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<title>
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Entry
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- #612881 - CHROMOSOME 5q14.3 DELETION SYNDROME, DISTAL
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- OMIM
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<a href="/phenotypicSeries/PS300049"> <strong>Phenotypic Series</strong> </a>
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<a href="#cytogenetics">Cytogenetics</a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=CHROMOSOME 5q14.3 DELETION SYNDROME, DISTAL" 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>
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=2046&Typ=Pat" title="Nodular neuronal heterotopia" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Nodular neuronal heterotop… </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=13909&Typ=Pat" title="Periventricular nodular heterotopia" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Periventricular nodular he… </a></div>
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<div><a href="#mimOrphanetFold" id="mimOrphanetToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="European reference portal for information on rare diseases and orphan drugs."><span id="mimOrphanetToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Orphanet</div>
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2149" title="Nodular neuronal heterotopia" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Nodular neuronal heterotop…</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98892" title="Periventricular nodular heterotopia" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Periventricular nodular he…</a></div>
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<div><a href="https://www.alliancegenome.org/disease/DOID:0050454" 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>
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<div><a href="http://www.informatics.jax.org/disease/612881" 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><a href="https://wormbase.org/resources/disease/DOID:0050454" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<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.">
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<a id="number" class="mim-anchor"></a>
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 2149, 98892<br />
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<strong>DO:</strong> 0050454<br />
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">ICD+</a>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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612881
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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CHROMOSOME 5q14.3 DELETION SYNDROME, DISTAL
|
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</span>
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</h3>
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</div>
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<div>
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<br />
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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HETEROTOPIA, PERIVENTRICULAR, ASSOCIATED WITH CHROMOSOME 5q DELETION<br />
|
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PERIVENTRICULAR NODULAR HETEROTOPIA 5; PVNH5
|
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</span>
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</h4>
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</div>
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</div>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/5/310?start=-3&limit=10&highlight=310">5q14.3-q15</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr5:83500001-98900000&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'})">5:83,500,001-98,900,000</a> </span>
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</em>
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</strong>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
|
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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|
Phenotype <br /> mapping key
|
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</th>
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</tr>
|
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</thead>
|
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<tbody>
|
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|
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<tr>
|
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<td rowspan="1">
|
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<span class="mim-font">
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<a href="/geneMap/5/310?start=-3&limit=10&highlight=310">
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5q14.3-q15
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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Periventricular nodular heterotopia 5
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/612881"> 612881 </a>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="4 - A contiguous gene duplication or deletion syndrome in which multiple genes are involved">4</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
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<a href="/phenotypicSeries/PS300049" 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>
|
|
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|
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|
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<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/612881" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/612881" 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>
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<div>
|
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<p />
|
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</div>
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|
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<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
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<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Periventricular nodular heterotopia
|
|
- <a href="/phenotypicSeries/PS300049">PS300049</a>
|
|
- 8 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/1/1770?start=-3&limit=10&highlight=1770"> 1q42.13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618185"> Periventricular nodular heterotopia 8 </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/618185"> 618185 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/103180"> ARF1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/103180"> 103180 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/5/62?start=-3&limit=10&highlight=62"> 5p15.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608098"> Periventricular nodular heterotopia 3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608098"> 608098 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608098"> PVNH3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608098"> 608098 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/5/239?start=-3&limit=10&highlight=239"> 5q13.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618918"> Periventricular nodular heterotopia 9 </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/618918"> 618918 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/157129"> MAP1B </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/157129"> 157129 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/5/310?start=-3&limit=10&highlight=310"> 5q14.3-q15 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612881"> Periventricular nodular heterotopia 5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</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/612881"> 612881 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612881"> PVNH5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612881"> 612881 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/6/1037?start=-3&limit=10&highlight=1037"> 6q27 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615544"> ?Periventricular nodular heterotopia 6 </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/615544"> 615544 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615532"> ERMARD </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615532"> 615532 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/18/209?start=-3&limit=10&highlight=209"> 18q21.31 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617201"> Periventricular nodular heterotopia 7 </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/617201"> 617201 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606384"> NEDD4L </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606384"> 606384 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/20/369?start=-3&limit=10&highlight=369"> 20q13.13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608097"> Periventricular heterotopia 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/608097"> 608097 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605371"> ARFGEF2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605371"> 605371 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/857?start=-3&limit=10&highlight=857"> Xq28 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300049"> Heterotopia, periventricular, 1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked dominant">XLD</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/300049"> 300049 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300017"> FLNA </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300017"> 300017 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="text-right small">
|
|
<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
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|
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|
|
</div>
|
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|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
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<p><a href="#3" class="mim-tip-reference" title="Cardoso, C., Boys, A., Parrini, E., Mignon-Ravix, C., McMahon, J. M., Khantane, S., Bertini, E., Pallesi, E., Missirian, C., Zuffardi, O., Novara, F., Villard, L., Giglio, S., Chabrol, B., Slater, H. R., Moncla, A., Scheffer, I. E., Guerrini, R. <strong>Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion.</strong> Neurology 72: 784-792, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19073947/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19073947</a>] [<a href="https://doi.org/10.1212/01.wnl.0000336339.08878.2d" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19073947">Cardoso et al. (2009)</a> reported 3 unrelated children, 2 boys and a girl, with severe mental retardation, epilepsy, and bilateral periventricular heterotopia limited to the subependymal region of the temporal and occipital horns of the lateral ventricles. Other features included hypotonia, delayed motor development, no speech acquisition, and minor dysmorphic facial features, such as high forehead, depressed nasal bridge, and hypertelorism. One of the patients also showed polymicrogyria on brain MRI. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19073947" 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>Using array CGH, <a href="#3" class="mim-tip-reference" title="Cardoso, C., Boys, A., Parrini, E., Mignon-Ravix, C., McMahon, J. M., Khantane, S., Bertini, E., Pallesi, E., Missirian, C., Zuffardi, O., Novara, F., Villard, L., Giglio, S., Chabrol, B., Slater, H. R., Moncla, A., Scheffer, I. E., Guerrini, R. <strong>Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion.</strong> Neurology 72: 784-792, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19073947/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19073947</a>] [<a href="https://doi.org/10.1212/01.wnl.0000336339.08878.2d" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19073947">Cardoso et al. (2009)</a> identified a de novo deletion of chromosome 5q14.3-q15 in 3 unrelated patients with periventricular heterotopia. The deletions ranged in size from 6.3 to 17 Mb, and shared a common deleted region spanning 5.8 Mb. Computational analysis of the critical region identified 14 candidate genes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19073947" 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="#5" class="mim-tip-reference" title="Sobreira, N., Walsh, M. F., Batista, D., Wang, T. <strong>Interstitial deletion 5q14.3-q21 associated with iris coloboma, hearing loss, dental anomaly, moderate intellectual disability, and attention deficit and hyperactivity disorder.</strong> Am. J. Med. Genet. 149A: 2581-2583, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19876902/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19876902</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19876902[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/ajmg.a.33079" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19876902">Sobreira et al. (2009)</a> identified a 7.4-Mb deletion on chromosome 5q14.3-q21 (chr5:90,787,099-98,232,469, NCBI36) in an 11-year-old boy with intellectual disability, bilateral iris coloboma, hearing loss, dental anomaly, and dysmorphic facial features (<a href="/entry/613443">613443</a>), but without periventricular heterotopia. <a href="#5" class="mim-tip-reference" title="Sobreira, N., Walsh, M. F., Batista, D., Wang, T. <strong>Interstitial deletion 5q14.3-q21 associated with iris coloboma, hearing loss, dental anomaly, moderate intellectual disability, and attention deficit and hyperactivity disorder.</strong> Am. J. Med. Genet. 149A: 2581-2583, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19876902/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19876902</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19876902[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/ajmg.a.33079" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19876902">Sobreira et al. (2009)</a> referred to the report by <a href="#3" class="mim-tip-reference" title="Cardoso, C., Boys, A., Parrini, E., Mignon-Ravix, C., McMahon, J. M., Khantane, S., Bertini, E., Pallesi, E., Missirian, C., Zuffardi, O., Novara, F., Villard, L., Giglio, S., Chabrol, B., Slater, H. R., Moncla, A., Scheffer, I. E., Guerrini, R. <strong>Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion.</strong> Neurology 72: 784-792, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19073947/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19073947</a>] [<a href="https://doi.org/10.1212/01.wnl.0000336339.08878.2d" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19073947">Cardoso et al. (2009)</a>, who identified a deleted region on the overlapping region 5q14 in patients with periventricular heterotopia. One of those patients had a unilateral coloboma and shared part of the deletion with the patient reported by <a href="#5" class="mim-tip-reference" title="Sobreira, N., Walsh, M. F., Batista, D., Wang, T. <strong>Interstitial deletion 5q14.3-q21 associated with iris coloboma, hearing loss, dental anomaly, moderate intellectual disability, and attention deficit and hyperactivity disorder.</strong> Am. J. Med. Genet. 149A: 2581-2583, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19876902/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19876902</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19876902[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/ajmg.a.33079" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19876902">Sobreira et al. (2009)</a>. Comparison of the shared deleted regions between the 2 patients delineated a putative 2.6-Mb region for coloboma (95,538,699-98,232,465 bp) and a putative 1.84-Mb region for periventricular heterotopia (88,945,075-90,787,099 bp). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=19876902+19073947" 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="Le Meur, N., Holder-Espinasse, M., Jaillard, S., Goldenberg, A., Joriot, S., Amati-Bonneau, P., Guichet, A., Barth, M., Charollais, A., Journel, H., Auvin, S., Boucher, C., Kerckaert, J.-P., David, V., Manouvrier-Hanu, S., Saugier-Veber, P., Frebourg, T., Dubourg, C., Andrieux, J., Bonneau, D. <strong>MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations.</strong> J. Med. Genet. 47: 22-29, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19592390/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19592390</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19592390[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmg.2009.069732" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19592390">Le Meur et al. (2010)</a> reported 5 unrelated children with severe mental retardation, absent speech, and stereotypic movements (<a href="/entry/613443">613443</a>) who each had a different interstitial de novo deletion of chromosome 5q14 ranging in size from 216 kb to 8.8 Mb. The minimal common deleted region contained only the MEF2C gene (<a href="/entry/600662">600662</a>). <a href="#4" class="mim-tip-reference" title="Le Meur, N., Holder-Espinasse, M., Jaillard, S., Goldenberg, A., Joriot, S., Amati-Bonneau, P., Guichet, A., Barth, M., Charollais, A., Journel, H., Auvin, S., Boucher, C., Kerckaert, J.-P., David, V., Manouvrier-Hanu, S., Saugier-Veber, P., Frebourg, T., Dubourg, C., Andrieux, J., Bonneau, D. <strong>MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations.</strong> J. Med. Genet. 47: 22-29, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19592390/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19592390</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19592390[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmg.2009.069732" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19592390">Le Meur et al. (2010)</a> noted that the 5q14 region partially overlapped with that deleted in patients with periventricular heterotopia reported by <a href="#3" class="mim-tip-reference" title="Cardoso, C., Boys, A., Parrini, E., Mignon-Ravix, C., McMahon, J. M., Khantane, S., Bertini, E., Pallesi, E., Missirian, C., Zuffardi, O., Novara, F., Villard, L., Giglio, S., Chabrol, B., Slater, H. R., Moncla, A., Scheffer, I. E., Guerrini, R. <strong>Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion.</strong> Neurology 72: 784-792, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19073947/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19073947</a>] [<a href="https://doi.org/10.1212/01.wnl.0000336339.08878.2d" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19073947">Cardoso et al. (2009)</a>, but that only 1 of those patients had deletion of the MEF2C gene. Moreover, none of the patients reported by <a href="#4" class="mim-tip-reference" title="Le Meur, N., Holder-Espinasse, M., Jaillard, S., Goldenberg, A., Joriot, S., Amati-Bonneau, P., Guichet, A., Barth, M., Charollais, A., Journel, H., Auvin, S., Boucher, C., Kerckaert, J.-P., David, V., Manouvrier-Hanu, S., Saugier-Veber, P., Frebourg, T., Dubourg, C., Andrieux, J., Bonneau, D. <strong>MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations.</strong> J. Med. Genet. 47: 22-29, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19592390/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19592390</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19592390[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmg.2009.069732" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19592390">Le Meur et al. (2010)</a> had periventricular heterotopia. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=19073947+19592390" 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="#1" class="mim-tip-reference" title="Al-Kateb, H., Shimony, J. S., Vineyard, M., Manwaring, L., Kulkarni, S., Shinawi, M. <strong>NR2F1 haploinsufficiency is associated with optic atrophy, dysmorphism and global developmental delay. (Letter)</strong> Am. J. Med. Genet. 161A: 377-381, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23300014/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23300014</a>] [<a href="https://doi.org/10.1002/ajmg.a.35650" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23300014">Al-Kateb et al. (2013)</a> reported an 8-year-old boy with a de novo 582-kb deletion on chromosome 5q15 (chr5:92,742,875-93,324,350, hg18), which included 5 genes. They compared the findings in their patient with those in the 3 patients reported by <a href="#3" class="mim-tip-reference" title="Cardoso, C., Boys, A., Parrini, E., Mignon-Ravix, C., McMahon, J. M., Khantane, S., Bertini, E., Pallesi, E., Missirian, C., Zuffardi, O., Novara, F., Villard, L., Giglio, S., Chabrol, B., Slater, H. R., Moncla, A., Scheffer, I. E., Guerrini, R. <strong>Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion.</strong> Neurology 72: 784-792, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19073947/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19073947</a>] [<a href="https://doi.org/10.1212/01.wnl.0000336339.08878.2d" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19073947">Cardoso et al. (2009)</a> and the patient reported by <a href="#2" class="mim-tip-reference" title="Brown, K. K., Alkuraya, F. S., Matos, M., Robertson, R. L., Kimonis, V. E., Morton, C. C. <strong>NR2F1 deletion in a patient with a de novo paracentric inversion, inv(5)(q15q33.2), and syndromic deafness.</strong> Am. J. Med. Genet. 149A: 931-938, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19353646/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19353646</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19353646[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/ajmg.a.32764" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19353646">Brown et al. (2009)</a>, all of whom shared a minimal overlapping region of about 230 kb (chr5:92,742,875-92,972,632) encompassing 2 genes: FLJ42709 and NR2F1 (<a href="/entry/132890">132890</a>). All 5 patients had developmental delay and facial dysmorphic features, 4 had hypotonia, and 3 had ophthalmologic abnormalities. Ureteropelvic obstruction was observed only in their patient. Periventricular heterotopia was present only in the patients reported by <a href="#3" class="mim-tip-reference" title="Cardoso, C., Boys, A., Parrini, E., Mignon-Ravix, C., McMahon, J. M., Khantane, S., Bertini, E., Pallesi, E., Missirian, C., Zuffardi, O., Novara, F., Villard, L., Giglio, S., Chabrol, B., Slater, H. R., Moncla, A., Scheffer, I. E., Guerrini, R. <strong>Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion.</strong> Neurology 72: 784-792, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19073947/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19073947</a>] [<a href="https://doi.org/10.1212/01.wnl.0000336339.08878.2d" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19073947">Cardoso et al. (2009)</a>. <a href="#1" class="mim-tip-reference" title="Al-Kateb, H., Shimony, J. S., Vineyard, M., Manwaring, L., Kulkarni, S., Shinawi, M. <strong>NR2F1 haploinsufficiency is associated with optic atrophy, dysmorphism and global developmental delay. (Letter)</strong> Am. J. Med. Genet. 161A: 377-381, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23300014/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23300014</a>] [<a href="https://doi.org/10.1002/ajmg.a.35650" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23300014">Al-Kateb et al. (2013)</a> suggested that NR2F1 was the strongest candidate gene for the overlapping phenotypes. Heterozygous mutations in the NR2F1 gene have been identified in patients with Bosch-Boostra-Schaaf optic atrophy syndrome (<a href="/entry/615722">615722</a>), characterized by developmental delay, moderate intellectual disability, and optic atrophy. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=19073947+19353646+23300014" 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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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23300014/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23300014</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23300014" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.35650" target="_blank">Full Text</a>]
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</p>
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<a id="2" class="mim-anchor"></a>
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<a id="Brown2009" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Brown, K. K., Alkuraya, F. S., Matos, M., Robertson, R. L., Kimonis, V. E., Morton, C. C.
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<strong>NR2F1 deletion in a patient with a de novo paracentric inversion, inv(5)(q15q33.2), and syndromic deafness.</strong>
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Am. J. Med. Genet. 149A: 931-938, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19353646/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19353646</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19353646[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=19353646" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.32764" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="3" class="mim-anchor"></a>
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<a id="Cardoso2009" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Cardoso, C., Boys, A., Parrini, E., Mignon-Ravix, C., McMahon, J. M., Khantane, S., Bertini, E., Pallesi, E., Missirian, C., Zuffardi, O., Novara, F., Villard, L., Giglio, S., Chabrol, B., Slater, H. R., Moncla, A., Scheffer, I. E., Guerrini, R.
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<strong>Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion.</strong>
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Neurology 72: 784-792, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19073947/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19073947</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19073947" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1212/01.wnl.0000336339.08878.2d" target="_blank">Full Text</a>]
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<a id="Le Meur2010" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Le Meur, N., Holder-Espinasse, M., Jaillard, S., Goldenberg, A., Joriot, S., Amati-Bonneau, P., Guichet, A., Barth, M., Charollais, A., Journel, H., Auvin, S., Boucher, C., Kerckaert, J.-P., David, V., Manouvrier-Hanu, S., Saugier-Veber, P., Frebourg, T., Dubourg, C., Andrieux, J., Bonneau, D.
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<strong>MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations.</strong>
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J. Med. Genet. 47: 22-29, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19592390/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19592390</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19592390[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=19592390" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmg.2009.069732" target="_blank">Full Text</a>]
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<a id="Sobreira2009" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sobreira, N., Walsh, M. F., Batista, D., Wang, T.
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<strong>Interstitial deletion 5q14.3-q21 associated with iris coloboma, hearing loss, dental anomaly, moderate intellectual disability, and attention deficit and hyperactivity disorder.</strong>
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Am. J. Med. Genet. 149A: 2581-2583, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19876902/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19876902</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19876902[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=19876902" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.33079" target="_blank">Full Text</a>]
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Ada Hamosh - updated : 06/17/2015
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 2/10/2011<br>Cassandra L. Kniffin - updated : 6/15/2010
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin : 6/29/2009
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 09/17/2024
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<div class="row collapse" id="mimCollapseEditHistory">
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<span class="mim-text-font">
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carol : 10/21/2016<br>carol : 06/17/2015<br>alopez : 2/10/2015<br>carol : 4/1/2014<br>carol : 3/16/2012<br>wwang : 4/14/2011<br>ckniffin : 2/10/2011<br>wwang : 6/22/2010<br>ckniffin : 6/15/2010<br>wwang : 7/24/2009<br>ckniffin : 6/29/2009
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<span class="mim-font">
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<strong>#</strong> 612881
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<div>
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<h3>
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CHROMOSOME 5q14.3 DELETION SYNDROME, DISTAL
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</h3>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<h4>
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<span class="mim-font">
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HETEROTOPIA, PERIVENTRICULAR, ASSOCIATED WITH CHROMOSOME 5q DELETION<br />
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PERIVENTRICULAR NODULAR HETEROTOPIA 5; PVNH5
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<strong>ORPHA:</strong> 2149, 98892;
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<strong>DO:</strong> 0050454;
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<strong>
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<em>
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Cytogenetic location: 5q14.3-q15
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Genomic coordinates <span class="small">(GRCh38)</span> : 5:83,500,001-98,900,000 </span>
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</em>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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Location
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Phenotype
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<th>
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Phenotype <br /> MIM number
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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<td rowspan="1">
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<span class="mim-font">
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5q14.3-q15
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<span class="mim-font">
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Periventricular nodular heterotopia 5
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<span class="mim-font">
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612881
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<span class="mim-font">
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<span class="mim-font">
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4
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<span class="mim-font">
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<strong>TEXT</strong>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because it represents a contiguous gene deletion syndrome.</p>
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<h4>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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<span class="mim-text-font">
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<p>Cardoso et al. (2009) reported 3 unrelated children, 2 boys and a girl, with severe mental retardation, epilepsy, and bilateral periventricular heterotopia limited to the subependymal region of the temporal and occipital horns of the lateral ventricles. Other features included hypotonia, delayed motor development, no speech acquisition, and minor dysmorphic facial features, such as high forehead, depressed nasal bridge, and hypertelorism. One of the patients also showed polymicrogyria on brain MRI. </p>
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<span class="mim-font">
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<strong>Cytogenetics</strong>
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<span class="mim-text-font">
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<p>Using array CGH, Cardoso et al. (2009) identified a de novo deletion of chromosome 5q14.3-q15 in 3 unrelated patients with periventricular heterotopia. The deletions ranged in size from 6.3 to 17 Mb, and shared a common deleted region spanning 5.8 Mb. Computational analysis of the critical region identified 14 candidate genes. </p><p>Sobreira et al. (2009) identified a 7.4-Mb deletion on chromosome 5q14.3-q21 (chr5:90,787,099-98,232,469, NCBI36) in an 11-year-old boy with intellectual disability, bilateral iris coloboma, hearing loss, dental anomaly, and dysmorphic facial features (613443), but without periventricular heterotopia. Sobreira et al. (2009) referred to the report by Cardoso et al. (2009), who identified a deleted region on the overlapping region 5q14 in patients with periventricular heterotopia. One of those patients had a unilateral coloboma and shared part of the deletion with the patient reported by Sobreira et al. (2009). Comparison of the shared deleted regions between the 2 patients delineated a putative 2.6-Mb region for coloboma (95,538,699-98,232,465 bp) and a putative 1.84-Mb region for periventricular heterotopia (88,945,075-90,787,099 bp). </p><p>Le Meur et al. (2010) reported 5 unrelated children with severe mental retardation, absent speech, and stereotypic movements (613443) who each had a different interstitial de novo deletion of chromosome 5q14 ranging in size from 216 kb to 8.8 Mb. The minimal common deleted region contained only the MEF2C gene (600662). Le Meur et al. (2010) noted that the 5q14 region partially overlapped with that deleted in patients with periventricular heterotopia reported by Cardoso et al. (2009), but that only 1 of those patients had deletion of the MEF2C gene. Moreover, none of the patients reported by Le Meur et al. (2010) had periventricular heterotopia. </p><p>Al-Kateb et al. (2013) reported an 8-year-old boy with a de novo 582-kb deletion on chromosome 5q15 (chr5:92,742,875-93,324,350, hg18), which included 5 genes. They compared the findings in their patient with those in the 3 patients reported by Cardoso et al. (2009) and the patient reported by Brown et al. (2009), all of whom shared a minimal overlapping region of about 230 kb (chr5:92,742,875-92,972,632) encompassing 2 genes: FLJ42709 and NR2F1 (132890). All 5 patients had developmental delay and facial dysmorphic features, 4 had hypotonia, and 3 had ophthalmologic abnormalities. Ureteropelvic obstruction was observed only in their patient. Periventricular heterotopia was present only in the patients reported by Cardoso et al. (2009). Al-Kateb et al. (2013) suggested that NR2F1 was the strongest candidate gene for the overlapping phenotypes. Heterozygous mutations in the NR2F1 gene have been identified in patients with Bosch-Boostra-Schaaf optic atrophy syndrome (615722), characterized by developmental delay, moderate intellectual disability, and optic atrophy. </p>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<ol>
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<p class="mim-text-font">
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Al-Kateb, H., Shimony, J. S., Vineyard, M., Manwaring, L., Kulkarni, S., Shinawi, M.
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<strong>NR2F1 haploinsufficiency is associated with optic atrophy, dysmorphism and global developmental delay. (Letter)</strong>
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Am. J. Med. Genet. 161A: 377-381, 2013.
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[PubMed: 23300014]
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[Full Text: https://doi.org/10.1002/ajmg.a.35650]
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<p class="mim-text-font">
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Brown, K. K., Alkuraya, F. S., Matos, M., Robertson, R. L., Kimonis, V. E., Morton, C. C.
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<strong>NR2F1 deletion in a patient with a de novo paracentric inversion, inv(5)(q15q33.2), and syndromic deafness.</strong>
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Am. J. Med. Genet. 149A: 931-938, 2009.
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[PubMed: 19353646]
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[Full Text: https://doi.org/10.1002/ajmg.a.32764]
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Cardoso, C., Boys, A., Parrini, E., Mignon-Ravix, C., McMahon, J. M., Khantane, S., Bertini, E., Pallesi, E., Missirian, C., Zuffardi, O., Novara, F., Villard, L., Giglio, S., Chabrol, B., Slater, H. R., Moncla, A., Scheffer, I. E., Guerrini, R.
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<strong>Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion.</strong>
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Neurology 72: 784-792, 2009.
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[PubMed: 19073947]
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[Full Text: https://doi.org/10.1212/01.wnl.0000336339.08878.2d]
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Le Meur, N., Holder-Espinasse, M., Jaillard, S., Goldenberg, A., Joriot, S., Amati-Bonneau, P., Guichet, A., Barth, M., Charollais, A., Journel, H., Auvin, S., Boucher, C., Kerckaert, J.-P., David, V., Manouvrier-Hanu, S., Saugier-Veber, P., Frebourg, T., Dubourg, C., Andrieux, J., Bonneau, D.
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<strong>MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations.</strong>
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J. Med. Genet. 47: 22-29, 2010.
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[PubMed: 19592390]
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[Full Text: https://doi.org/10.1136/jmg.2009.069732]
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Sobreira, N., Walsh, M. F., Batista, D., Wang, T.
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<strong>Interstitial deletion 5q14.3-q21 associated with iris coloboma, hearing loss, dental anomaly, moderate intellectual disability, and attention deficit and hyperactivity disorder.</strong>
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Am. J. Med. Genet. 149A: 2581-2583, 2009.
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[PubMed: 19876902]
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[Full Text: https://doi.org/10.1002/ajmg.a.33079]
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Ada Hamosh - updated : 06/17/2015<br>Cassandra L. Kniffin - updated : 2/10/2011<br>Cassandra L. Kniffin - updated : 6/15/2010
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Cassandra L. Kniffin : 6/29/2009
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alopez : 09/17/2024<br>carol : 10/21/2016<br>carol : 06/17/2015<br>alopez : 2/10/2015<br>carol : 4/1/2014<br>carol : 3/16/2012<br>wwang : 4/14/2011<br>ckniffin : 2/10/2011<br>wwang : 6/22/2010<br>ckniffin : 6/15/2010<br>wwang : 7/24/2009<br>ckniffin : 6/29/2009
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