uk/syndrome/21" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=4054&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
<div><a href="https://medlineplus.gov/genetics/condition/miller-dieker-syndrome" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=247200[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=531" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/d8fc5ec5-f114-4b59-966a-2fcec3a07ac1/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Animal Models</div>
</div>
</a>
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</span>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://www.alliancegenome.org/disease/DOID:0060469" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
<div><a href="http://www.informatics.jax.org/disease/247200" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
<span class="panel-title">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
<div style="display: table-row">
<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Cell Lines</div>
</div>
</a>
</span>
</span>
</div>
<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://catalog.coriell.org/Search?q=OmimNum:247200" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
</div>
</div>
</div>
</div>
</div>
</div>
<span>
<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
&nbsp;
</span>
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</div>
<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
<div>
<a id="title" class="mim-anchor"></a>
<div>
<a id="number" class="mim-anchor"></a>
<div class="text-right">
<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
<strong>SNOMEDCT:</strong> 204036008, 253148005<br />
<strong>ICD10CM:</strong> Q93.88<br />
<strong>ORPHA:</strong> 531<br />
<strong>DO:</strong> 0060469<br />
">ICD+</a>
</div>
<div>
<span class="h3">
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
247200
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
MILLER-DIEKER LISSENCEPHALY SYNDROME; MDLS
</span>
</h3>
</div>
<div>
<br />
</div>
<div>
<a id="alternativeTitles" class="mim-anchor"></a>
<div>
<p>
<span class="mim-font">
<em>Alternative titles; symbols</em>
</span>
</p>
</div>
<div>
<h4>
<span class="mim-font">
MDS
</span>
</h4>
</div>
</div>
<div>
<br />
</div>
<div>
<a id="includedTitles" class="mim-anchor"></a>
<div>
<p>
<span class="mim-font">
Other entities represented in this entry:
</span>
</p>
</div>
<div>
<span class="h3 mim-font">
CHROMOSOME 17p13.3 DELETION SYNDROME, INCLUDED
</span>
</div>
<div>
<span class="h4 mim-font">
MILLER-DIEKER SYNDROME CHROMOSOME REGION, INCLUDED; MDCR, INCLUDED
</span>
</div>
</div>
<div>
<br />
</div>
</div>
<div>
<a id="cytogeneticLocation" class="mim-anchor"></a>
<p>
<span class="mim-text-font">
<strong>
<em>
Cytogenetic location: <a href="/geneMap/17/6?start=-3&limit=10&highlight=6">17p13.3</a>
&nbsp;
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr17:1-3400000&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">17:1-3,400,000</a> </span>
</em>
</strong>
</span>
</p>
</div>
<div>
<br />
</div>
<div>
<a id="geneMap" class="mim-anchor"></a>
<div style="margin-bottom: 10px;">
<span class="h4 mim-font">
<strong>Gene-Phenotype Relationships</strong>
</span>
</div>
<div>
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
<thead>
<tr class="active">
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
</tr>
</thead>
<tbody>
<tr>
<td rowspan="1">
<span class="mim-font">
<a href="/geneMap/17/6?start=-3&limit=10&highlight=6">
17p13.3
</a>
</span>
</td>
<td>
<span class="mim-font">
Miller-Dieker lissencephaly syndrome
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/247200"> 247200 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="4 - A contiguous gene duplication or deletion syndrome in which multiple genes are involved">4</abbr>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<div class="btn-group ">
<a href="/clinicalSynopsis/247200" class="btn btn-warning" role="button"> Clinical Synopsis </a>
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
<span class="caret"></span>
<span class="sr-only">Toggle Dropdown</span>
</button>
</div>
&nbsp;
<div class="btn-group">
<a href="/phenotypicSeries/PS607432" class="btn btn-info" role="button"> Phenotypic Series </a>
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
<span class="caret"></span>
<span class="sr-only">Toggle Dropdown</span>
</button>
</div>
&nbsp;
<div class="btn-group">
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
PheneGene Graphics <span class="caret"></span>
</button>
<ul class="dropdown-menu" style="width: 17em;">
<li><a href="/graph/linear/247200" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/247200" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
</ul>
</div>
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
<div>
<p />
</div>
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small" style="margin: 5px">
<div>
<div>
<span class="h5 mim-font">
<strong> INHERITANCE </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> GROWTH </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Height </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Intrauterine growth retardation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22033007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22033007</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/764.90" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">764.90</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/764.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">764.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0015934&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0015934</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001511" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001511</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001511" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001511</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Other </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Failure to thrive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/432788009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">432788009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/54840006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">54840006</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0015544&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0015544</a>, <a href="https://bioportal.bioontology.org/search?q=C2315100&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2315100</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001508</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001508</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> HEAD & NECK </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Head </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Microcephaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1148757008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1148757008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q02" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q02</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/742.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">742.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4551563&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551563</a>, <a href="https://bioportal.bioontology.org/search?q=C0025958&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025958</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000252</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000252</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=0584d323b99dcd7001cc50e224947aca" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Microcephaly-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=0584d323b99dcd7001cc50e224947aca&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Face </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Bitemporal hollowing <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855488&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855488</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0025386" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0025386</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0025386" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0025386</a>]</span><br /> -
Furrowing of forehead <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0239674&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0239674</a>]</span><br /> -
Micrognathia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/32958008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">32958008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M26.04" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M26.04</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/524.04" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">524.04</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0025990&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025990</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000347" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000347</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000347" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000347</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=9149eccae19753e96defbd69602ab882" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Micrognathia-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=9149eccae19753e96defbd69602ab882&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Ears </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Low-set ears <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95515009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95515009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q17.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q17.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0239234&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0239234</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000369" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000369</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000369" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000369</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=9f0956aaa4fd45c34f94336afbbdc931" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Ear,Low-Set-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=9f0956aaa4fd45c34f94336afbbdc931&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Posteriorly rotated ears <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253251006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253251006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0431478&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0431478</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000358" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000358</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000358" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000358</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Eyes </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Cataract <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/193570009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">193570009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/247053007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">247053007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H26.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H26.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/366" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">366</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/366.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">366.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0086543&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0086543</a>, <a href="https://bioportal.bioontology.org/search?q=C1690964&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1690964</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000518" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000518</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000518" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000518</a>]</span><br /> -
Upslanting palpebral fissures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/246799009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">246799009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0423109&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0423109</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000582" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000582</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000582" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000582</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Nose </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Small nose <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249310005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249310005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0426414&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0426414</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003196" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003196</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003196" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003196</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=25661c4279536e7705f328dbb0964878" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Nose,Short-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=25661c4279536e7705f328dbb0964878&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Upturned nares <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/708670007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">708670007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1840077&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1840077</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000463" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000463</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000463" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000463</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Mouth </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Prominent upper lip <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1846423&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1846423</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000215" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000215</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000215" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000215</a>]</span><br /> -
Thin vermilion border of upper lip <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1865017&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1865017</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000219" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000219</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000219" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000219</a>]</span><br /> -
Cleft palate <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/63567004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">63567004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/87979003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">87979003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q35.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q35.5</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q35" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q35</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q35.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q35.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/749.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">749.00</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/749.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">749.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837218&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837218</a>, <a href="https://bioportal.bioontology.org/search?q=C2981150&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2981150</a>, <a href="https://bioportal.bioontology.org/search?q=C2240378&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2240378</a>, <a href="https://bioportal.bioontology.org/search?q=C0008925&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0008925</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000175" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000175</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000175" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000175</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Teeth </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Late tooth eruption <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/5639000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">5639000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0239174&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0239174</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000684" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000684</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000684" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000684</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> CARDIOVASCULAR </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Heart </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Congenital heart defect <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/13213009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">13213009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q24.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q24.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/746.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">746.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018798&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018798</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001627" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001627</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001627" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001627</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> RESPIRATORY </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Lung </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Aspiration pneumonia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/155597006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">155597006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/422588002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">422588002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/J69.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">J69.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1761609&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1761609</a>, <a href="https://bioportal.bioontology.org/search?q=C0032290&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0032290</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011951" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011951</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011951" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011951</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> ABDOMEN </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> External Features </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Inguinal hernia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/396232000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">396232000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K40</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/K40.90" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K40.90</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/550" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">550</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0019294&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019294</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000023" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000023</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000023" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000023</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Gastrointestinal </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Duodenal atresia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/51118003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">51118003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266174&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266174</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002247" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002247</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002247" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002247</a>]</span><br /> -
Omphalocele <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/18735004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">18735004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q79.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q79.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/756.72" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">756.72</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0795690&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0795690</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001539" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001539</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001539" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001539</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> GENITOURINARY </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Internal Genitalia (Male) </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Cryptorchidism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204878001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204878001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q53.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q53.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/752.51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">752.51</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0010417&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0010417</a>, <a href="https://bioportal.bioontology.org/search?q=C5441920&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5441920</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000028" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000028</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000028" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000028</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Kidneys </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Cystic kidney <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0022679&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022679</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000107" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000107</a>]</span><br /> -
Pelvic kidney <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/56108007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">56108007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221209&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221209</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000125" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000125</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000125" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000125</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> SKELETAL </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Hands </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Polydactyly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/367506006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">367506006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q69.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q69.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q69" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q69</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/755.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">755.00</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/755.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">755.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0152427&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0152427</a>, <a href="https://bioportal.bioontology.org/search?q=C2117329&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2117329</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010442" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010442</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010442" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010442</a>]</span><br /> -
Transverse palmar creases <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/248409006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">248409006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0424731&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0424731</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000954" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000954</a>]</span><br /> -
Clinodactyly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/17268007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">17268007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4551485&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551485</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030084" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030084</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030084" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030084</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=6c6553591f42fb5585fec835d3e3bab3" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Clinodactyly-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=6c6553591f42fb5585fec835d3e3bab3&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Camptodactyly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/29271008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">29271008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221369&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221369</a>, <a href="https://bioportal.bioontology.org/search?q=C0685409&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0685409</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012385" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012385</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012385" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012385</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=56cd131f7e4abed85662f1f7e23b10a2" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Camptodactyly-large-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=56cd131f7e4abed85662f1f7e23b10a2&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> SKIN, NAILS, & HAIR </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Skin </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Transverse palmar creases <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/248409006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">248409006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0424731&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0424731</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000954" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000954</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> NEUROLOGIC </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Central Nervous System </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Agyria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204036008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204036008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q04.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q04.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1879312&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1879312</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0031882" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0031882</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0031882" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0031882</a>]</span><br /> -
Pachygyria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/23024003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">23024003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q04.8" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q04.8</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q04.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q04.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266483&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266483</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001302" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001302</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001302" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001302</a>]</span><br /> -
Hypotonia early <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860834&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860834</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008947" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008947</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008947" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008947</a>]</span><br /> -
Hypertonia late <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855482&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855482</a>]</span><br /> -
Motor retardation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398991009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398991009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1144814003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1144814003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0424230&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0424230</a>, <a href="https://bioportal.bioontology.org/search?q=C5441816&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5441816</a>, <a href="https://bioportal.bioontology.org/search?q=C1854301&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854301</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001270" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001270</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001270" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001270</a>]</span><br /> -
Mental retardation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/228156007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">228156007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/110359009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">110359009</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/317-319.99" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">317-319.99</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3714756&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3714756</a>, <a href="https://bioportal.bioontology.org/search?q=C0025362&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025362</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span><br /> -
Decorticate posture <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/85157005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">85157005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0231475&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0231475</a>]</span><br /> -
Decerebrate posture <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/23073007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">23073007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0231474&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0231474</a>]</span><br /> -
Progressive spastic paraplegia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855483&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855483</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007020" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007020</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007020" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007020</a>]</span><br /> -
Infantile spasms <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/28055006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">28055006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G40.82" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G40.82</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/345.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">345.6</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3887898&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3887898</a>, <a href="https://bioportal.bioontology.org/search?q=C0037769&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0037769</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011097" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011097</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0012469" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012469</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012469" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012469</a>]</span><br /> -
Seizures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/91175000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">91175000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0036572&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036572</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span><br /> -
Heterotopias <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/719446000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">719446000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/128490007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">128490007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/417338002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">417338002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0008519&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0008519</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002282" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002282</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002282" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002282</a>]</span><br /> -
Absent/Hypoplastic corpus callosum <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861866&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861866</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007370" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007370</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007370" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007370</a>]</span><br /> -
Large cavum septi pellucidi <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1840380&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1840380</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002389" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002389</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002389" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002389</a>]</span><br /> -
Failure of opercularization of the frontal and temporal lobes on CT <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855486&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855486</a>]</span><br /> -
Midline brain calcifications <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855487&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855487</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007045" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007045</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007045" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007045</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> PRENATAL MANIFESTATIONS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Movement </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Decreased fetal activity <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/276369006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">276369006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/O36.8190" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">O36.8190</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/O36.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">O36.81</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0235659&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0235659</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001558" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001558</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001558" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001558</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Amniotic Fluid </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Polyhydramnios <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/86203003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">86203003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/O40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">O40</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/657.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">657.0</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/657" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">657</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020224&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020224</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001561" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001561</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001561" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001561</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> LABORATORY ABNORMALITIES </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Cytogenetic deletion of chromosome 17p13.3 <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855492&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855492</a>]</span><br /> -
Fluorescence in situ hybridization specific probe for MDS critical region <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855493&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855493</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MISCELLANEOUS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Death often before age 2<br /> -
Contiguous gene syndrome <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855496&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855496</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001466" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001466</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001466" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001466</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MOLECULAR BASIS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- A contiguous gene syndrome caused by deletion of the lissencephaly 1 gene (LIS1, <a href="/entry/601545">601545</a>) and the tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon isoform gene (YWHAE, <a href="/entry/605066">605066</a>)<br />
</span>
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
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<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
<h5>
Lissencephaly
- <a href="/phenotypicSeries/PS607432">PS607432</a>
- 16 Entries
</h5>
</div>
</div>
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
<table class="table table-bordered table-condensed table-hover mim-table-padding">
<thead>
<tr>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Location</strong>
</th>
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
<strong>Phenotype</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Inheritance</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />mapping key</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />MIM number</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus<br />MIM number</strong>
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/471?start=-3&limit=10&highlight=471"> 1p34.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618325"> Lissencephaly 9 with complex brainstem malformation </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618325"> 618325 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608271"> MACF1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608271"> 608271 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/814?start=-3&limit=10&highlight=814"> 6q22.31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618873"> Lissencephaly 10 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618873"> 618873 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618865"> CEP85L </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618865"> 618865 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/559?start=-3&limit=10&highlight=559"> 7q22.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/257320"> Lissencephaly 2 (Norman-Roberts type) </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/257320"> 257320 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600514"> RELN </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600514"> 600514 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/584?start=-3&limit=10&highlight=584"> 7q31.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615191"> Lissencephaly 5 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615191"> 615191 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/150240"> LAMB1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/150240"> 150240 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/826?start=-3&limit=10&highlight=826"> 7q36.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616342"> ?Lissencephaly 7 with cerebellar hypoplasia </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616342"> 616342 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/123831"> CDK5 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/123831"> 123831 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/352?start=-3&limit=10&highlight=352"> 12q13.12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611603"> Lissencephaly 3 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611603"> 611603 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602529"> TUBA1A </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602529"> 602529 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/665?start=-3&limit=10&highlight=665"> 12q21.32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617255"> Lissencephaly 8 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617255"> 617255 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617218"> TMTC3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617218"> 617218 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/219?start=-3&limit=10&highlight=219"> 16p13.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614019"> Lissencephaly 4 (with microcephaly) </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614019"> 614019 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609449"> NDE1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609449"> 609449 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/492?start=-3&limit=10&highlight=492"> 16q21 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616212"> Lissencephaly 6, with microcephaly </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616212"> 616212 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602703"> KATNB1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602703"> 602703 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/6?start=-3&limit=10&highlight=6"> 17p13.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/247200"> Miller-Dieker lissencephaly syndrome </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="4 - A contiguous gene duplication or deletion syndrome in which multiple genes are involved"> 4 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/247200"> 247200 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/247200"> MDLS </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/247200"> 247200 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/50?start=-3&limit=10&highlight=50"> 17p13.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607432"> Lissencephaly 1 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607432"> 607432 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601545"> PAFAH1B1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601545"> 601545 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/50?start=-3&limit=10&highlight=50"> 17p13.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607432"> Subcortical laminar heterotopia </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607432"> 607432 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601545"> PAFAH1B1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601545"> 601545 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/132?start=-3&limit=10&highlight=132"> Xp21.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300215"> Lissencephaly, X-linked 2 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked">XL</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300215"> 300215 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300382"> ARX </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300382"> 300382 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/132?start=-3&limit=10&highlight=132"> Xp21.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300215"> Hydranencephaly with abnormal genitalia </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked">XL</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300215"> 300215 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300382"> ARX </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300382"> 300382 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/575?start=-3&limit=10&highlight=575"> Xq23 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300067"> Subcortical laminal heterotopia, X-linked </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked">XL</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300067"> 300067 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300121"> DCX </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300121"> 300121 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/575?start=-3&limit=10&highlight=575"> Xq23 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300067"> Lissencephaly, X-linked </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked">XL</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300067"> 300067 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300121"> DCX </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300121"> 300121 </a>
</span>
</td>
</tr>
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<strong>TEXT</strong>
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</h4>
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<span class="mim-text-font">
<p>A number sign (#) is used with this entry because Miller-Dieker lissencephaly syndrome is a contiguous gene deletion syndrome involving genes on chromosome 17p13.3.</p><p>See also the 17p13.3 duplication syndrome (<a href="/entry/613215">613215</a>), which involves the same chromosomal region.</p>
</span>
<div>
<br />
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<a id="description" class="mim-anchor"></a>
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Description</strong>
</span>
</h4>
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<p>Features of the Miller-Dieker syndrome include classic lissencephaly (pachygyria, incomplete or absent gyration of the cerebrum), microcephaly, wrinkled skin over the glabella and frontal suture, prominent occiput, narrow forehead, downward slanting palpebral fissures, small nose and chin, cardiac malformations, hypoplastic male extrenal genitalia, growth retardation, and mental deficiency with seizures and EEG abnormalities. Life expectancy is grossly reduced, with death most often occurring during early childhood (summary by <a href="#39" class="mim-tip-reference" title="Schinzel, A. &lt;strong&gt;Microdeletion syndromes, balanced translocations, and gene mapping.&lt;/strong&gt; J. Med. Genet. 25: 454-462, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3050093/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3050093&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.25.7.454&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3050093">Schinzel, 1988</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3050093" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Lissencephaly means 'smooth brain,' i.e., brain without convolutions or gyri.</p><p>Deletion of or mutation in the LIS1 gene (PAFAH1B1; <a href="/entry/601545">601545</a>) appears to cause the lissencephaly because point mutations have been identified in this gene in isolated lissencephaly sequence (ILS; see <a href="/entry/607432">607432</a>). Facial dysmorphism and other anomalies in Miller-Dieker patients appear to be the consequence of deletion of additional genes distal to LIS1. <a href="#45" class="mim-tip-reference" title="Toyo-oka, K., Shionoya, A., Gambello, M. J., Cardoso, C., Leventer, R., Ward, H. L., Ayala, R., Tsai, L.-H., Dobyns, W., Ledbetter, D., Hirotsune, S., Wynshaw-Boris, A. &lt;strong&gt;14-3-3-epsilon is important for neuronal migration by binding to NUDEL: a molecular explanation for Miller-Dieker syndrome.&lt;/strong&gt; Nature Genet. 34: 274-285, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12796778/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12796778&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng1169&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12796778">Toyo-oka et al. (2003)</a> presented evidence that the gene whose deletion is responsible for the greater severity of Miller-Dieker syndrome compared to isolated lissencephaly is the gene encoding 14-3-3-epsilon (YWHAE; <a href="/entry/605066">605066</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12796778" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>Clinical Features</strong>
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<p><a href="#31" class="mim-tip-reference" title="Miller, J. Q. &lt;strong&gt;Lissencephaly in 2 siblings.&lt;/strong&gt; Neurology 13: 841-850, 1963.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14066999/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;14066999&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/wnl.13.10.841&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="14066999">Miller (1963)</a> described this condition in a brother and sister who were the fifth and sixth children of unrelated parents. The features were microcephaly, small mandible, bizarre facies, failure to thrive, retarded motor development, dysphagia, decorticate and decerebrate postures, and death at 3 and 4 months, respectively. Autopsy showed anomalies of the brain, kidney, heart, and gastrointestinal tract. The brains were smooth with large ventricles and a histologic architecture more like normal fetal brain of 3 to 4 months' gestation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14066999" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Dieker, H., Edwards, R. H., ZuRhein, G., Chou, S. M., Hartman, H. A., Opitz, J. M. &lt;strong&gt;The lissencephaly syndrome. In: Bergsma, D. (ed.): The Clinical Delineation of Birth Defects: Malformation Syndromes. Vol II.&lt;/strong&gt; New York: National Foundation-March of Dimes (pub.) 1969. Pp. 53-64."None>Dieker et al. (1969)</a> described 2 affected brothers and an affected female maternal first cousin. They also emphasized that this should be termed the lissencephaly syndrome because malformations of the heart, kidneys, and other organs, as well as polydactyly and unusual facial appearance, are associated.</p><p><a href="#38" class="mim-tip-reference" title="Reznik, M., Alberca-Serrano, R. &lt;strong&gt;Forme familiale d&#x27;hypertelorisme avec lissencephalie se presentant cliniquement sous forme d&#x27;une arrieration mentale avec epilepsie et paraplegie spasmodique.&lt;/strong&gt; J. Neurol. Sci. 1: 40-58, 1964.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14174045/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;14174045&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0022-510x(64)90053-x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="14174045">Reznik and Alberca-Serrano (1964)</a> described 2 brothers with congenital hypertelorism, mental defect, intractable epilepsy, progressive spastic paraplegia, and death at ages 19 and 9 years. The mother showed hypertelorism and short-lived epileptiform attacks. Autopsy showed lissencephaly with massive neuronal heterotopia, and large ventricular cavities of embryonic type. (The findings in the mother made X-linked recessive inheritance a possibility.) The patients of <a href="#38" class="mim-tip-reference" title="Reznik, M., Alberca-Serrano, R. &lt;strong&gt;Forme familiale d&#x27;hypertelorisme avec lissencephalie se presentant cliniquement sous forme d&#x27;une arrieration mentale avec epilepsie et paraplegie spasmodique.&lt;/strong&gt; J. Neurol. Sci. 1: 40-58, 1964.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14174045/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;14174045&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0022-510x(64)90053-x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="14174045">Reznik and Alberca-Serrano (1964)</a> may have suffered from a disorder distinct from that described by <a href="#31" class="mim-tip-reference" title="Miller, J. Q. &lt;strong&gt;Lissencephaly in 2 siblings.&lt;/strong&gt; Neurology 13: 841-850, 1963.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14066999/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;14066999&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/wnl.13.10.841&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="14066999">Miller (1963)</a> and <a href="#9" class="mim-tip-reference" title="Dieker, H., Edwards, R. H., ZuRhein, G., Chou, S. M., Hartman, H. A., Opitz, J. M. &lt;strong&gt;The lissencephaly syndrome. In: Bergsma, D. (ed.): The Clinical Delineation of Birth Defects: Malformation Syndromes. Vol II.&lt;/strong&gt; New York: National Foundation-March of Dimes (pub.) 1969. Pp. 53-64."None>Dieker et al. (1969)</a>. All patients with the Miller-Dieker syndrome are severely retarded. None learned to speak. They may walk by 3 to 5 years but spastic diplegia with spastic gait is evident. As in other forms of stationary forebrain developmental anomalies, decerebrate posturing with head retraction emerges in the first year of life. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14174045+14066999" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#13" class="mim-tip-reference" title="Dobyns, W. B., Stratton, R. F., Parke, J. T., Greenberg, F., Nussbaum, R. L., Ledbetter, D. H. &lt;strong&gt;The Miller-Dieker syndrome: lissencephaly and monosomy 17p.&lt;/strong&gt; J. Pediat. 102: 552-558, 1983.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6834189/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6834189&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0022-3476(83)80183-8&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6834189">Dobyns et al. (1983)</a> stated that the most characteristic finding on computerized tomography is complete failure of opercularization of the frontal and temporal lobes, and that this most likely accounts for bitemporal hollowing. (Opercularization is formation of the parts of the lobes that cover part of the insula.) The form of lissencephaly in the Miller-Dieker syndrome was designated classic or type I lissencephaly by <a href="#12" class="mim-tip-reference" title="Dobyns, W. B., Stratton, R. F., Greenberg, F. &lt;strong&gt;Syndromes with lissencephaly. I: Miller-Dieker and Norman-Roberts syndromes and isolated lissencephaly.&lt;/strong&gt; Am. J. Med. Genet. 18: 509-526, 1984.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6476009/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6476009&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320180320&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6476009">Dobyns et al. (1984)</a>. It is characterized by microcephaly and a thickened cortex with 4 rather than 6 layers. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6476009+6834189" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Bordarier, C., Robain, O., Rethore, M.-O., Dulac, O., Dhellemmes, C. &lt;strong&gt;Inverted neurons in agyria: a Golgi study of a case with abnormal chromosome 17.&lt;/strong&gt; Hum. Genet. 73: 374-378, 1986.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3744365/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3744365&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00279105&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3744365">Bordarier et al. (1986)</a> pointed out that agyria was considered a rare malformation until the recent progress in neuroradiology. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3744365" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#41" class="mim-tip-reference" title="Selypes, A., Laszlo, A. &lt;strong&gt;Miller-Dieker syndrome and monosomy 17p13: a new case.&lt;/strong&gt; Hum. Genet. 80: 103-104, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3417298/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3417298&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00451469&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3417298">Selypes and Laszlo (1988)</a> described the Miller-Dieker syndrome in a 12-year-old boy with a de novo terminal deletion of 17p13. He had growth retardation, microcephaly, ptosis of the left eyelid, low-set ears, prominent philtrum, thin upper lip, clinodactyly of the fifth fingers, and atrial septal defect. Lissencephaly was demonstrated by computerized tomography. MDS is a severe neuronal migration abnormality. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3417298" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#14" class="mim-tip-reference" title="Dobyns, W. B., vanTuinen, P., Ledbetter, D. H. &lt;strong&gt;Clinical diagnostic criteria for Miller-Dieker syndrome. (Abstract)&lt;/strong&gt; Am. J. Hum. Genet. 43: A46, 1988."None>Dobyns et al. (1988)</a> found the most consistent features of the facies in MDLS to be bitemporal hollowing, prominent forehead, short nose with upturned nares, prominent upper lip, thin vermilion border of the upper lip, and small jaw. Agenesis of the corpus callosum was demonstrated by computerized tomography in about 90% of cases. The cerebellum was normal in all. Striking midline calcifications were found in most patients with visible chromosomal change.</p><p><a href="#1" class="mim-tip-reference" title="Allanson, J. E., Ledbetter, D. H., Dobyns, W. B. &lt;strong&gt;Classical lissencephaly syndromes: does the face reflect the brain?&lt;/strong&gt; J. Med. Genet. 35: 920-923, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9832039/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9832039&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.35.11.920&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9832039">Allanson et al. (1998)</a> reported pattern profiles on 5 children with MDLS and 25 children and adolescents with isolated lissencephaly sequence. The patients with ILS at all ages showed reduced head circumference and a wide and flat face with a broad nose and widely spaced eyes. In the age group of 6 months to 4 years of age, there was similarity between the pattern profiles of ILS and MDLS, with a correlation coefficient of 0.812 (p less than 0.001). In MDLS there are a few distinguishing features, including brachycephaly, a slightly wider face, and a considerably shorter nose. <a href="#1" class="mim-tip-reference" title="Allanson, J. E., Ledbetter, D. H., Dobyns, W. B. &lt;strong&gt;Classical lissencephaly syndromes: does the face reflect the brain?&lt;/strong&gt; J. Med. Genet. 35: 920-923, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9832039/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9832039&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.35.11.920&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9832039">Allanson et al. (1998)</a> concluded that given the striking similarity of the pattern profiles, the principal diagnostic discriminators are qualitative features, specifically the tall, furrowed forehead and the long, broad thickened upper lip in MDLS. They also concluded that their observations were consistent with the concept of additional gene(s) telomeric to LIS1 contributing to the facial phenotype of MDLS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9832039" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#13" class="mim-tip-reference" title="Dobyns, W. B., Stratton, R. F., Parke, J. T., Greenberg, F., Nussbaum, R. L., Ledbetter, D. H. &lt;strong&gt;The Miller-Dieker syndrome: lissencephaly and monosomy 17p.&lt;/strong&gt; J. Pediat. 102: 552-558, 1983.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6834189/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6834189&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0022-3476(83)80183-8&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6834189">Dobyns et al. (1983)</a> found a ring chromosome 17 in 1 patient and were prompted to study 2 other cases. They found partial monosomy of 17p13 in one of these. A review of the literature uncovered abnormality of 17p in 5 other patients in 3 families. <a href="#42" class="mim-tip-reference" title="Sharief, N., Craze, J., Summers, D., Butler, L., Wood, C. B. S. &lt;strong&gt;Miller-Dieker syndrome with ring chromosome 17.&lt;/strong&gt; Arch. Dis. Child. 66: 710-712, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1711306/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1711306&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/adc.66.6.710&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1711306">Sharief et al. (1991)</a> reported a case of MDS associated with ring chromosome 17. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1711306+6834189" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#24" class="mim-tip-reference" title="Ledbetter, D. H. &lt;strong&gt;Personal Communication.&lt;/strong&gt; Houston, Texas 5/27/1983."None>Ledbetter (1983)</a> studied the parents of the patients reported by <a href="#31" class="mim-tip-reference" title="Miller, J. Q. &lt;strong&gt;Lissencephaly in 2 siblings.&lt;/strong&gt; Neurology 13: 841-850, 1963.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14066999/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;14066999&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/wnl.13.10.841&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="14066999">Miller (1963)</a>, <a href="#9" class="mim-tip-reference" title="Dieker, H., Edwards, R. H., ZuRhein, G., Chou, S. M., Hartman, H. A., Opitz, J. M. &lt;strong&gt;The lissencephaly syndrome. In: Bergsma, D. (ed.): The Clinical Delineation of Birth Defects: Malformation Syndromes. Vol II.&lt;/strong&gt; New York: National Foundation-March of Dimes (pub.) 1969. Pp. 53-64."None>Dieker et al. (1969)</a>, and <a href="#34" class="mim-tip-reference" title="Norman, M. G., Roberts, M., Sirois, J., Tremblay, L. J. M. &lt;strong&gt;Lissencephaly.&lt;/strong&gt; Canad. J. Neurol. Sci. 3: 39-46, 1976.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/175907/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;175907&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1017/s0317167100025981&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="175907">Norman et al. (1976)</a>. The father of Miller's sibs had a 15q;17p translocation; the father of Dieker's patients 1 and 3 had a 12q;17p translocation and both parents of Norman's patient had normal karyotypes. An autosomal recessive form of lissencephaly was suggested also by the parental consanguinity in Norman's case (see LIS2, <a href="/entry/257320">257320</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14066999+175907" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#43" class="mim-tip-reference" title="Stratton, R. F., Dobyns, W. B., Airhart, S. D., Ledbetter, D. H. &lt;strong&gt;New chromosomal syndrome: Miller-Dieker syndrome and monosomy 17p13.&lt;/strong&gt; Hum. Genet. 67: 193-200, 1984.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6745939/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6745939&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00273000&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6745939">Stratton et al. (1984)</a> further narrowed the monosomy to 17p13.3. They also reported prenatal diagnosis. In a patient with MDS and no cytogenetically detectable deletion, <a href="#47" class="mim-tip-reference" title="vanTuinen, P., Ledbetter, D. H. &lt;strong&gt;Construction and utilization of a detailed somatic cell hybrid mapping panel for human chromosome 17: localization of an anonymous clone to the critical region of Miller-Dieker syndrome, deletion 17p13. (Abstract)&lt;/strong&gt; Cytogenet. Cell Genet. 46: 708-709, 1987."None>vanTuinen and Ledbetter (1987)</a> found evidence of deletion by use of a DNA marker located at 17p13.3. <a href="#16" class="mim-tip-reference" title="Greenberg, F., Stratton, R. F., Lockhart, L. H., Elder, F. F. B., Dobyns, W. B., Ledbetter, D. H. &lt;strong&gt;Familial Miller-Dieker syndrome associated with pericentric inversion of chromosome 17.&lt;/strong&gt; Am. J. Med. Genet. 23: 853-859, 1986.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3963054/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3963054&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320230402&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3963054">Greenberg et al. (1986)</a> described a family in which the mother had a pericentric inversion of chromosome 17 and 2 of her children had MDS. One of them was shown to carry a recombinant 17 consisting of dup(17q) and del(17p). The patient described by <a href="#41" class="mim-tip-reference" title="Selypes, A., Laszlo, A. &lt;strong&gt;Miller-Dieker syndrome and monosomy 17p13: a new case.&lt;/strong&gt; Hum. Genet. 80: 103-104, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3417298/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3417298&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00451469&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3417298">Selypes and Laszlo (1988)</a> had a de novo terminal deletion of 17p13. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3963054+3417298+6745939" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Bordarier, C., Robain, O., Rethore, M.-O., Dulac, O., Dhellemmes, C. &lt;strong&gt;Inverted neurons in agyria: a Golgi study of a case with abnormal chromosome 17.&lt;/strong&gt; Hum. Genet. 73: 374-378, 1986.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3744365/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3744365&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00279105&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3744365">Bordarier et al. (1986)</a> reported anatomoclinical observations on a case of partial deletion of 17p. Golgi stains showed many inverted pyramidal cells in the superficial part of the cortex. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3744365" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Dhellemmes, C., Girard, S., Dulac, O., Robain, O., Choiset, A., Tapia, S. &lt;strong&gt;Agyria--pachygyria and Miller-Dieker syndrome: clinical, genetic and chromosome studies.&lt;/strong&gt; Hum. Genet. 79: 163-167, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3391613/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3391613&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00280557&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3391613">Dhellemmes et al. (1988)</a> found a microdeletion of 17p in 1 of 12 cases with lissencephaly. They subscribed to the 4-way classification of lissencephalies proposed by <a href="#12" class="mim-tip-reference" title="Dobyns, W. B., Stratton, R. F., Greenberg, F. &lt;strong&gt;Syndromes with lissencephaly. I: Miller-Dieker and Norman-Roberts syndromes and isolated lissencephaly.&lt;/strong&gt; Am. J. Med. Genet. 18: 509-526, 1984.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6476009/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6476009&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320180320&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6476009">Dobyns et al. (1984)</a>: the Miller-Dieker syndrome with abnormality of chromosome 17; the Miller-Dieker syndrome without evident abnormality of chromosome 17; a disorder with manifestations unlike those of the Miller-Dieker syndrome but with familial occurrence and normal chromosomes (Norman-Roberts syndrome; <a href="/entry/257320">257320</a>); and a form without characteristic facial dysmorphism and without familial occurrence. In the study of <a href="#8" class="mim-tip-reference" title="Dhellemmes, C., Girard, S., Dulac, O., Robain, O., Choiset, A., Tapia, S. &lt;strong&gt;Agyria--pachygyria and Miller-Dieker syndrome: clinical, genetic and chromosome studies.&lt;/strong&gt; Hum. Genet. 79: 163-167, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3391613/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3391613&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00280557&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3391613">Dhellemmes et al. (1988)</a>, 1 patient was in category 1 and the other 11 were in category 4. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3391613+6476009" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="Dobyns, W. B., Curry, C. J. R., Hoyme, H. E., Turlington, L., Ledbetter, D. H. &lt;strong&gt;Clinical and molecular diagnosis of Miller-Dieker syndrome.&lt;/strong&gt; Am. J. Hum. Genet. 48: 584-594, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1671808/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1671808&lt;/a&gt;]" pmid="1671808">Dobyns et al. (1991)</a> reviewed the results of their clinical, cytogenetic, and molecular studies in 27 patients with MDS from 25 families. All had severe type I lissencephaly with grossly normal cerebellum and a distinctive facial appearance consisting of prominent forehead, bitemporal hollowing, short nose with upturned nares, protuberant upper lip, thin vermilion border, and small jaw. Chromosome analysis showed deletion of band 17p13 in 14 of 25 MDS probands. Studies using probes from the 17p13.3 region detected deletions in 19 of 25 probands tested, including 7 in whom chromosome analysis was normal. When the cytogenetic and molecular data were combined, deletions were detected in 21 of 25 probands. Of the 11 patients in whom parental origin of the de novo deletion was determined, paternal origin was demonstrated in 7 and maternal origin in 4. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1671808" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="De Rijk-van Andel, J. F., Catsman-Berrevoets, C. E., Halley, D. J. J., Wesby-van Swaay, E., Niermeijer, M. F., Oostra, B. A. &lt;strong&gt;Isolated lissencephaly sequence associated with a microdeletion at chromosome 17p13.&lt;/strong&gt; Hum. Genet. 87: 509-510, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1879837/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1879837&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00197179&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1879837">De Rijk-van Andel et al. (1991)</a> identified a submicroscopic deletion of 2 DNA markers located at 17p13 in a patient with isolated grade 3 lissencephaly. The findings suggested that MDS and isolated lissencephaly have a common etiology. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1879837" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>About 90% of MDS patients have visible or submicroscopic deletions of 17p13.3; <a href="#27" class="mim-tip-reference" title="Ledbetter, S. A., Kuwano, A., Dobyns, W. B., Ledbetter, D. H. &lt;strong&gt;Microdeletions of chromosome 17p13 as a cause of isolated lissencephaly.&lt;/strong&gt; Am. J. Hum. Genet. 50: 182-189, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1346078/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1346078&lt;/a&gt;]" pmid="1346078">Ledbetter et al. (1992)</a> investigated the possibility that some patients with 'isolated lissencephaly sequence' (ILS) had smaller deletions in that chromosomal region. Their studies uncovered 6 submicroscopic deletions in 45 ILS patients with gyral abnormalities ranging from complete agyria to mixed agyria/pachygyria and complete pachygyria. In situ hybridization proved to be the most rapid and sensitive method of deletion detection. The centromeric boundary of these deletions overlapped that of MDS patients, while the telomeric boundary for 4 of them was proximal to that of MDS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1346078" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#35" class="mim-tip-reference" title="Oostra, B. A., de Rijk-van Andel, J. F., Eussen, H. J., van Hemel, J. O., Halley, D. J. J., Niermeijer, M. F. &lt;strong&gt;DNA analysis in patients with lissencephaly type I and other cortical dysplasias.&lt;/strong&gt; Am. J. Med. Genet. 40: 383-386, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1951447/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1951447&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320400328&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1951447">Oostra et al. (1991)</a> studied 5 patients with MDS, 17 patients with isolated lissencephaly sequence, 1 patient with an unclassified form of lissencephaly, and 9 patients with an atypical cortical dysplasia. All patients had normal chromosomes except for a deletion of 17p13.3 in 1 of the 5 MDS patients. The 5 MDS patients showed deletion of markers YNZ22.1 and YNH37.3. <a href="#11" class="mim-tip-reference" title="Dobyns, W. B., Reiner, O., Carrozzo, R., Ledbetter, D. H. &lt;strong&gt;Lissencephaly: a human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13.&lt;/strong&gt; JAMA 270: 2838-2842, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7907669/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7907669&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/jama.270.23.2838&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7907669">Dobyns et al. (1993)</a> reviewed the clinical phenotype, pathologic changes, and results of cytogenetic and molecular genetic studies in 90 probands with lissencephaly, with emphasis on patients with the classic form (type I). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7907669+1951447" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>A cryptic translocation in one of the parents of MDS patients had been found using fluorescence in situ hybridization (FISH) (<a href="#22" class="mim-tip-reference" title="Kuwano, A., Ledbetter, S. A., Dobyns, W. B., Emanuel, B. S., Ledbetter, D. H. &lt;strong&gt;Detection of deletions and cryptic translocations in Miller-Dieker syndrome by in situ hybridization.&lt;/strong&gt; Am. J. Hum. Genet. 49: 707-714, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1897521/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1897521&lt;/a&gt;]" pmid="1897521">Kuwano et al., 1991</a>). <a href="#28" class="mim-tip-reference" title="Masuno, M., Imaizumi, K., Nakamura, M., Matsui, K., Goto, A., Kuroki, Y. &lt;strong&gt;Miller-Dieker syndrome due to maternal cryptic translocation t(10;17)(q26.3;p13.3).&lt;/strong&gt; Am. J. Med. Genet. 59: 441-443, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8585563/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8585563&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320590409&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8585563">Masuno et al. (1995)</a> described a patient with MDS and a maternal cryptic translocation. <a href="#20" class="mim-tip-reference" title="Kingston, H. M., Ledbetter, D. H., Tomlin, P. I., Gaunt, K. L. &lt;strong&gt;Miller-Dieker syndrome resulting from rearrangement of a familial chromosome 17 inversion detected by fluorescence in situ hybridisation.&lt;/strong&gt; J. Med. Genet. 33: 69-72, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8825053/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8825053&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.33.1.69&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8825053">Kingston et al. (1996)</a> described a boy who, in addition to lissencephaly and facial features of MDS, had rhizomelic shortening of the limbs, cleft palate, hypospadias, and sacral tail. Banded chromosome analysis did not reveal any abnormality of chromosome 17. FISH studies with the alpha satellite probe D17Z1 and 3 overlapping cosmids from the MDS critical region showed that his mother and grandmother carried a balanced inv(17)(p13.3q25.1). The proband's karyotype was 46,XY,rec(17),dup q,inv(17)(p13.3q25.1)mat. Additional manifestations in the proband were due to distal 17q trisomy. <a href="#28" class="mim-tip-reference" title="Masuno, M., Imaizumi, K., Nakamura, M., Matsui, K., Goto, A., Kuroki, Y. &lt;strong&gt;Miller-Dieker syndrome due to maternal cryptic translocation t(10;17)(q26.3;p13.3).&lt;/strong&gt; Am. J. Med. Genet. 59: 441-443, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8585563/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8585563&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320590409&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8585563">Masuno et al. (1995)</a> and <a href="#20" class="mim-tip-reference" title="Kingston, H. M., Ledbetter, D. H., Tomlin, P. I., Gaunt, K. L. &lt;strong&gt;Miller-Dieker syndrome resulting from rearrangement of a familial chromosome 17 inversion detected by fluorescence in situ hybridisation.&lt;/strong&gt; J. Med. Genet. 33: 69-72, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8825053/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8825053&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.33.1.69&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8825053">Kingston et al. (1996)</a> stated that FISH analysis is crucial to exclude subtle rearrangements in affected children and their parents. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8825053+1897521+8585563" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#29" class="mim-tip-reference" title="McKusick, V. A. &lt;strong&gt;Personal Communication.&lt;/strong&gt; Baltimore, Md. 1996."None>McKusick (1996)</a> noted that this disorder was originally classified as an autosomal recessive disorder in Mendelian Inheritance in Man; it was later found that both isolated lissencephaly sequence and the Miller-Dieker syndrome are due to haploinsufficiency of one or more genes on 17p and are autosomal dominant disorders.</p>
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<p><a href="#46" class="mim-tip-reference" title="vanTuinen, P., Dobyns, W. B., Rich, D. C., Summers, K. M., Robinson, T. J., Nakamura, Y., Ledbetter, D. H. &lt;strong&gt;Molecular detection of microscopic and submicroscopic deletions associated with Miller-Dieker syndrome.&lt;/strong&gt; Am. J. Hum. Genet. 43: 587-596, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3189330/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3189330&lt;/a&gt;]" pmid="3189330">VanTuinen et al. (1988)</a> found that the genes for myosin heavy chain-2 (<a href="/entry/160740">160740</a>), tumor antigen p53, and RNA polymerase II (<a href="/entry/180660">180660</a>), previously mapped to 17p, are not included in the MDS deletion region and therefore are unlikely to play a role in its pathogenesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3189330" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="molecularGenetics" class="mim-anchor"></a>
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<p><a href="#25" class="mim-tip-reference" title="Ledbetter, D. H., Ledbetter, S. A., vanTuinen, P., Summers, K. M., Nakamura, Y. &lt;strong&gt;Two VNTR probes reveal HTF islands and conserved sequences in a microdeletion syndrome. (Abstract)&lt;/strong&gt; Am. J. Hum. Genet. 43: A111, 1988."None>Ledbetter et al. (1988)</a> described 2 variable number tandem repeat (VNTR) probes that revealed a 15-kb region containing HTF islands that are likely to be markers of expressed sequences. Use of these probes showed homology to chromosome 11 in the mouse. Because of the close location of MDCR to tumor antigen p53 (TP53; <a href="/entry/191170">191170</a>) and MYHSA1 (<a href="/entry/160730">160730</a>) in man, the homologous locus in the mouse is probably close to the corresponding loci in that species. Several neurologic mutants in the mouse map to that region.</p><p>In 2 MDS patients with normal chromosomes, a combination of somatic cell hybrid, RFLP, and densitometric studies demonstrated deletion of polymorphic anonymous probes in the paternally derived chromosome 17 (<a href="#46" class="mim-tip-reference" title="vanTuinen, P., Dobyns, W. B., Rich, D. C., Summers, K. M., Robinson, T. J., Nakamura, Y., Ledbetter, D. H. &lt;strong&gt;Molecular detection of microscopic and submicroscopic deletions associated with Miller-Dieker syndrome.&lt;/strong&gt; Am. J. Hum. Genet. 43: 587-596, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3189330/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3189330&lt;/a&gt;]" pmid="3189330">VanTuinen et al., 1988</a>). This demonstration of submicroscopic deletion suggests that all MDS patients may have deletions at the molecular level. In an addendum, the authors stated that 3 additional MDS patients without cytogenetically detectable deletions had been found to have molecular deletions and that 'to date' 13 of 13 MDS patients had molecular deletions. Using anonymous probes, <a href="#40" class="mim-tip-reference" title="Schwartz, C. E., Johnson, J. P., Holycross, B., Mandeville, T. M., Sears, T. S., Graul, E. A., Carey, J. C., Schroer, R. J., Phelan, M. C., Szollar, J., Flannery, D. B., Stevenson, R. E. &lt;strong&gt;Detection of submicroscopic deletions in band 17p13 in patients with the Miller-Dieker syndrome.&lt;/strong&gt; Am. J. Hum. Genet. 43: 597-604, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2903661/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2903661&lt;/a&gt;]" pmid="2903661">Schwartz et al. (1988)</a> likewise found molecular deletions in 3 MDS patients, 2 of whom had no visible abnormalities of chromosome 17. None of the 3 RFLP loci studied was absent in a case of lissencephaly without MDS. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3189330+2903661" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#26" class="mim-tip-reference" title="Ledbetter, D. H., Ledbetter, S. A., vanTuinen, P., Summers, K. M., Robinson, T. J., Nakamura, Y., Wolff, R., White, R., Barker, D. F., Wallace, M. R., Collins, F. S., Dobyns, W. B. &lt;strong&gt;Molecular dissection of a contiguous gene syndrome: frequent submicroscopic deletions, evolutionarily conserved sequences, and a hypomethylated &#x27;island&#x27; in the Miller-Dieker chromosome region.&lt;/strong&gt; Proc. Nat. Acad. Sci. 86: 5136-5140, 1989.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2740347/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2740347&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1073/pnas.86.13.5136&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2740347">Ledbetter et al. (1989)</a> found that in all of 7 patients 3 overlapping cosmids spanning more than 100 kb were completely deleted, thus providing a minimum estimate of the size of the MDS critical region. A hypomethylated island and evolutionarily conserved sequences were identified within this 100-kb region--indications of the presence of one or more expressed sequences potentially involved in the pathophysiology of this disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2740347" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#37" class="mim-tip-reference" title="Reiner, O., Carrozzo, R., Shen, Y., Wehnert, M., Faustinella, F., Dobyns, W. B., Caskey, C. T., Ledbetter, D. H. &lt;strong&gt;Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats.&lt;/strong&gt; Nature 364: 717-721, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8355785/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8355785&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/364717a0&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8355785">Reiner et al. (1993)</a> cloned a gene called LIS1 (lissencephaly-1) in 17p13.3 that is deleted in Miller-Dieker patients. Nonoverlapping deletions involving either the 5-prime or the 3-prime end of the gene were found in 2 patients, identifying LIS1 as the disease gene. The deduced amino acid sequence showed significant homology to beta subunits of heterotrimeric G proteins, suggesting that it may be involved in a signal transduction pathway crucial for cerebral development. Since haploinsufficiency appears to lead to the syndrome, half the normal dosage of the gene product is apparently inadequate for normal development. It may be that improper proportions of beta and gamma subunits of a G protein disturb formation of the normal protein complex, as in hemoglobin H disease, which is caused by an imbalance in the ratio of alpha- to beta-globin. About 15% of patients with isolated lissencephaly and more than 90% of patients with Miller-Dieker syndrome have microdeletions in a critical 350-kb region of 17p13.3. Genotype/phenotype studies are necessary to explain the phenotypic differences. <a href="#33" class="mim-tip-reference" title="Neer, E. J., Schmidt, C. J., Smith, T. &lt;strong&gt;LIS is more.&lt;/strong&gt; Nature Genet. 5: 3-4, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8220419/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8220419&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng0993-3&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8220419">Neer et al. (1993)</a> commented on the nature of the newly found gene and the usefulness of identifying families of genes and the proteins they encode. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8355785+8220419" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Platelet-activating factor (PAF) is involved in a variety of biologic and pathologic processes (<a href="#17" class="mim-tip-reference" title="Hanahan, D. J. A. &lt;strong&gt;Platelet activating factor: a biologically active phosphoglyceride.&lt;/strong&gt; Annu. Rev. Biochem. 55: 483-509, 1986.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3017194/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3017194&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1146/annurev.bi.55.070186.002411&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3017194">Hanahan, 1986</a>). PAF acetylhydrolase, which inactivates PAF by removing the acetyl group at the sn-2 position, is widely distributed in plasma and tissue cytosols. One isoform of PAF acetylhydrolase present in bovine brain cortex is a heterotrimer comprising subunits with relative molecular masses of 45, 30, and 29 kD (<a href="#19" class="mim-tip-reference" title="Hattori, M., Arai, H., Inoue, K. &lt;strong&gt;Purification and characterization of bovine brain platelet-activating factor acetylhydrolase.&lt;/strong&gt; J. Biol. Chem. 268: 18748-18753, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8360169/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8360169&lt;/a&gt;]" pmid="8360169">Hattori et al., 1993</a>). <a href="#18" class="mim-tip-reference" title="Hattori, M., Adachi, H., Tsujimoto, M., Arai, H., Inoue, K. &lt;strong&gt;Miller-Dieker lissencephaly gene encodes a subunit of brain platelet-activating factor acetylhydrolase.&lt;/strong&gt; Nature 370: 216-218, 1994. Note: Erratum: Nature 370: 391 only, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8028668/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8028668&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/370216a0&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8028668">Hattori et al. (1994)</a> isolated the cDNA for the 45-kD subunit. Sequence analysis revealed 99% identity with the LIS1 gene, indicating that the LIS1 gene product is a human homolog of the 45-kD subunit of intracellular PAF acetylhydrolase. The results raised the possibility that PAF and PAF acetylhydrolase are important in the formation of the brain cortex during differentiation and development. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8360169+8028668+3017194" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#21" class="mim-tip-reference" title="Kohler, A., Hain, J., Muller, U. &lt;strong&gt;Clinical and molecular genetic findings in five patients with Miller-Dieker syndrome.&lt;/strong&gt; Clin. Genet. 47: 161-164, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7634541/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7634541&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1995.tb03951.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7634541">Kohler et al. (1995)</a> searched for microdeletions in 17p13.3 in 5 patients with lissencephaly-1, typical features of Miller-Dieker syndrome and apparently normal karyotypes. Analysis of loci D17S5 and D17S379 by PCR and FISH revealed a deletion in 3 of the 5 cases. No deletion was observed in the other 2. Given the almost identical clinical picture of the 5 patients, the great variation in the molecular findings argued against Miller-Dieker syndrome being a contiguous gene syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7634541" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Chong, S. S., Lo Nigro, C., Roschke, A. V., Tanigami, A., Pack, S. D., Smith, A. C. M., Carrozzo, R., Dobyns, W. B., Ledbetter, D. H. &lt;strong&gt;Point mutations and an intragenic deletion in three ILS patients confirm LIS1 as the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome. (Abstract)&lt;/strong&gt; Am. J. Hum. Genet. 59 (suppl.): A23 only, 1996."None>Chong et al. (1996)</a> characterized the LIS1 gene (PAFAB1B1; <a href="/entry/601545">601545</a>), demonstrating the presence of 11 exons. SSCP analysis of individual exons was performed on 18 patients with isolated lissencephaly sequence (ILS; see <a href="/entry/607432">607432</a>) who showed no deletions detectable by FISH. In 3 of these patients, point mutations were identified: a missense mutation, a nonsense mutation, and a 22-bp deletion at the exon 9-intron 9 junction predicted to result in a splicing error. The findings confirmed the view that mutations of LIS1 are the cause of the lissencephaly phenotype in ILS and in the Miller-Dieker syndrome. Together with the results of deletion analysis for other ILS and Miller-Dieker syndrome patients, these data are also consistent with the previous suggestion that additional genes distal to LIS1 are responsible for the facial dysmorphism and other anomalies in MDS patients.</p><p><a href="#5" class="mim-tip-reference" title="Cardoso, C., Leventer, R. J., Ward, H. L., Toyo-oka, K., Chung, J., Gross, A., Martin, C. L., Allanson, J., Pilz, D. T., Olney, A. H., Mutchinick, O. M., Hirotsune, S., Wynshaw-Boris, A., Dobyns, W. B., Ledbetter, D. H. &lt;strong&gt;Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3.&lt;/strong&gt; Am. J. Hum. Genet. 72: 918-930, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12621583/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12621583&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=12621583[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/374320&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12621583">Cardoso et al. (2003)</a> completed a physical and transcriptional map of the chromosome 17p13.3 region from LIS1 to the telomere. Using FISH, <a href="#5" class="mim-tip-reference" title="Cardoso, C., Leventer, R. J., Ward, H. L., Toyo-oka, K., Chung, J., Gross, A., Martin, C. L., Allanson, J., Pilz, D. T., Olney, A. H., Mutchinick, O. M., Hirotsune, S., Wynshaw-Boris, A., Dobyns, W. B., Ledbetter, D. H. &lt;strong&gt;Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3.&lt;/strong&gt; Am. J. Hum. Genet. 72: 918-930, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12621583/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12621583&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=12621583[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/374320&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12621583">Cardoso et al. (2003)</a> mapped the deletion size in 19 children with ILS (<a href="/entry/607432">607432</a>), 11 children with MDS, and 4 children with 17p13.3 deletions not involving LIS1. <a href="#5" class="mim-tip-reference" title="Cardoso, C., Leventer, R. J., Ward, H. L., Toyo-oka, K., Chung, J., Gross, A., Martin, C. L., Allanson, J., Pilz, D. T., Olney, A. H., Mutchinick, O. M., Hirotsune, S., Wynshaw-Boris, A., Dobyns, W. B., Ledbetter, D. H. &lt;strong&gt;Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3.&lt;/strong&gt; Am. J. Hum. Genet. 72: 918-930, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12621583/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12621583&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=12621583[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/374320&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12621583">Cardoso et al. (2003)</a> showed that the critical region that differentiates ILS from MDS at the molecular level can be reduced to 400 kb. Using somatic cell hybrids from selected patients, <a href="#5" class="mim-tip-reference" title="Cardoso, C., Leventer, R. J., Ward, H. L., Toyo-oka, K., Chung, J., Gross, A., Martin, C. L., Allanson, J., Pilz, D. T., Olney, A. H., Mutchinick, O. M., Hirotsune, S., Wynshaw-Boris, A., Dobyns, W. B., Ledbetter, D. H. &lt;strong&gt;Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3.&lt;/strong&gt; Am. J. Hum. Genet. 72: 918-930, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12621583/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12621583&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=12621583[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/374320&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12621583">Cardoso et al. (2003)</a> identified 8 genes consistently deleted in patients classified as having MDS: PRP8 (<a href="/entry/607300">607300</a>), RILP (<a href="/entry/607848">607848</a>), SREC (SCARF1; <a href="/entry/607873">607873</a>), PITPNA (<a href="/entry/600174">600174</a>), SKIP (INPP5K; <a href="/entry/607875">607875</a>), MYO1C (<a href="/entry/606538">606538</a>), CRK (<a href="/entry/164762">164762</a>), and 14-3-3-epsilon (YWHAE; <a href="/entry/605066">605066</a>). These genes defined the telomeric MDS critical region, which contains additional genes distal to LIS1 that are responsible for the clinical features that distinguish MDS from ILS. In addition, deletion of the CRK and YWHAE genes delineated patients with the most severe lissencephaly grade. Deletion of the ABR gene (<a href="/entry/600365">600365</a>), which is outside the MDS critical region, was associated with no apparent phenotype. On the basis of recent functional data and the creation of a mouse model suggesting a role for YWHAE in cortical development, <a href="#5" class="mim-tip-reference" title="Cardoso, C., Leventer, R. J., Ward, H. L., Toyo-oka, K., Chung, J., Gross, A., Martin, C. L., Allanson, J., Pilz, D. T., Olney, A. H., Mutchinick, O. M., Hirotsune, S., Wynshaw-Boris, A., Dobyns, W. B., Ledbetter, D. H. &lt;strong&gt;Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3.&lt;/strong&gt; Am. J. Hum. Genet. 72: 918-930, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12621583/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12621583&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=12621583[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/374320&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12621583">Cardoso et al. (2003)</a> suggested that deletion of 1 or both of these genes in combination with deletion of LIS1 may contribute to the more severe form of lissencephaly seen only in patients with Miller-Dieker syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12621583" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Chromosome 17p13.3 Deletion Syndrome</em></strong></p><p>
<a href="#32" class="mim-tip-reference" title="Nagamani, S. C. S., Zhang, F., Shchelochkov, O. A., Bi, W., Ou, Z., Scaglia, F., Probst, F. J., Shinawi, M., Eng, C., Hunter, J. V., Sparagana, S., Lagoe, E., and 13 others. &lt;strong&gt;Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment.&lt;/strong&gt; J. Med. Genet. 46: 825-833, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19584063/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;19584063&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.2009.067637&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="19584063">Nagamani et al. (2009)</a> reported 5 patients with 17q13.3 deletions involving YWHAE but not PAFAH1B1, 2 with deletion including PAFAH1B1 but not YWHAE, and 1 with deletion of YWHAE and mosaic for deletion of PAFAH1B1. Three deletions were terminal, and 5 were interstitial; all were de novo. Patients with deletions including YWHAE but not PAFAH1B1 had significant growth restriction, cognitive impairment, and shared craniofacial features, including tall vertex, prominent forehead, broad nasal root, and epicanthal folds. Brain imaging was abnormal in all but 1 individual. The most common brain imaging abnormalities included prominent Virchow-Robin spaces, periventricular and white matter signals, Chiari I malformation, and abnormal corpus callosum. Patients with deletions including PAFAH1B1 but not YWHAE presented with seizures, significant developmental delay, and classic lissencephaly. Growth restriction was not observed in 1 patient with deletion of YWHAE, suggesting that another gene, perhaps CRK, may be involved in growth regulation. The interstitial genomic rearrangements were likely generated by diverse mechanisms. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19584063" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#30" class="mim-tip-reference" title="Mignon-Ravix, C., Cacciagli, P., El-Waly, B., Mencla, A., Milh, M., Girard, N., Chabrol, B., Philip, N., Villard, L. &lt;strong&gt;Deletion of YWHAE in a patient with periventricular heterotopias and pronounced corpus callosum hypoplasia.&lt;/strong&gt; J. Med. Genet. 47: 132-136, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19635726/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;19635726&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.2009.069112&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="19635726">Mignon-Ravix et al. (2009)</a> reported a patient with developmental delay and facial dysmorphism who was found to have a heterozygous deletion of 394 to 411 kb on chromosome 17p13.3. The mother did not carry the deletion, and the father was not available for study. At age 3 years 7 months, the boy had macrocephaly and facial anomalies reminiscent of MDS, including high forehead with bitemporal hollowing, hypertelorism, epicanthus, downslanting palpebral fissures, anteverted nares, pronounced cupid bow, and small low-set posteriorly rotated ears with irregular helices. Brain MRI showed pronounced hypoplasia of the corpus callosum with posterior agenesis and ependymal and periventricular nodular heterotopias, mostly in the occipital areas. Anterior regions displayed malformation of cortical development with polymicrogyric like appearance of the frontal lobes associated with foci of pachygyria and subcortical heterotopias. The deleted region contained 5 genes: TIMM22 (<a href="/entry/607251">607251</a>), ABR, BHLHA9 (<a href="/entry/615416">615416</a>), TUSC5 (<a href="/entry/612211">612211</a>) and YWHAE, but only haploinsufficiency of YWHAE was considered to be pathogenic. The phenotype was similar to that described in heterozygous Ywhae-deficient mice (see <a href="#45" class="mim-tip-reference" title="Toyo-oka, K., Shionoya, A., Gambello, M. J., Cardoso, C., Leventer, R., Ward, H. L., Ayala, R., Tsai, L.-H., Dobyns, W., Ledbetter, D., Hirotsune, S., Wynshaw-Boris, A. &lt;strong&gt;14-3-3-epsilon is important for neuronal migration by binding to NUDEL: a molecular explanation for Miller-Dieker syndrome.&lt;/strong&gt; Nature Genet. 34: 274-285, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12796778/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12796778&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng1169&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12796778">Toyo-oka et al., 2003</a>). The facial features in this patient also suggested that genes located in this region could contribute to the facial phenotype of MDS. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12796778+19635726" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Bruno, D. L., Anderlid, B.-M., Lindstrand, A., van Ravenswaaij-Arts, C., Ganesamoorthy, D., Lundin, J., Martin, C. L., Douglas, J., Nowak, C., Adam, M. P., Kooy, R. F., Van der Aa, N., and 17 others. &lt;strong&gt;Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes.&lt;/strong&gt; J. Med. Genet. 47: 299-311, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20452996/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;20452996&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.2009.069906&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="20452996">Bruno et al. (2010)</a> identified 8 unrelated individuals with microdeletions at chromosome 17p13.3. One patient had a complex deletion and duplication. All except 1 were de novo and included the YWHAE gene, which was found in an affected sib and a less severely affected mother. The smallest deletion was 328 kb in size, and all breakpoints were distinct. In a comparison with previous studies (<a href="#30" class="mim-tip-reference" title="Mignon-Ravix, C., Cacciagli, P., El-Waly, B., Mencla, A., Milh, M., Girard, N., Chabrol, B., Philip, N., Villard, L. &lt;strong&gt;Deletion of YWHAE in a patient with periventricular heterotopias and pronounced corpus callosum hypoplasia.&lt;/strong&gt; J. Med. Genet. 47: 132-136, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19635726/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;19635726&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.2009.069112&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="19635726">Mignon-Ravix et al., 2009</a> and <a href="#32" class="mim-tip-reference" title="Nagamani, S. C. S., Zhang, F., Shchelochkov, O. A., Bi, W., Ou, Z., Scaglia, F., Probst, F. J., Shinawi, M., Eng, C., Hunter, J. V., Sparagana, S., Lagoe, E., and 13 others. &lt;strong&gt;Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment.&lt;/strong&gt; J. Med. Genet. 46: 825-833, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19584063/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;19584063&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.2009.067637&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="19584063">Nagamani et al., 2009</a>), <a href="#4" class="mim-tip-reference" title="Bruno, D. L., Anderlid, B.-M., Lindstrand, A., van Ravenswaaij-Arts, C., Ganesamoorthy, D., Lundin, J., Martin, C. L., Douglas, J., Nowak, C., Adam, M. P., Kooy, R. F., Van der Aa, N., and 17 others. &lt;strong&gt;Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes.&lt;/strong&gt; J. Med. Genet. 47: 299-311, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20452996/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;20452996&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.2009.069906&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="20452996">Bruno et al. (2010)</a> determined that the delineated critical region spanned approximately 258 kb and included 6 genes: TUSC5, YWHAE, CRK, MYO1C, SKIP and part of PITPNA. YWHAE was considered to play a large role in the phenotype, and CRK was the likely candidate for growth restriction. The variable phenotype included postnatal growth retardation and mild facial features such as laterally extended eyebrows, infraorbital folds, broad nasal tip, maxillary prominence and prominent upper and/or lower lip. The 2 affected sibs had developmental delay, but their mother who had the deletion had normal cognition; facial features in this family were minimal. Brain MRI performed in 5 individuals showed no evidence of lissencephaly, but showed mild structural anomalies in the white matter. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=20452996+19635726+19584063" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="diagnosis" class="mim-anchor"></a>
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<p>For rapid diagnosis, <a href="#2" class="mim-tip-reference" title="Batanian, J. R., Ledbetter, S. A., Wolff, R. K., Nakamura, Y., White, R., Dobyns, W. B., Ledbetter, D. H. &lt;strong&gt;Rapid diagnosis of Miller- Dieker syndrome and isolated lissencephaly sequence by the polymerase chain reaction.&lt;/strong&gt; Hum. Genet. 85: 555-559, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2227942/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2227942&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00194237&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2227942">Batanian et al. (1990)</a> used PCR in connection with probe YNZ22 (D17S5), a highly polymorphic, variable number tandem repeat (VNTR) marker previously shown to be deleted in all patients with MDS, but not in patients with isolated lissencephaly sequence. Analysis of 118 normal persons revealed 12 alleles (differing in copy number of a 70-bp repeat unit) ranging in size from 168 to 938 bp. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2227942" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#36" class="mim-tip-reference" title="Pollin, T. I., Dobyns, W. B., Crowe, C. A., Ledbetter, D. H., Bailey-Wilson, J. E., Smith, A. C. M. &lt;strong&gt;Risk of abnormal pregnancy outcome in carriers of balanced reciprocal translocations involving the Miller-Dieker syndrome (MDS) critical region in chromosome 17p13.3.&lt;/strong&gt; Am. J. Med. Genet. 85: 369-375, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10398263/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10398263&lt;/a&gt;]" pmid="10398263">Pollin et al. (1999)</a> evaluated the risk of abnormal pregnancy outcome in carriers of balanced reciprocal translocations involving the MDS critical region in 17p13.3. Fourteen families were ascertained on the basis of an affected index case. In these 14 families, 38 balanced translocation carriers had 127 pregnancies, corrected for ascertainment bias by the exclusion of all index cases and carriers in the line of descent to the index cases. An abnormal phenotype, an unbalanced chromosome constitution, or both, were found in 33 of the 127 (26%) pregnancies: 15 of 127 (12%) had MDS and an unbalanced karyotype with del(17p); 9 of 127 (7%) had a less severe phenotype with dup(17p); and 9 were unstudied, although MDS with der(17) was usually suspected based on early death and multiple congenital anomalies. When unexplained pregnancy losses, including miscarriages and stillbirths, were excluded from the total, 33 of 99 (33%) pregnancies were phenotypically or genotypically abnormal. The overall risk of abnormal pregnancy outcome of 26% was in the upper range of the reported risk for unbalanced offspring of carrier parents ascertained through liveborn aneuploid offspring. The risk increased to 33% when unexplained pregnancy losses were excluded from the total. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10398263" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>Animal Model</strong>
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<p>The condition of so-called inverted pyramids is observed in the 'reeler' mutation in mice (<a href="#23" class="mim-tip-reference" title="Landrieu, P., Goffinet, A. &lt;strong&gt;Inverted pyramidal neurons and their axons in the neocortex of reeler mutant mice.&lt;/strong&gt; Cell Tissue Res. 218: 293-301, 1981.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6167365/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6167365&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00210345&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6167365">Landrieu and Goffinet, 1981</a>). The 'reeler' mutation (re) is located on mouse chromosome 5, a chromosome that carries no gene known thus far to be homologous to a gene on human chromosome 17. Thus, there is no support from homology of synteny for the notion that agyria in man is the same as 'reeler' in the mouse. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6167365" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>The conserved sequences identified by <a href="#26" class="mim-tip-reference" title="Ledbetter, D. H., Ledbetter, S. A., vanTuinen, P., Summers, K. M., Robinson, T. J., Nakamura, Y., Wolff, R., White, R., Barker, D. F., Wallace, M. R., Collins, F. S., Dobyns, W. B. &lt;strong&gt;Molecular dissection of a contiguous gene syndrome: frequent submicroscopic deletions, evolutionarily conserved sequences, and a hypomethylated &#x27;island&#x27; in the Miller-Dieker chromosome region.&lt;/strong&gt; Proc. Nat. Acad. Sci. 86: 5136-5140, 1989.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2740347/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2740347&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1073/pnas.86.13.5136&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2740347">Ledbetter et al. (1989)</a> were mapped to mouse chromosome 11 by using mouse-rat somatic cell hybrids, thus extending the remarkable homology between human chromosome 17 and mouse chromosome 11 by 30 cM, into the 17p telomere region. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2740347" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#48" class="mim-tip-reference" title="Yingling, J., Toyo-oka, K., Wynshaw-Boris, A. &lt;strong&gt;Miller-Dieker syndrome: analysis of a human contiguous gene syndrome in the mouse.&lt;/strong&gt; Am. J. Hum. Genet. 73: 475-488, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12905154/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12905154&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/378096&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12905154">Yingling et al. (2003)</a> discussed the prospects of using the mouse to model Miller-Dieker syndrome. Null and conditional knockout alleles in the mouse had been generated for Lis1 and Mnt (<a href="/entry/603039">603039</a>), and null alleles had been produced for Hic1 (<a href="/entry/603825">603825</a>) and 14-3-3-epsilon. For Lis1 and Pitpna (<a href="/entry/600174">600174</a>), hypomorphic alleles also existed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12905154" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#44" class="mim-tip-reference" title="Toyo-oka, K., Hirotsune, S., Gambello, M. J., Zhou, Z.-Q., Olson, L., Rosenfeld, M. G., Eisenman, R., Hurlin, P., Wynshaw-Boris, A. &lt;strong&gt;Loss of the Max-interacting protein Mnt in mice results in decreased viability, defective embryonic growth and craniofacial defects: relevance to Miller-Dieker syndrome.&lt;/strong&gt; Hum. Molec. Genet. 13: 1057-1067, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15028671/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15028671&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/ddh116&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="15028671">Toyo-oka et al. (2004)</a> produced knockout mice for Mnt. Virtually all homozygote mutants in a mixed (129S6 x NIH Black Swiss) or inbred (129S6) genetic background died perinatally. Mnt-deficient embryos exhibited small size throughout development and showed reduced levels of c-Myc (<a href="/entry/190080">190080</a>) and N-Myc (<a href="/entry/164840">164840</a>). In addition, 37% of mixed-background mutants displayed cleft palate as well as retardation of skull development, a phenotype not observed in the inbred mutants. The authors proposed an important role for Mnt in embryonic development and survival, and suggested that Mnt may play a role in the craniofacial defects displayed by MDLS patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15028671" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="seeAlso" class="mim-anchor"></a>
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<strong>See Also:</strong>
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<a href="#Garcia1978" class="mim-tip-reference" title="Garcia, C. A., Dunn, D., Trevor, R. &lt;strong&gt;The lissencephaly (agyria) syndrome in siblings: computerized tomographic and neuropathologic findings.&lt;/strong&gt; Arch. Neurol. 35: 606-611, 1978.">Garcia et al. (1978)</a>
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<a id="references"class="mim-anchor"></a>
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<strong>REFERENCES</strong>
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<a id="1" class="mim-anchor"></a>
<a id="Allanson1998" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Allanson, J. E., Ledbetter, D. H., Dobyns, W. B.
<strong>Classical lissencephaly syndromes: does the face reflect the brain?</strong>
J. Med. Genet. 35: 920-923, 1998.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9832039/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9832039</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9832039" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1136/jmg.35.11.920" target="_blank">Full Text</a>]
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<a id="2" class="mim-anchor"></a>
<a id="Batanian1990" class="mim-anchor"></a>
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<p class="mim-text-font">
Batanian, J. R., Ledbetter, S. A., Wolff, R. K., Nakamura, Y., White, R., Dobyns, W. B., Ledbetter, D. H.
<strong>Rapid diagnosis of Miller- Dieker syndrome and isolated lissencephaly sequence by the polymerase chain reaction.</strong>
Hum. Genet. 85: 555-559, 1990.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2227942/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2227942</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2227942" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/BF00194237" target="_blank">Full Text</a>]
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<a id="Bordarier1986" class="mim-anchor"></a>
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Bordarier, C., Robain, O., Rethore, M.-O., Dulac, O., Dhellemmes, C.
<strong>Inverted neurons in agyria: a Golgi study of a case with abnormal chromosome 17.</strong>
Hum. Genet. 73: 374-378, 1986.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3744365/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3744365</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3744365" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/BF00279105" target="_blank">Full Text</a>]
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<a id="4" class="mim-anchor"></a>
<a id="Bruno2010" class="mim-anchor"></a>
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<p class="mim-text-font">
Bruno, D. L., Anderlid, B.-M., Lindstrand, A., van Ravenswaaij-Arts, C., Ganesamoorthy, D., Lundin, J., Martin, C. L., Douglas, J., Nowak, C., Adam, M. P., Kooy, R. F., Van der Aa, N., and 17 others.
<strong>Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes.</strong>
J. Med. Genet. 47: 299-311, 2010.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20452996/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20452996</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20452996" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1136/jmg.2009.069906" target="_blank">Full Text</a>]
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<a id="Cardoso2003" class="mim-anchor"></a>
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<p class="mim-text-font">
Cardoso, C., Leventer, R. J., Ward, H. L., Toyo-oka, K., Chung, J., Gross, A., Martin, C. L., Allanson, J., Pilz, D. T., Olney, A. H., Mutchinick, O. M., Hirotsune, S., Wynshaw-Boris, A., Dobyns, W. B., Ledbetter, D. H.
<strong>Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3.</strong>
Am. J. Hum. Genet. 72: 918-930, 2003.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12621583/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12621583</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12621583[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12621583" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1086/374320" target="_blank">Full Text</a>]
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<a id="6" class="mim-anchor"></a>
<a id="Chong1996" class="mim-anchor"></a>
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<p class="mim-text-font">
Chong, S. S., Lo Nigro, C., Roschke, A. V., Tanigami, A., Pack, S. D., Smith, A. C. M., Carrozzo, R., Dobyns, W. B., Ledbetter, D. H.
<strong>Point mutations and an intragenic deletion in three ILS patients confirm LIS1 as the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome. (Abstract)</strong>
Am. J. Hum. Genet. 59 (suppl.): A23 only, 1996.
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<a id="7" class="mim-anchor"></a>
<a id="De Rijk-van Andel1991" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
De Rijk-van Andel, J. F., Catsman-Berrevoets, C. E., Halley, D. J. J., Wesby-van Swaay, E., Niermeijer, M. F., Oostra, B. A.
<strong>Isolated lissencephaly sequence associated with a microdeletion at chromosome 17p13.</strong>
Hum. Genet. 87: 509-510, 1991.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1879837/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1879837</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1879837" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/BF00197179" target="_blank">Full Text</a>]
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<a id="Dhellemmes1988" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Dhellemmes, C., Girard, S., Dulac, O., Robain, O., Choiset, A., Tapia, S.
<strong>Agyria--pachygyria and Miller-Dieker syndrome: clinical, genetic and chromosome studies.</strong>
Hum. Genet. 79: 163-167, 1988.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3391613/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3391613</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3391613" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/BF00280557" target="_blank">Full Text</a>]
</p>
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<a id="9" class="mim-anchor"></a>
<a id="Dieker1969" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Dieker, H., Edwards, R. H., ZuRhein, G., Chou, S. M., Hartman, H. A., Opitz, J. M.
<strong>The lissencephaly syndrome. In: Bergsma, D. (ed.): The Clinical Delineation of Birth Defects: Malformation Syndromes. Vol II.</strong>
New York: National Foundation-March of Dimes (pub.) 1969. Pp. 53-64.
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<a id="10" class="mim-anchor"></a>
<a id="Dobyns1991" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Dobyns, W. B., Curry, C. J. R., Hoyme, H. E., Turlington, L., Ledbetter, D. H.
<strong>Clinical and molecular diagnosis of Miller-Dieker syndrome.</strong>
Am. J. Hum. Genet. 48: 584-594, 1991.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1671808/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1671808</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1671808" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
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<a id="11" class="mim-anchor"></a>
<a id="Dobyns1993" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Dobyns, W. B., Reiner, O., Carrozzo, R., Ledbetter, D. H.
<strong>Lissencephaly: a human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13.</strong>
JAMA 270: 2838-2842, 1993.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7907669/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7907669</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7907669" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1001/jama.270.23.2838" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="12" class="mim-anchor"></a>
<a id="Dobyns1984" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Dobyns, W. B., Stratton, R. F., Greenberg, F.
<strong>Syndromes with lissencephaly. I: Miller-Dieker and Norman-Roberts syndromes and isolated lissencephaly.</strong>
Am. J. Med. Genet. 18: 509-526, 1984.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6476009/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6476009</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6476009" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.1320180320" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="13" class="mim-anchor"></a>
<a id="Dobyns1983" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Dobyns, W. B., Stratton, R. F., Parke, J. T., Greenberg, F., Nussbaum, R. L., Ledbetter, D. H.
<strong>The Miller-Dieker syndrome: lissencephaly and monosomy 17p.</strong>
J. Pediat. 102: 552-558, 1983.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6834189/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6834189</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6834189" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/s0022-3476(83)80183-8" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="14" class="mim-anchor"></a>
<a id="Dobyns1988" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Dobyns, W. B., vanTuinen, P., Ledbetter, D. H.
<strong>Clinical diagnostic criteria for Miller-Dieker syndrome. (Abstract)</strong>
Am. J. Hum. Genet. 43: A46, 1988.
</p>
</div>
</li>
<li>
<a id="15" class="mim-anchor"></a>
<a id="Garcia1978" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Garcia, C. A., Dunn, D., Trevor, R.
<strong>The lissencephaly (agyria) syndrome in siblings: computerized tomographic and neuropathologic findings.</strong>
Arch. Neurol. 35: 606-611, 1978.
</p>
</div>
</li>
<li>
<a id="16" class="mim-anchor"></a>
<a id="Greenberg1986" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Greenberg, F., Stratton, R. F., Lockhart, L. H., Elder, F. F. B., Dobyns, W. B., Ledbetter, D. H.
<strong>Familial Miller-Dieker syndrome associated with pericentric inversion of chromosome 17.</strong>
Am. J. Med. Genet. 23: 853-859, 1986.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3963054/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3963054</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3963054" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.1320230402" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="17" class="mim-anchor"></a>
<a id="Hanahan1986" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Hanahan, D. J. A.
<strong>Platelet activating factor: a biologically active phosphoglyceride.</strong>
Annu. Rev. Biochem. 55: 483-509, 1986.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3017194/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3017194</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3017194" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1146/annurev.bi.55.070186.002411" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="18" class="mim-anchor"></a>
<a id="Hattori1994" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Hattori, M., Adachi, H., Tsujimoto, M., Arai, H., Inoue, K.
<strong>Miller-Dieker lissencephaly gene encodes a subunit of brain platelet-activating factor acetylhydrolase.</strong>
Nature 370: 216-218, 1994. Note: Erratum: Nature 370: 391 only, 1994.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8028668/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8028668</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8028668" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/370216a0" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="19" class="mim-anchor"></a>
<a id="Hattori1993" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Hattori, M., Arai, H., Inoue, K.
<strong>Purification and characterization of bovine brain platelet-activating factor acetylhydrolase.</strong>
J. Biol. Chem. 268: 18748-18753, 1993.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8360169/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8360169</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8360169" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
</li>
<li>
<a id="20" class="mim-anchor"></a>
<a id="Kingston1996" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Kingston, H. M., Ledbetter, D. H., Tomlin, P. I., Gaunt, K. L.
<strong>Miller-Dieker syndrome resulting from rearrangement of a familial chromosome 17 inversion detected by fluorescence in situ hybridisation.</strong>
J. Med. Genet. 33: 69-72, 1996.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8825053/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8825053</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8825053" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1136/jmg.33.1.69" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="21" class="mim-anchor"></a>
<a id="Kohler1995" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Kohler, A., Hain, J., Muller, U.
<strong>Clinical and molecular genetic findings in five patients with Miller-Dieker syndrome.</strong>
Clin. Genet. 47: 161-164, 1995.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7634541/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7634541</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7634541" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1399-0004.1995.tb03951.x" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="22" class="mim-anchor"></a>
<a id="Kuwano1991" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Kuwano, A., Ledbetter, S. A., Dobyns, W. B., Emanuel, B. S., Ledbetter, D. H.
<strong>Detection of deletions and cryptic translocations in Miller-Dieker syndrome by in situ hybridization.</strong>
Am. J. Hum. Genet. 49: 707-714, 1991.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1897521/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1897521</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1897521" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
</li>
<li>
<a id="23" class="mim-anchor"></a>
<a id="Landrieu1981" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Landrieu, P., Goffinet, A.
<strong>Inverted pyramidal neurons and their axons in the neocortex of reeler mutant mice.</strong>
Cell Tissue Res. 218: 293-301, 1981.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6167365/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6167365</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6167365" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/BF00210345" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="24" class="mim-anchor"></a>
<a id="Ledbetter1983" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Ledbetter, D. H.
<strong>Personal Communication.</strong>
Houston, Texas 5/27/1983.
</p>
</div>
</li>
<li>
<a id="25" class="mim-anchor"></a>
<a id="Ledbetter1988" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Ledbetter, D. H., Ledbetter, S. A., vanTuinen, P., Summers, K. M., Nakamura, Y.
<strong>Two VNTR probes reveal HTF islands and conserved sequences in a microdeletion syndrome. (Abstract)</strong>
Am. J. Hum. Genet. 43: A111, 1988.
</p>
</div>
</li>
<li>
<a id="26" class="mim-anchor"></a>
<a id="Ledbetter1989" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Ledbetter, D. H., Ledbetter, S. A., vanTuinen, P., Summers, K. M., Robinson, T. J., Nakamura, Y., Wolff, R., White, R., Barker, D. F., Wallace, M. R., Collins, F. S., Dobyns, W. B.
<strong>Molecular dissection of a contiguous gene syndrome: frequent submicroscopic deletions, evolutionarily conserved sequences, and a hypomethylated 'island' in the Miller-Dieker chromosome region.</strong>
Proc. Nat. Acad. Sci. 86: 5136-5140, 1989.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2740347/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2740347</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2740347" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1073/pnas.86.13.5136" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="27" class="mim-anchor"></a>
<a id="Ledbetter1992" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Ledbetter, S. A., Kuwano, A., Dobyns, W. B., Ledbetter, D. H.
<strong>Microdeletions of chromosome 17p13 as a cause of isolated lissencephaly.</strong>
Am. J. Hum. Genet. 50: 182-189, 1992.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1346078/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1346078</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1346078" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
</li>
<li>
<a id="28" class="mim-anchor"></a>
<a id="Masuno1995" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Masuno, M., Imaizumi, K., Nakamura, M., Matsui, K., Goto, A., Kuroki, Y.
<strong>Miller-Dieker syndrome due to maternal cryptic translocation t(10;17)(q26.3;p13.3).</strong>
Am. J. Med. Genet. 59: 441-443, 1995.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8585563/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8585563</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8585563" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.1320590409" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="29" class="mim-anchor"></a>
<a id="McKusick1996" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
McKusick, V. A.
<strong>Personal Communication.</strong>
Baltimore, Md. 1996.
</p>
</div>
</li>
<li>
<a id="30" class="mim-anchor"></a>
<a id="Mignon-Ravix2009" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Mignon-Ravix, C., Cacciagli, P., El-Waly, B., Mencla, A., Milh, M., Girard, N., Chabrol, B., Philip, N., Villard, L.
<strong>Deletion of YWHAE in a patient with periventricular heterotopias and pronounced corpus callosum hypoplasia.</strong>
J. Med. Genet. 47: 132-136, 2009.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19635726/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19635726</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19635726" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1136/jmg.2009.069112" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="31" class="mim-anchor"></a>
<a id="Miller1963" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Miller, J. Q.
<strong>Lissencephaly in 2 siblings.</strong>
Neurology 13: 841-850, 1963.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14066999/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14066999</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14066999" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1212/wnl.13.10.841" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="32" class="mim-anchor"></a>
<a id="Nagamani2009" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Nagamani, S. C. S., Zhang, F., Shchelochkov, O. A., Bi, W., Ou, Z., Scaglia, F., Probst, F. J., Shinawi, M., Eng, C., Hunter, J. V., Sparagana, S., Lagoe, E., and 13 others.
<strong>Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment.</strong>
J. Med. Genet. 46: 825-833, 2009.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19584063/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19584063</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19584063" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
</div>
</li>
<li>
<a id="33" class="mim-anchor"></a>
<a id="Neer1993" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Neer, E. J., Schmidt, C. J., Smith, T.
<strong>LIS is more.</strong>
Nature Genet. 5: 3-4, 1993.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8220419/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8220419</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8220419" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/ng0993-3" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="34" class="mim-anchor"></a>
<a id="Norman1976" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Norman, M. G., Roberts, M., Sirois, J., Tremblay, L. J. M.
<strong>Lissencephaly.</strong>
Canad. J. Neurol. Sci. 3: 39-46, 1976.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/175907/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">175907</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=175907" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1017/s0317167100025981" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="35" class="mim-anchor"></a>
<a id="Oostra1991" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Oostra, B. A., de Rijk-van Andel, J. F., Eussen, H. J., van Hemel, J. O., Halley, D. J. J., Niermeijer, M. F.
<strong>DNA analysis in patients with lissencephaly type I and other cortical dysplasias.</strong>
Am. J. Med. Genet. 40: 383-386, 1991.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1951447/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1951447</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1951447" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.1320400328" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="36" class="mim-anchor"></a>
<a id="Pollin1999" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Pollin, T. I., Dobyns, W. B., Crowe, C. A., Ledbetter, D. H., Bailey-Wilson, J. E., Smith, A. C. M.
<strong>Risk of abnormal pregnancy outcome in carriers of balanced reciprocal translocations involving the Miller-Dieker syndrome (MDS) critical region in chromosome 17p13.3.</strong>
Am. J. Med. Genet. 85: 369-375, 1999.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10398263/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10398263</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10398263" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
</li>
<li>
<a id="37" class="mim-anchor"></a>
<a id="Reiner1993" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Reiner, O., Carrozzo, R., Shen, Y., Wehnert, M., Faustinella, F., Dobyns, W. B., Caskey, C. T., Ledbetter, D. H.
<strong>Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats.</strong>
Nature 364: 717-721, 1993.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8355785/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8355785</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8355785" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/364717a0" target="_blank">Full Text</a>]
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<a id="38" class="mim-anchor"></a>
<a id="Reznik1964" class="mim-anchor"></a>
<div class="">
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Reznik, M., Alberca-Serrano, R.
<strong>Forme familiale d'hypertelorisme avec lissencephalie se presentant cliniquement sous forme d'une arrieration mentale avec epilepsie et paraplegie spasmodique.</strong>
J. Neurol. Sci. 1: 40-58, 1964.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14174045/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14174045</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14174045" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/0022-510x(64)90053-x" target="_blank">Full Text</a>]
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<a id="39" class="mim-anchor"></a>
<a id="Schinzel1988" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Schinzel, A.
<strong>Microdeletion syndromes, balanced translocations, and gene mapping.</strong>
J. Med. Genet. 25: 454-462, 1988.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3050093/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3050093</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3050093" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1136/jmg.25.7.454" target="_blank">Full Text</a>]
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<a id="Schwartz1988" class="mim-anchor"></a>
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Schwartz, C. E., Johnson, J. P., Holycross, B., Mandeville, T. M., Sears, T. S., Graul, E. A., Carey, J. C., Schroer, R. J., Phelan, M. C., Szollar, J., Flannery, D. B., Stevenson, R. E.
<strong>Detection of submicroscopic deletions in band 17p13 in patients with the Miller-Dieker syndrome.</strong>
Am. J. Hum. Genet. 43: 597-604, 1988.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2903661/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2903661</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2903661" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
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<a id="41" class="mim-anchor"></a>
<a id="Selypes1988" class="mim-anchor"></a>
<div class="">
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Selypes, A., Laszlo, A.
<strong>Miller-Dieker syndrome and monosomy 17p13: a new case.</strong>
Hum. Genet. 80: 103-104, 1988.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3417298/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3417298</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3417298" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/BF00451469" target="_blank">Full Text</a>]
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<a id="42" class="mim-anchor"></a>
<a id="Sharief1991" class="mim-anchor"></a>
<div class="">
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Sharief, N., Craze, J., Summers, D., Butler, L., Wood, C. B. S.
<strong>Miller-Dieker syndrome with ring chromosome 17.</strong>
Arch. Dis. Child. 66: 710-712, 1991.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1711306/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1711306</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1711306" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1136/adc.66.6.710" target="_blank">Full Text</a>]
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<a id="43" class="mim-anchor"></a>
<a id="Stratton1984" class="mim-anchor"></a>
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Stratton, R. F., Dobyns, W. B., Airhart, S. D., Ledbetter, D. H.
<strong>New chromosomal syndrome: Miller-Dieker syndrome and monosomy 17p13.</strong>
Hum. Genet. 67: 193-200, 1984.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6745939/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6745939</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6745939" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/BF00273000" target="_blank">Full Text</a>]
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<a id="44" class="mim-anchor"></a>
<a id="Toyo-oka2004" class="mim-anchor"></a>
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Toyo-oka, K., Hirotsune, S., Gambello, M. J., Zhou, Z.-Q., Olson, L., Rosenfeld, M. G., Eisenman, R., Hurlin, P., Wynshaw-Boris, A.
<strong>Loss of the Max-interacting protein Mnt in mice results in decreased viability, defective embryonic growth and craniofacial defects: relevance to Miller-Dieker syndrome.</strong>
Hum. Molec. Genet. 13: 1057-1067, 2004.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15028671/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15028671</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15028671" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1093/hmg/ddh116" target="_blank">Full Text</a>]
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<a id="45" class="mim-anchor"></a>
<a id="Toyo-oka2003" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Toyo-oka, K., Shionoya, A., Gambello, M. J., Cardoso, C., Leventer, R., Ward, H. L., Ayala, R., Tsai, L.-H., Dobyns, W., Ledbetter, D., Hirotsune, S., Wynshaw-Boris, A.
<strong>14-3-3-epsilon is important for neuronal migration by binding to NUDEL: a molecular explanation for Miller-Dieker syndrome.</strong>
Nature Genet. 34: 274-285, 2003.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12796778/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12796778</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12796778" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/ng1169" target="_blank">Full Text</a>]
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<a id="46" class="mim-anchor"></a>
<a id="vanTuinen1988" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
vanTuinen, P., Dobyns, W. B., Rich, D. C., Summers, K. M., Robinson, T. J., Nakamura, Y., Ledbetter, D. H.
<strong>Molecular detection of microscopic and submicroscopic deletions associated with Miller-Dieker syndrome.</strong>
Am. J. Hum. Genet. 43: 587-596, 1988.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3189330/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3189330</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3189330" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
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<a id="47" class="mim-anchor"></a>
<a id="vanTuinen1987" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
vanTuinen, P., Ledbetter, D. H.
<strong>Construction and utilization of a detailed somatic cell hybrid mapping panel for human chromosome 17: localization of an anonymous clone to the critical region of Miller-Dieker syndrome, deletion 17p13. (Abstract)</strong>
Cytogenet. Cell Genet. 46: 708-709, 1987.
</p>
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<a id="48" class="mim-anchor"></a>
<a id="Yingling2003" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Yingling, J., Toyo-oka, K., Wynshaw-Boris, A.
<strong>Miller-Dieker syndrome: analysis of a human contiguous gene syndrome in the mouse.</strong>
Am. J. Hum. Genet. 73: 475-488, 2003.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12905154/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12905154</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12905154" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1086/378096" target="_blank">Full Text</a>]
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<a id="contributors" class="mim-anchor"></a>
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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Cassandra L. Kniffin - updated : 6/3/2010
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George E. Tiller - updated : 9/6/2006<br>Victor A. McKusick - updated : 10/13/2003<br>Victor A. McKusick - updated : 6/9/2003<br>Ada Hamosh - updated : 5/9/2003<br>Victor A. McKusick - updated : 8/31/1999<br>Michael J. Wright - updated : 2/12/1999<br>Iosif W. Lurie - updated : 8/6/1996
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Creation Date:
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Victor A. McKusick : 6/3/1986
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<a id="editHistory" class="mim-anchor"></a>
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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carol : 10/14/2016
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mgross : 09/19/2016<br>mgross : 09/16/2013<br>alopez : 3/21/2013<br>terry : 6/21/2011<br>carol : 6/2/2011<br>wwang : 6/9/2010<br>ckniffin : 6/3/2010<br>carol : 1/12/2010<br>ckniffin : 1/12/2010<br>carol : 11/6/2009<br>terry : 6/3/2009<br>alopez : 9/6/2006<br>alopez : 9/6/2006<br>tkritzer : 10/16/2003<br>terry : 10/13/2003<br>alopez : 7/28/2003<br>alopez : 6/10/2003<br>terry : 6/9/2003<br>cwells : 5/13/2003<br>terry : 5/9/2003<br>ckniffin : 1/3/2003<br>carol : 3/14/2001<br>jlewis : 9/14/1999<br>terry : 8/31/1999<br>mgross : 3/4/1999<br>mgross : 3/1/1999<br>terry : 2/12/1999<br>alopez : 1/25/1999<br>carol : 11/30/1998<br>psherman : 3/31/1998<br>terry : 3/26/1998<br>joanna : 5/14/1997<br>mark : 12/4/1996<br>terry : 11/21/1996<br>mark : 9/3/1996<br>carol : 8/6/1996<br>mark : 1/17/1996<br>terry : 1/16/1996<br>mark : 6/8/1995<br>terry : 6/3/1995<br>pfoster : 5/23/1995<br>carol : 12/2/1994<br>mimadm : 4/29/1994<br>warfield : 4/15/1994
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<h3>
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<strong>#</strong> 247200
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<span class="mim-font">
MILLER-DIEKER LISSENCEPHALY SYNDROME; MDLS
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<em>Alternative titles; symbols</em>
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MDS
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Other entities represented in this entry:
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CHROMOSOME 17p13.3 DELETION SYNDROME, INCLUDED
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MILLER-DIEKER SYNDROME CHROMOSOME REGION, INCLUDED; MDCR, INCLUDED
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<strong>SNOMEDCT:</strong> 204036008, 253148005; &nbsp;
<strong>ICD10CM:</strong> Q93.88; &nbsp;
<strong>ORPHA:</strong> 531; &nbsp;
<strong>DO:</strong> 0060469; &nbsp;
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<strong>
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Cytogenetic location: 17p13.3
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Genomic coordinates <span class="small">(GRCh38)</span> : 17:1-3,400,000 </span>
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<strong>Gene-Phenotype Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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17p13.3
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Miller-Dieker lissencephaly syndrome
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247200
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Autosomal dominant
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4
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because Miller-Dieker lissencephaly syndrome is a contiguous gene deletion syndrome involving genes on chromosome 17p13.3.</p><p>See also the 17p13.3 duplication syndrome (613215), which involves the same chromosomal region.</p>
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<strong>Description</strong>
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<p>Features of the Miller-Dieker syndrome include classic lissencephaly (pachygyria, incomplete or absent gyration of the cerebrum), microcephaly, wrinkled skin over the glabella and frontal suture, prominent occiput, narrow forehead, downward slanting palpebral fissures, small nose and chin, cardiac malformations, hypoplastic male extrenal genitalia, growth retardation, and mental deficiency with seizures and EEG abnormalities. Life expectancy is grossly reduced, with death most often occurring during early childhood (summary by Schinzel, 1988). </p><p>Lissencephaly means 'smooth brain,' i.e., brain without convolutions or gyri.</p><p>Deletion of or mutation in the LIS1 gene (PAFAH1B1; 601545) appears to cause the lissencephaly because point mutations have been identified in this gene in isolated lissencephaly sequence (ILS; see 607432). Facial dysmorphism and other anomalies in Miller-Dieker patients appear to be the consequence of deletion of additional genes distal to LIS1. Toyo-oka et al. (2003) presented evidence that the gene whose deletion is responsible for the greater severity of Miller-Dieker syndrome compared to isolated lissencephaly is the gene encoding 14-3-3-epsilon (YWHAE; 605066). </p>
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<strong>Clinical Features</strong>
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<p>Miller (1963) described this condition in a brother and sister who were the fifth and sixth children of unrelated parents. The features were microcephaly, small mandible, bizarre facies, failure to thrive, retarded motor development, dysphagia, decorticate and decerebrate postures, and death at 3 and 4 months, respectively. Autopsy showed anomalies of the brain, kidney, heart, and gastrointestinal tract. The brains were smooth with large ventricles and a histologic architecture more like normal fetal brain of 3 to 4 months' gestation. </p><p>Dieker et al. (1969) described 2 affected brothers and an affected female maternal first cousin. They also emphasized that this should be termed the lissencephaly syndrome because malformations of the heart, kidneys, and other organs, as well as polydactyly and unusual facial appearance, are associated.</p><p>Reznik and Alberca-Serrano (1964) described 2 brothers with congenital hypertelorism, mental defect, intractable epilepsy, progressive spastic paraplegia, and death at ages 19 and 9 years. The mother showed hypertelorism and short-lived epileptiform attacks. Autopsy showed lissencephaly with massive neuronal heterotopia, and large ventricular cavities of embryonic type. (The findings in the mother made X-linked recessive inheritance a possibility.) The patients of Reznik and Alberca-Serrano (1964) may have suffered from a disorder distinct from that described by Miller (1963) and Dieker et al. (1969). All patients with the Miller-Dieker syndrome are severely retarded. None learned to speak. They may walk by 3 to 5 years but spastic diplegia with spastic gait is evident. As in other forms of stationary forebrain developmental anomalies, decerebrate posturing with head retraction emerges in the first year of life. </p><p>Dobyns et al. (1983) stated that the most characteristic finding on computerized tomography is complete failure of opercularization of the frontal and temporal lobes, and that this most likely accounts for bitemporal hollowing. (Opercularization is formation of the parts of the lobes that cover part of the insula.) The form of lissencephaly in the Miller-Dieker syndrome was designated classic or type I lissencephaly by Dobyns et al. (1984). It is characterized by microcephaly and a thickened cortex with 4 rather than 6 layers. </p><p>Bordarier et al. (1986) pointed out that agyria was considered a rare malformation until the recent progress in neuroradiology. </p><p>Selypes and Laszlo (1988) described the Miller-Dieker syndrome in a 12-year-old boy with a de novo terminal deletion of 17p13. He had growth retardation, microcephaly, ptosis of the left eyelid, low-set ears, prominent philtrum, thin upper lip, clinodactyly of the fifth fingers, and atrial septal defect. Lissencephaly was demonstrated by computerized tomography. MDS is a severe neuronal migration abnormality. </p><p>Dobyns et al. (1988) found the most consistent features of the facies in MDLS to be bitemporal hollowing, prominent forehead, short nose with upturned nares, prominent upper lip, thin vermilion border of the upper lip, and small jaw. Agenesis of the corpus callosum was demonstrated by computerized tomography in about 90% of cases. The cerebellum was normal in all. Striking midline calcifications were found in most patients with visible chromosomal change.</p><p>Allanson et al. (1998) reported pattern profiles on 5 children with MDLS and 25 children and adolescents with isolated lissencephaly sequence. The patients with ILS at all ages showed reduced head circumference and a wide and flat face with a broad nose and widely spaced eyes. In the age group of 6 months to 4 years of age, there was similarity between the pattern profiles of ILS and MDLS, with a correlation coefficient of 0.812 (p less than 0.001). In MDLS there are a few distinguishing features, including brachycephaly, a slightly wider face, and a considerably shorter nose. Allanson et al. (1998) concluded that given the striking similarity of the pattern profiles, the principal diagnostic discriminators are qualitative features, specifically the tall, furrowed forehead and the long, broad thickened upper lip in MDLS. They also concluded that their observations were consistent with the concept of additional gene(s) telomeric to LIS1 contributing to the facial phenotype of MDLS. </p>
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<h4>
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<strong>Cytogenetics</strong>
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</div>
<span class="mim-text-font">
<p>Dobyns et al. (1983) found a ring chromosome 17 in 1 patient and were prompted to study 2 other cases. They found partial monosomy of 17p13 in one of these. A review of the literature uncovered abnormality of 17p in 5 other patients in 3 families. Sharief et al. (1991) reported a case of MDS associated with ring chromosome 17. </p><p>Ledbetter (1983) studied the parents of the patients reported by Miller (1963), Dieker et al. (1969), and Norman et al. (1976). The father of Miller's sibs had a 15q;17p translocation; the father of Dieker's patients 1 and 3 had a 12q;17p translocation and both parents of Norman's patient had normal karyotypes. An autosomal recessive form of lissencephaly was suggested also by the parental consanguinity in Norman's case (see LIS2, 257320). </p><p>Stratton et al. (1984) further narrowed the monosomy to 17p13.3. They also reported prenatal diagnosis. In a patient with MDS and no cytogenetically detectable deletion, vanTuinen and Ledbetter (1987) found evidence of deletion by use of a DNA marker located at 17p13.3. Greenberg et al. (1986) described a family in which the mother had a pericentric inversion of chromosome 17 and 2 of her children had MDS. One of them was shown to carry a recombinant 17 consisting of dup(17q) and del(17p). The patient described by Selypes and Laszlo (1988) had a de novo terminal deletion of 17p13. </p><p>Bordarier et al. (1986) reported anatomoclinical observations on a case of partial deletion of 17p. Golgi stains showed many inverted pyramidal cells in the superficial part of the cortex. </p><p>Dhellemmes et al. (1988) found a microdeletion of 17p in 1 of 12 cases with lissencephaly. They subscribed to the 4-way classification of lissencephalies proposed by Dobyns et al. (1984): the Miller-Dieker syndrome with abnormality of chromosome 17; the Miller-Dieker syndrome without evident abnormality of chromosome 17; a disorder with manifestations unlike those of the Miller-Dieker syndrome but with familial occurrence and normal chromosomes (Norman-Roberts syndrome; 257320); and a form without characteristic facial dysmorphism and without familial occurrence. In the study of Dhellemmes et al. (1988), 1 patient was in category 1 and the other 11 were in category 4. </p><p>Dobyns et al. (1991) reviewed the results of their clinical, cytogenetic, and molecular studies in 27 patients with MDS from 25 families. All had severe type I lissencephaly with grossly normal cerebellum and a distinctive facial appearance consisting of prominent forehead, bitemporal hollowing, short nose with upturned nares, protuberant upper lip, thin vermilion border, and small jaw. Chromosome analysis showed deletion of band 17p13 in 14 of 25 MDS probands. Studies using probes from the 17p13.3 region detected deletions in 19 of 25 probands tested, including 7 in whom chromosome analysis was normal. When the cytogenetic and molecular data were combined, deletions were detected in 21 of 25 probands. Of the 11 patients in whom parental origin of the de novo deletion was determined, paternal origin was demonstrated in 7 and maternal origin in 4. </p><p>De Rijk-van Andel et al. (1991) identified a submicroscopic deletion of 2 DNA markers located at 17p13 in a patient with isolated grade 3 lissencephaly. The findings suggested that MDS and isolated lissencephaly have a common etiology. </p><p>About 90% of MDS patients have visible or submicroscopic deletions of 17p13.3; Ledbetter et al. (1992) investigated the possibility that some patients with 'isolated lissencephaly sequence' (ILS) had smaller deletions in that chromosomal region. Their studies uncovered 6 submicroscopic deletions in 45 ILS patients with gyral abnormalities ranging from complete agyria to mixed agyria/pachygyria and complete pachygyria. In situ hybridization proved to be the most rapid and sensitive method of deletion detection. The centromeric boundary of these deletions overlapped that of MDS patients, while the telomeric boundary for 4 of them was proximal to that of MDS. </p><p>Oostra et al. (1991) studied 5 patients with MDS, 17 patients with isolated lissencephaly sequence, 1 patient with an unclassified form of lissencephaly, and 9 patients with an atypical cortical dysplasia. All patients had normal chromosomes except for a deletion of 17p13.3 in 1 of the 5 MDS patients. The 5 MDS patients showed deletion of markers YNZ22.1 and YNH37.3. Dobyns et al. (1993) reviewed the clinical phenotype, pathologic changes, and results of cytogenetic and molecular genetic studies in 90 probands with lissencephaly, with emphasis on patients with the classic form (type I). </p><p>A cryptic translocation in one of the parents of MDS patients had been found using fluorescence in situ hybridization (FISH) (Kuwano et al., 1991). Masuno et al. (1995) described a patient with MDS and a maternal cryptic translocation. Kingston et al. (1996) described a boy who, in addition to lissencephaly and facial features of MDS, had rhizomelic shortening of the limbs, cleft palate, hypospadias, and sacral tail. Banded chromosome analysis did not reveal any abnormality of chromosome 17. FISH studies with the alpha satellite probe D17Z1 and 3 overlapping cosmids from the MDS critical region showed that his mother and grandmother carried a balanced inv(17)(p13.3q25.1). The proband's karyotype was 46,XY,rec(17),dup q,inv(17)(p13.3q25.1)mat. Additional manifestations in the proband were due to distal 17q trisomy. Masuno et al. (1995) and Kingston et al. (1996) stated that FISH analysis is crucial to exclude subtle rearrangements in affected children and their parents. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Inheritance</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>McKusick (1996) noted that this disorder was originally classified as an autosomal recessive disorder in Mendelian Inheritance in Man; it was later found that both isolated lissencephaly sequence and the Miller-Dieker syndrome are due to haploinsufficiency of one or more genes on 17p and are autosomal dominant disorders.</p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Mapping</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>VanTuinen et al. (1988) found that the genes for myosin heavy chain-2 (160740), tumor antigen p53, and RNA polymerase II (180660), previously mapped to 17p, are not included in the MDS deletion region and therefore are unlikely to play a role in its pathogenesis. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Molecular Genetics</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Ledbetter et al. (1988) described 2 variable number tandem repeat (VNTR) probes that revealed a 15-kb region containing HTF islands that are likely to be markers of expressed sequences. Use of these probes showed homology to chromosome 11 in the mouse. Because of the close location of MDCR to tumor antigen p53 (TP53; 191170) and MYHSA1 (160730) in man, the homologous locus in the mouse is probably close to the corresponding loci in that species. Several neurologic mutants in the mouse map to that region.</p><p>In 2 MDS patients with normal chromosomes, a combination of somatic cell hybrid, RFLP, and densitometric studies demonstrated deletion of polymorphic anonymous probes in the paternally derived chromosome 17 (VanTuinen et al., 1988). This demonstration of submicroscopic deletion suggests that all MDS patients may have deletions at the molecular level. In an addendum, the authors stated that 3 additional MDS patients without cytogenetically detectable deletions had been found to have molecular deletions and that 'to date' 13 of 13 MDS patients had molecular deletions. Using anonymous probes, Schwartz et al. (1988) likewise found molecular deletions in 3 MDS patients, 2 of whom had no visible abnormalities of chromosome 17. None of the 3 RFLP loci studied was absent in a case of lissencephaly without MDS. </p><p>Ledbetter et al. (1989) found that in all of 7 patients 3 overlapping cosmids spanning more than 100 kb were completely deleted, thus providing a minimum estimate of the size of the MDS critical region. A hypomethylated island and evolutionarily conserved sequences were identified within this 100-kb region--indications of the presence of one or more expressed sequences potentially involved in the pathophysiology of this disorder. </p><p>Reiner et al. (1993) cloned a gene called LIS1 (lissencephaly-1) in 17p13.3 that is deleted in Miller-Dieker patients. Nonoverlapping deletions involving either the 5-prime or the 3-prime end of the gene were found in 2 patients, identifying LIS1 as the disease gene. The deduced amino acid sequence showed significant homology to beta subunits of heterotrimeric G proteins, suggesting that it may be involved in a signal transduction pathway crucial for cerebral development. Since haploinsufficiency appears to lead to the syndrome, half the normal dosage of the gene product is apparently inadequate for normal development. It may be that improper proportions of beta and gamma subunits of a G protein disturb formation of the normal protein complex, as in hemoglobin H disease, which is caused by an imbalance in the ratio of alpha- to beta-globin. About 15% of patients with isolated lissencephaly and more than 90% of patients with Miller-Dieker syndrome have microdeletions in a critical 350-kb region of 17p13.3. Genotype/phenotype studies are necessary to explain the phenotypic differences. Neer et al. (1993) commented on the nature of the newly found gene and the usefulness of identifying families of genes and the proteins they encode. </p><p>Platelet-activating factor (PAF) is involved in a variety of biologic and pathologic processes (Hanahan, 1986). PAF acetylhydrolase, which inactivates PAF by removing the acetyl group at the sn-2 position, is widely distributed in plasma and tissue cytosols. One isoform of PAF acetylhydrolase present in bovine brain cortex is a heterotrimer comprising subunits with relative molecular masses of 45, 30, and 29 kD (Hattori et al., 1993). Hattori et al. (1994) isolated the cDNA for the 45-kD subunit. Sequence analysis revealed 99% identity with the LIS1 gene, indicating that the LIS1 gene product is a human homolog of the 45-kD subunit of intracellular PAF acetylhydrolase. The results raised the possibility that PAF and PAF acetylhydrolase are important in the formation of the brain cortex during differentiation and development. </p><p>Kohler et al. (1995) searched for microdeletions in 17p13.3 in 5 patients with lissencephaly-1, typical features of Miller-Dieker syndrome and apparently normal karyotypes. Analysis of loci D17S5 and D17S379 by PCR and FISH revealed a deletion in 3 of the 5 cases. No deletion was observed in the other 2. Given the almost identical clinical picture of the 5 patients, the great variation in the molecular findings argued against Miller-Dieker syndrome being a contiguous gene syndrome. </p><p>Chong et al. (1996) characterized the LIS1 gene (PAFAB1B1; 601545), demonstrating the presence of 11 exons. SSCP analysis of individual exons was performed on 18 patients with isolated lissencephaly sequence (ILS; see 607432) who showed no deletions detectable by FISH. In 3 of these patients, point mutations were identified: a missense mutation, a nonsense mutation, and a 22-bp deletion at the exon 9-intron 9 junction predicted to result in a splicing error. The findings confirmed the view that mutations of LIS1 are the cause of the lissencephaly phenotype in ILS and in the Miller-Dieker syndrome. Together with the results of deletion analysis for other ILS and Miller-Dieker syndrome patients, these data are also consistent with the previous suggestion that additional genes distal to LIS1 are responsible for the facial dysmorphism and other anomalies in MDS patients.</p><p>Cardoso et al. (2003) completed a physical and transcriptional map of the chromosome 17p13.3 region from LIS1 to the telomere. Using FISH, Cardoso et al. (2003) mapped the deletion size in 19 children with ILS (607432), 11 children with MDS, and 4 children with 17p13.3 deletions not involving LIS1. Cardoso et al. (2003) showed that the critical region that differentiates ILS from MDS at the molecular level can be reduced to 400 kb. Using somatic cell hybrids from selected patients, Cardoso et al. (2003) identified 8 genes consistently deleted in patients classified as having MDS: PRP8 (607300), RILP (607848), SREC (SCARF1; 607873), PITPNA (600174), SKIP (INPP5K; 607875), MYO1C (606538), CRK (164762), and 14-3-3-epsilon (YWHAE; 605066). These genes defined the telomeric MDS critical region, which contains additional genes distal to LIS1 that are responsible for the clinical features that distinguish MDS from ILS. In addition, deletion of the CRK and YWHAE genes delineated patients with the most severe lissencephaly grade. Deletion of the ABR gene (600365), which is outside the MDS critical region, was associated with no apparent phenotype. On the basis of recent functional data and the creation of a mouse model suggesting a role for YWHAE in cortical development, Cardoso et al. (2003) suggested that deletion of 1 or both of these genes in combination with deletion of LIS1 may contribute to the more severe form of lissencephaly seen only in patients with Miller-Dieker syndrome. </p><p><strong><em>Chromosome 17p13.3 Deletion Syndrome</em></strong></p><p>
Nagamani et al. (2009) reported 5 patients with 17q13.3 deletions involving YWHAE but not PAFAH1B1, 2 with deletion including PAFAH1B1 but not YWHAE, and 1 with deletion of YWHAE and mosaic for deletion of PAFAH1B1. Three deletions were terminal, and 5 were interstitial; all were de novo. Patients with deletions including YWHAE but not PAFAH1B1 had significant growth restriction, cognitive impairment, and shared craniofacial features, including tall vertex, prominent forehead, broad nasal root, and epicanthal folds. Brain imaging was abnormal in all but 1 individual. The most common brain imaging abnormalities included prominent Virchow-Robin spaces, periventricular and white matter signals, Chiari I malformation, and abnormal corpus callosum. Patients with deletions including PAFAH1B1 but not YWHAE presented with seizures, significant developmental delay, and classic lissencephaly. Growth restriction was not observed in 1 patient with deletion of YWHAE, suggesting that another gene, perhaps CRK, may be involved in growth regulation. The interstitial genomic rearrangements were likely generated by diverse mechanisms. </p><p>Mignon-Ravix et al. (2009) reported a patient with developmental delay and facial dysmorphism who was found to have a heterozygous deletion of 394 to 411 kb on chromosome 17p13.3. The mother did not carry the deletion, and the father was not available for study. At age 3 years 7 months, the boy had macrocephaly and facial anomalies reminiscent of MDS, including high forehead with bitemporal hollowing, hypertelorism, epicanthus, downslanting palpebral fissures, anteverted nares, pronounced cupid bow, and small low-set posteriorly rotated ears with irregular helices. Brain MRI showed pronounced hypoplasia of the corpus callosum with posterior agenesis and ependymal and periventricular nodular heterotopias, mostly in the occipital areas. Anterior regions displayed malformation of cortical development with polymicrogyric like appearance of the frontal lobes associated with foci of pachygyria and subcortical heterotopias. The deleted region contained 5 genes: TIMM22 (607251), ABR, BHLHA9 (615416), TUSC5 (612211) and YWHAE, but only haploinsufficiency of YWHAE was considered to be pathogenic. The phenotype was similar to that described in heterozygous Ywhae-deficient mice (see Toyo-oka et al., 2003). The facial features in this patient also suggested that genes located in this region could contribute to the facial phenotype of MDS. </p><p>Bruno et al. (2010) identified 8 unrelated individuals with microdeletions at chromosome 17p13.3. One patient had a complex deletion and duplication. All except 1 were de novo and included the YWHAE gene, which was found in an affected sib and a less severely affected mother. The smallest deletion was 328 kb in size, and all breakpoints were distinct. In a comparison with previous studies (Mignon-Ravix et al., 2009 and Nagamani et al., 2009), Bruno et al. (2010) determined that the delineated critical region spanned approximately 258 kb and included 6 genes: TUSC5, YWHAE, CRK, MYO1C, SKIP and part of PITPNA. YWHAE was considered to play a large role in the phenotype, and CRK was the likely candidate for growth restriction. The variable phenotype included postnatal growth retardation and mild facial features such as laterally extended eyebrows, infraorbital folds, broad nasal tip, maxillary prominence and prominent upper and/or lower lip. The 2 affected sibs had developmental delay, but their mother who had the deletion had normal cognition; facial features in this family were minimal. Brain MRI performed in 5 individuals showed no evidence of lissencephaly, but showed mild structural anomalies in the white matter. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Diagnosis</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>For rapid diagnosis, Batanian et al. (1990) used PCR in connection with probe YNZ22 (D17S5), a highly polymorphic, variable number tandem repeat (VNTR) marker previously shown to be deleted in all patients with MDS, but not in patients with isolated lissencephaly sequence. Analysis of 118 normal persons revealed 12 alleles (differing in copy number of a 70-bp repeat unit) ranging in size from 168 to 938 bp. </p><p>Pollin et al. (1999) evaluated the risk of abnormal pregnancy outcome in carriers of balanced reciprocal translocations involving the MDS critical region in 17p13.3. Fourteen families were ascertained on the basis of an affected index case. In these 14 families, 38 balanced translocation carriers had 127 pregnancies, corrected for ascertainment bias by the exclusion of all index cases and carriers in the line of descent to the index cases. An abnormal phenotype, an unbalanced chromosome constitution, or both, were found in 33 of the 127 (26%) pregnancies: 15 of 127 (12%) had MDS and an unbalanced karyotype with del(17p); 9 of 127 (7%) had a less severe phenotype with dup(17p); and 9 were unstudied, although MDS with der(17) was usually suspected based on early death and multiple congenital anomalies. When unexplained pregnancy losses, including miscarriages and stillbirths, were excluded from the total, 33 of 99 (33%) pregnancies were phenotypically or genotypically abnormal. The overall risk of abnormal pregnancy outcome of 26% was in the upper range of the reported risk for unbalanced offspring of carrier parents ascertained through liveborn aneuploid offspring. The risk increased to 33% when unexplained pregnancy losses were excluded from the total. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Animal Model</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>The condition of so-called inverted pyramids is observed in the 'reeler' mutation in mice (Landrieu and Goffinet, 1981). The 'reeler' mutation (re) is located on mouse chromosome 5, a chromosome that carries no gene known thus far to be homologous to a gene on human chromosome 17. Thus, there is no support from homology of synteny for the notion that agyria in man is the same as 'reeler' in the mouse. </p><p>The conserved sequences identified by Ledbetter et al. (1989) were mapped to mouse chromosome 11 by using mouse-rat somatic cell hybrids, thus extending the remarkable homology between human chromosome 17 and mouse chromosome 11 by 30 cM, into the 17p telomere region. </p><p>Yingling et al. (2003) discussed the prospects of using the mouse to model Miller-Dieker syndrome. Null and conditional knockout alleles in the mouse had been generated for Lis1 and Mnt (603039), and null alleles had been produced for Hic1 (603825) and 14-3-3-epsilon. For Lis1 and Pitpna (600174), hypomorphic alleles also existed. </p><p>Toyo-oka et al. (2004) produced knockout mice for Mnt. Virtually all homozygote mutants in a mixed (129S6 x NIH Black Swiss) or inbred (129S6) genetic background died perinatally. Mnt-deficient embryos exhibited small size throughout development and showed reduced levels of c-Myc (190080) and N-Myc (164840). In addition, 37% of mixed-background mutants displayed cleft palate as well as retardation of skull development, a phenotype not observed in the inbred mutants. The authors proposed an important role for Mnt in embryonic development and survival, and suggested that Mnt may play a role in the craniofacial defects displayed by MDLS patients. </p>
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>See Also:</strong>
</span>
</h4>
<span class="mim-text-font">
Garcia et al. (1978)
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>REFERENCES</strong>
</span>
</h4>
<div>
<p />
</div>
<div>
<ol>
<li>
<p class="mim-text-font">
Allanson, J. E., Ledbetter, D. H., Dobyns, W. B.
<strong>Classical lissencephaly syndromes: does the face reflect the brain?</strong>
J. Med. Genet. 35: 920-923, 1998.
[PubMed: 9832039]
[Full Text: https://doi.org/10.1136/jmg.35.11.920]
</p>
</li>
<li>
<p class="mim-text-font">
Batanian, J. R., Ledbetter, S. A., Wolff, R. K., Nakamura, Y., White, R., Dobyns, W. B., Ledbetter, D. H.
<strong>Rapid diagnosis of Miller- Dieker syndrome and isolated lissencephaly sequence by the polymerase chain reaction.</strong>
Hum. Genet. 85: 555-559, 1990.
[PubMed: 2227942]
[Full Text: https://doi.org/10.1007/BF00194237]
</p>
</li>
<li>
<p class="mim-text-font">
Bordarier, C., Robain, O., Rethore, M.-O., Dulac, O., Dhellemmes, C.
<strong>Inverted neurons in agyria: a Golgi study of a case with abnormal chromosome 17.</strong>
Hum. Genet. 73: 374-378, 1986.
[PubMed: 3744365]
[Full Text: https://doi.org/10.1007/BF00279105]
</p>
</li>
<li>
<p class="mim-text-font">
Bruno, D. L., Anderlid, B.-M., Lindstrand, A., van Ravenswaaij-Arts, C., Ganesamoorthy, D., Lundin, J., Martin, C. L., Douglas, J., Nowak, C., Adam, M. P., Kooy, R. F., Van der Aa, N., and 17 others.
<strong>Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes.</strong>
J. Med. Genet. 47: 299-311, 2010.
[PubMed: 20452996]
[Full Text: https://doi.org/10.1136/jmg.2009.069906]
</p>
</li>
<li>
<p class="mim-text-font">
Cardoso, C., Leventer, R. J., Ward, H. L., Toyo-oka, K., Chung, J., Gross, A., Martin, C. L., Allanson, J., Pilz, D. T., Olney, A. H., Mutchinick, O. M., Hirotsune, S., Wynshaw-Boris, A., Dobyns, W. B., Ledbetter, D. H.
<strong>Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3.</strong>
Am. J. Hum. Genet. 72: 918-930, 2003.
[PubMed: 12621583]
[Full Text: https://doi.org/10.1086/374320]
</p>
</li>
<li>
<p class="mim-text-font">
Chong, S. S., Lo Nigro, C., Roschke, A. V., Tanigami, A., Pack, S. D., Smith, A. C. M., Carrozzo, R., Dobyns, W. B., Ledbetter, D. H.
<strong>Point mutations and an intragenic deletion in three ILS patients confirm LIS1 as the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome. (Abstract)</strong>
Am. J. Hum. Genet. 59 (suppl.): A23 only, 1996.
</p>
</li>
<li>
<p class="mim-text-font">
De Rijk-van Andel, J. F., Catsman-Berrevoets, C. E., Halley, D. J. J., Wesby-van Swaay, E., Niermeijer, M. F., Oostra, B. A.
<strong>Isolated lissencephaly sequence associated with a microdeletion at chromosome 17p13.</strong>
Hum. Genet. 87: 509-510, 1991.
[PubMed: 1879837]
[Full Text: https://doi.org/10.1007/BF00197179]
</p>
</li>
<li>
<p class="mim-text-font">
Dhellemmes, C., Girard, S., Dulac, O., Robain, O., Choiset, A., Tapia, S.
<strong>Agyria--pachygyria and Miller-Dieker syndrome: clinical, genetic and chromosome studies.</strong>
Hum. Genet. 79: 163-167, 1988.
[PubMed: 3391613]
[Full Text: https://doi.org/10.1007/BF00280557]
</p>
</li>
<li>
<p class="mim-text-font">
Dieker, H., Edwards, R. H., ZuRhein, G., Chou, S. M., Hartman, H. A., Opitz, J. M.
<strong>The lissencephaly syndrome. In: Bergsma, D. (ed.): The Clinical Delineation of Birth Defects: Malformation Syndromes. Vol II.</strong>
New York: National Foundation-March of Dimes (pub.) 1969. Pp. 53-64.
</p>
</li>
<li>
<p class="mim-text-font">
Dobyns, W. B., Curry, C. J. R., Hoyme, H. E., Turlington, L., Ledbetter, D. H.
<strong>Clinical and molecular diagnosis of Miller-Dieker syndrome.</strong>
Am. J. Hum. Genet. 48: 584-594, 1991.
[PubMed: 1671808]
</p>
</li>
<li>
<p class="mim-text-font">
Dobyns, W. B., Reiner, O., Carrozzo, R., Ledbetter, D. H.
<strong>Lissencephaly: a human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13.</strong>
JAMA 270: 2838-2842, 1993.
[PubMed: 7907669]
[Full Text: https://doi.org/10.1001/jama.270.23.2838]
</p>
</li>
<li>
<p class="mim-text-font">
Dobyns, W. B., Stratton, R. F., Greenberg, F.
<strong>Syndromes with lissencephaly. I: Miller-Dieker and Norman-Roberts syndromes and isolated lissencephaly.</strong>
Am. J. Med. Genet. 18: 509-526, 1984.
[PubMed: 6476009]
[Full Text: https://doi.org/10.1002/ajmg.1320180320]
</p>
</li>
<li>
<p class="mim-text-font">
Dobyns, W. B., Stratton, R. F., Parke, J. T., Greenberg, F., Nussbaum, R. L., Ledbetter, D. H.
<strong>The Miller-Dieker syndrome: lissencephaly and monosomy 17p.</strong>
J. Pediat. 102: 552-558, 1983.
[PubMed: 6834189]
[Full Text: https://doi.org/10.1016/s0022-3476(83)80183-8]
</p>
</li>
<li>
<p class="mim-text-font">
Dobyns, W. B., vanTuinen, P., Ledbetter, D. H.
<strong>Clinical diagnostic criteria for Miller-Dieker syndrome. (Abstract)</strong>
Am. J. Hum. Genet. 43: A46, 1988.
</p>
</li>
<li>
<p class="mim-text-font">
Garcia, C. A., Dunn, D., Trevor, R.
<strong>The lissencephaly (agyria) syndrome in siblings: computerized tomographic and neuropathologic findings.</strong>
Arch. Neurol. 35: 606-611, 1978.
</p>
</li>
<li>
<p class="mim-text-font">
Greenberg, F., Stratton, R. F., Lockhart, L. H., Elder, F. F. B., Dobyns, W. B., Ledbetter, D. H.
<strong>Familial Miller-Dieker syndrome associated with pericentric inversion of chromosome 17.</strong>
Am. J. Med. Genet. 23: 853-859, 1986.
[PubMed: 3963054]
[Full Text: https://doi.org/10.1002/ajmg.1320230402]
</p>
</li>
<li>
<p class="mim-text-font">
Hanahan, D. J. A.
<strong>Platelet activating factor: a biologically active phosphoglyceride.</strong>
Annu. Rev. Biochem. 55: 483-509, 1986.
[PubMed: 3017194]
[Full Text: https://doi.org/10.1146/annurev.bi.55.070186.002411]
</p>
</li>
<li>
<p class="mim-text-font">
Hattori, M., Adachi, H., Tsujimoto, M., Arai, H., Inoue, K.
<strong>Miller-Dieker lissencephaly gene encodes a subunit of brain platelet-activating factor acetylhydrolase.</strong>
Nature 370: 216-218, 1994. Note: Erratum: Nature 370: 391 only, 1994.
[PubMed: 8028668]
[Full Text: https://doi.org/10.1038/370216a0]
</p>
</li>
<li>
<p class="mim-text-font">
Hattori, M., Arai, H., Inoue, K.
<strong>Purification and characterization of bovine brain platelet-activating factor acetylhydrolase.</strong>
J. Biol. Chem. 268: 18748-18753, 1993.
[PubMed: 8360169]
</p>
</li>
<li>
<p class="mim-text-font">
Kingston, H. M., Ledbetter, D. H., Tomlin, P. I., Gaunt, K. L.
<strong>Miller-Dieker syndrome resulting from rearrangement of a familial chromosome 17 inversion detected by fluorescence in situ hybridisation.</strong>
J. Med. Genet. 33: 69-72, 1996.
[PubMed: 8825053]
[Full Text: https://doi.org/10.1136/jmg.33.1.69]
</p>
</li>
<li>
<p class="mim-text-font">
Kohler, A., Hain, J., Muller, U.
<strong>Clinical and molecular genetic findings in five patients with Miller-Dieker syndrome.</strong>
Clin. Genet. 47: 161-164, 1995.
[PubMed: 7634541]
[Full Text: https://doi.org/10.1111/j.1399-0004.1995.tb03951.x]
</p>
</li>
<li>
<p class="mim-text-font">
Kuwano, A., Ledbetter, S. A., Dobyns, W. B., Emanuel, B. S., Ledbetter, D. H.
<strong>Detection of deletions and cryptic translocations in Miller-Dieker syndrome by in situ hybridization.</strong>
Am. J. Hum. Genet. 49: 707-714, 1991.
[PubMed: 1897521]
</p>
</li>
<li>
<p class="mim-text-font">
Landrieu, P., Goffinet, A.
<strong>Inverted pyramidal neurons and their axons in the neocortex of reeler mutant mice.</strong>
Cell Tissue Res. 218: 293-301, 1981.
[PubMed: 6167365]
[Full Text: https://doi.org/10.1007/BF00210345]
</p>
</li>
<li>
<p class="mim-text-font">
Ledbetter, D. H.
<strong>Personal Communication.</strong>
Houston, Texas 5/27/1983.
</p>
</li>
<li>
<p class="mim-text-font">
Ledbetter, D. H., Ledbetter, S. A., vanTuinen, P., Summers, K. M., Nakamura, Y.
<strong>Two VNTR probes reveal HTF islands and conserved sequences in a microdeletion syndrome. (Abstract)</strong>
Am. J. Hum. Genet. 43: A111, 1988.
</p>
</li>
<li>
<p class="mim-text-font">
Ledbetter, D. H., Ledbetter, S. A., vanTuinen, P., Summers, K. M., Robinson, T. J., Nakamura, Y., Wolff, R., White, R., Barker, D. F., Wallace, M. R., Collins, F. S., Dobyns, W. B.
<strong>Molecular dissection of a contiguous gene syndrome: frequent submicroscopic deletions, evolutionarily conserved sequences, and a hypomethylated &#x27;island&#x27; in the Miller-Dieker chromosome region.</strong>
Proc. Nat. Acad. Sci. 86: 5136-5140, 1989.
[PubMed: 2740347]
[Full Text: https://doi.org/10.1073/pnas.86.13.5136]
</p>
</li>
<li>
<p class="mim-text-font">
Ledbetter, S. A., Kuwano, A., Dobyns, W. B., Ledbetter, D. H.
<strong>Microdeletions of chromosome 17p13 as a cause of isolated lissencephaly.</strong>
Am. J. Hum. Genet. 50: 182-189, 1992.
[PubMed: 1346078]
</p>
</li>
<li>
<p class="mim-text-font">
Masuno, M., Imaizumi, K., Nakamura, M., Matsui, K., Goto, A., Kuroki, Y.
<strong>Miller-Dieker syndrome due to maternal cryptic translocation t(10;17)(q26.3;p13.3).</strong>
Am. J. Med. Genet. 59: 441-443, 1995.
[PubMed: 8585563]
[Full Text: https://doi.org/10.1002/ajmg.1320590409]
</p>
</li>
<li>
<p class="mim-text-font">
McKusick, V. A.
<strong>Personal Communication.</strong>
Baltimore, Md. 1996.
</p>
</li>
<li>
<p class="mim-text-font">
Mignon-Ravix, C., Cacciagli, P., El-Waly, B., Mencla, A., Milh, M., Girard, N., Chabrol, B., Philip, N., Villard, L.
<strong>Deletion of YWHAE in a patient with periventricular heterotopias and pronounced corpus callosum hypoplasia.</strong>
J. Med. Genet. 47: 132-136, 2009.
[PubMed: 19635726]
[Full Text: https://doi.org/10.1136/jmg.2009.069112]
</p>
</li>
<li>
<p class="mim-text-font">
Miller, J. Q.
<strong>Lissencephaly in 2 siblings.</strong>
Neurology 13: 841-850, 1963.
[PubMed: 14066999]
[Full Text: https://doi.org/10.1212/wnl.13.10.841]
</p>
</li>
<li>
<p class="mim-text-font">
Nagamani, S. C. S., Zhang, F., Shchelochkov, O. A., Bi, W., Ou, Z., Scaglia, F., Probst, F. J., Shinawi, M., Eng, C., Hunter, J. V., Sparagana, S., Lagoe, E., and 13 others.
<strong>Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment.</strong>
J. Med. Genet. 46: 825-833, 2009.
[PubMed: 19584063]
[Full Text: https://doi.org/10.1136/jmg.2009.067637]
</p>
</li>
<li>
<p class="mim-text-font">
Neer, E. J., Schmidt, C. J., Smith, T.
<strong>LIS is more.</strong>
Nature Genet. 5: 3-4, 1993.
[PubMed: 8220419]
[Full Text: https://doi.org/10.1038/ng0993-3]
</p>
</li>
<li>
<p class="mim-text-font">
Norman, M. G., Roberts, M., Sirois, J., Tremblay, L. J. M.
<strong>Lissencephaly.</strong>
Canad. J. Neurol. Sci. 3: 39-46, 1976.
[PubMed: 175907]
[Full Text: https://doi.org/10.1017/s0317167100025981]
</p>
</li>
<li>
<p class="mim-text-font">
Oostra, B. A., de Rijk-van Andel, J. F., Eussen, H. J., van Hemel, J. O., Halley, D. J. J., Niermeijer, M. F.
<strong>DNA analysis in patients with lissencephaly type I and other cortical dysplasias.</strong>
Am. J. Med. Genet. 40: 383-386, 1991.
[PubMed: 1951447]
[Full Text: https://doi.org/10.1002/ajmg.1320400328]
</p>
</li>
<li>
<p class="mim-text-font">
Pollin, T. I., Dobyns, W. B., Crowe, C. A., Ledbetter, D. H., Bailey-Wilson, J. E., Smith, A. C. M.
<strong>Risk of abnormal pregnancy outcome in carriers of balanced reciprocal translocations involving the Miller-Dieker syndrome (MDS) critical region in chromosome 17p13.3.</strong>
Am. J. Med. Genet. 85: 369-375, 1999.
[PubMed: 10398263]
</p>
</li>
<li>
<p class="mim-text-font">
Reiner, O., Carrozzo, R., Shen, Y., Wehnert, M., Faustinella, F., Dobyns, W. B., Caskey, C. T., Ledbetter, D. H.
<strong>Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats.</strong>
Nature 364: 717-721, 1993.
[PubMed: 8355785]
[Full Text: https://doi.org/10.1038/364717a0]
</p>
</li>
<li>
<p class="mim-text-font">
Reznik, M., Alberca-Serrano, R.
<strong>Forme familiale d&#x27;hypertelorisme avec lissencephalie se presentant cliniquement sous forme d&#x27;une arrieration mentale avec epilepsie et paraplegie spasmodique.</strong>
J. Neurol. Sci. 1: 40-58, 1964.
[PubMed: 14174045]
[Full Text: https://doi.org/10.1016/0022-510x(64)90053-x]
</p>
</li>
<li>
<p class="mim-text-font">
Schinzel, A.
<strong>Microdeletion syndromes, balanced translocations, and gene mapping.</strong>
J. Med. Genet. 25: 454-462, 1988.
[PubMed: 3050093]
[Full Text: https://doi.org/10.1136/jmg.25.7.454]
</p>
</li>
<li>
<p class="mim-text-font">
Schwartz, C. E., Johnson, J. P., Holycross, B., Mandeville, T. M., Sears, T. S., Graul, E. A., Carey, J. C., Schroer, R. J., Phelan, M. C., Szollar, J., Flannery, D. B., Stevenson, R. E.
<strong>Detection of submicroscopic deletions in band 17p13 in patients with the Miller-Dieker syndrome.</strong>
Am. J. Hum. Genet. 43: 597-604, 1988.
[PubMed: 2903661]
</p>
</li>
<li>
<p class="mim-text-font">
Selypes, A., Laszlo, A.
<strong>Miller-Dieker syndrome and monosomy 17p13: a new case.</strong>
Hum. Genet. 80: 103-104, 1988.
[PubMed: 3417298]
[Full Text: https://doi.org/10.1007/BF00451469]
</p>
</li>
<li>
<p class="mim-text-font">
Sharief, N., Craze, J., Summers, D., Butler, L., Wood, C. B. S.
<strong>Miller-Dieker syndrome with ring chromosome 17.</strong>
Arch. Dis. Child. 66: 710-712, 1991.
[PubMed: 1711306]
[Full Text: https://doi.org/10.1136/adc.66.6.710]
</p>
</li>
<li>
<p class="mim-text-font">
Stratton, R. F., Dobyns, W. B., Airhart, S. D., Ledbetter, D. H.
<strong>New chromosomal syndrome: Miller-Dieker syndrome and monosomy 17p13.</strong>
Hum. Genet. 67: 193-200, 1984.
[PubMed: 6745939]
[Full Text: https://doi.org/10.1007/BF00273000]
</p>
</li>
<li>
<p class="mim-text-font">
Toyo-oka, K., Hirotsune, S., Gambello, M. J., Zhou, Z.-Q., Olson, L., Rosenfeld, M. G., Eisenman, R., Hurlin, P., Wynshaw-Boris, A.
<strong>Loss of the Max-interacting protein Mnt in mice results in decreased viability, defective embryonic growth and craniofacial defects: relevance to Miller-Dieker syndrome.</strong>
Hum. Molec. Genet. 13: 1057-1067, 2004.
[PubMed: 15028671]
[Full Text: https://doi.org/10.1093/hmg/ddh116]
</p>
</li>
<li>
<p class="mim-text-font">
Toyo-oka, K., Shionoya, A., Gambello, M. J., Cardoso, C., Leventer, R., Ward, H. L., Ayala, R., Tsai, L.-H., Dobyns, W., Ledbetter, D., Hirotsune, S., Wynshaw-Boris, A.
<strong>14-3-3-epsilon is important for neuronal migration by binding to NUDEL: a molecular explanation for Miller-Dieker syndrome.</strong>
Nature Genet. 34: 274-285, 2003.
[PubMed: 12796778]
[Full Text: https://doi.org/10.1038/ng1169]
</p>
</li>
<li>
<p class="mim-text-font">
vanTuinen, P., Dobyns, W. B., Rich, D. C., Summers, K. M., Robinson, T. J., Nakamura, Y., Ledbetter, D. H.
<strong>Molecular detection of microscopic and submicroscopic deletions associated with Miller-Dieker syndrome.</strong>
Am. J. Hum. Genet. 43: 587-596, 1988.
[PubMed: 3189330]
</p>
</li>
<li>
<p class="mim-text-font">
vanTuinen, P., Ledbetter, D. H.
<strong>Construction and utilization of a detailed somatic cell hybrid mapping panel for human chromosome 17: localization of an anonymous clone to the critical region of Miller-Dieker syndrome, deletion 17p13. (Abstract)</strong>
Cytogenet. Cell Genet. 46: 708-709, 1987.
</p>
</li>
<li>
<p class="mim-text-font">
Yingling, J., Toyo-oka, K., Wynshaw-Boris, A.
<strong>Miller-Dieker syndrome: analysis of a human contiguous gene syndrome in the mouse.</strong>
Am. J. Hum. Genet. 73: 475-488, 2003.
[PubMed: 12905154]
[Full Text: https://doi.org/10.1086/378096]
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