2630 lines
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Entry
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- #613735 - BRAIN MALFORMATIONS WITH OR WITHOUT URINARY TRACT DEFECTS; BRMUTD
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- OMIM
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<span class="h4">#613735</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/613735"><strong>Clinical Synopsis</strong></a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#cytogenetics">Cytogenetics</a>
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<a href="#molecularGenetics">Molecular Genetics</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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<a href="#editHistory"><strong>Edit History</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=BRAIN MALFORMATIONS WITH OR WITHOUT URINARY TRACT DEFECTS" 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><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=22863&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>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK542336/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=401986" 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>
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<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/0201b359-31e3-4b3c-ad8a-e5c3b5ccd18d/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 style="display: table-cell;">Animal Models</div>
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<div><a href="https://www.alliancegenome.org/disease/DOID:0060409" 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/613735" 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:0060409" 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="title" class="mim-anchor"></a>
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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> 401986<br />
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<strong>DO:</strong> 0060409<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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613735
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</span>
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</span>
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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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BRAIN MALFORMATIONS WITH OR WITHOUT URINARY TRACT DEFECTS; BRMUTD
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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="includedTitles" class="mim-anchor"></a>
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<p>
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<span class="mim-font">
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Other entities represented in this entry:
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</p>
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</div>
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<div>
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<span class="h3 mim-font">
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CHROMOSOME 1p32-p31 DELETION SYNDROME, INCLUDED
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<div>
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<br />
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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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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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/1/669?start=-3&limit=10&highlight=669">
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1p31.3
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</a>
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</td>
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<td>
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<span class="mim-font">
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Brain malformations with or without urinary tract defects
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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/613735"> 613735 </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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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
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NFIA
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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/600727"> 600727 </a>
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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 class="btn-group ">
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<a href="/clinicalSynopsis/613735" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<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')">
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
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<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/613735" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
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<li><a href="/graph/radial/613735" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</div>
|
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<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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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
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<div class="small" style="margin: 5px">
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> INHERITANCE </strong>
|
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</span>
|
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</div>
|
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- 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 />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
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</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<em> Head </em>
|
|
</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Macrocephaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/12138000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">12138000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1145403003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1145403003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q75.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q75.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221355&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221355</a>, <a href="https://bioportal.bioontology.org/search?q=C2243051&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2243051</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000256" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000256</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001355" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001355</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000256" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000256</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=dd989bb153739761147ef05dc870b050" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Macrocephaly-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=dd989bb153739761147ef05dc870b050" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
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|
|
</span>
|
|
</div>
|
|
</div>
|
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<em> Face </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Broad face <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859680&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859680</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000283" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000283</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000283" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000283</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=05f39697d4d404f202642b22ec0eec6f" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Face,Broad-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=05f39697d4d404f202642b22ec0eec6f" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
|
|
Broad forehead <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849089&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849089</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000337" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000337</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000337" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000337</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=40e77945a1b2a5742a89317aeb604f00" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Forehead,Broad-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=40e77945a1b2a5742a89317aeb604f00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
|
|
Small chin <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839323&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839323</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000331" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000331</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000331" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000331</a>]</span><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="<img src="https://elementsofmorphology.nih.gov/images/terms/Ear,Low-Set-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=9f0956aaa4fd45c34f94336afbbdc931" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
|
|
Dysplastic helices <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3552982&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3552982</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="<img src="https://elementsofmorphology.nih.gov/images/terms/Nose,Short-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=25661c4279536e7705f328dbb0964878" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
|
|
Anteverted nostrils <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 />
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|
|
</span>
|
|
</div>
|
|
</div>
|
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|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Mouth </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Small mouth <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/14582003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">14582003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q18.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q18.5</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/744.84" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">744.84</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026034&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026034</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000160" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000160</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000160" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000160</a>]</span><br /> -
|
|
Thin 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 />
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|
|
|
</span>
|
|
</div>
|
|
</div>
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</div>
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</div>
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GENITOURINARY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Kidneys </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Urinary tract defects <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4478942&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4478942</a>]</span><br /> -
|
|
Hypoplastic kidneys <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/32659003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">32659003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q60.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q60.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266295&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266295</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000089" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000089</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000089" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000089</a>]</span><br /> -
|
|
Hydronephrosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/43064006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">43064006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N13.30" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N13.30</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/591" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">591</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020295&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020295</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000126" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000126</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000126" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000126</a>]</span><br />
|
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</span>
|
|
</div>
|
|
</div>
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<div>
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|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Bladder </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Vesicoureteral reflux (variable) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3552981&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3552981</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/197811007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">197811007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N13.70" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N13.70</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/N13.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N13.7</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/593.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">593.7</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000076" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000076</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKIN, NAILS, & HAIR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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<div>
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<div>
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|
<span class="h5 mim-font">
|
|
<em> Skin </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Cutis marmorata <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/26825009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">26825009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0263401&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0263401</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000965" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000965</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000965" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000965</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MUSCLE, SOFT TISSUES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
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<div>
|
|
<span class="mim-font">
|
|
|
|
- Hypotonia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398151007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398151007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398152000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398152000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026827&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026827</a>, <a href="https://bioportal.bioontology.org/search?q=C1858120&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1858120</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001290" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001290</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001252</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001252</a>]</span><br /> -
|
|
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 />
|
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|
</span>
|
|
</div>
|
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|
|
</div>
|
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|
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</div>
|
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|
|
<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">
|
|
|
|
- Global developmental delay <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/224958001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">224958001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F88" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F88</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0557874&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0557874</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001263" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001263</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001263" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001263</a>]</span><br /> -
|
|
Cognitive impairment <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/386806002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">386806002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0338656&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0338656</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100543" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100543</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100543" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100543</a>]</span><br /> -
|
|
Intellectual disability <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> 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 /> -
|
|
Seizures (in some patients) <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 /> -
|
|
Hypoplasia of the corpus callosum <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204043002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204043002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0344482&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0344482</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002079" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002079</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002079" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002079</a>]</span><br /> -
|
|
Agenesis of the corpus callosum <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/5102002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">5102002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q04.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q04.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0175754&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0175754</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001274" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001274</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001274" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001274</a>]</span><br /> -
|
|
Ventriculomegaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/413808003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">413808003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1531647&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1531647</a>, <a href="https://bioportal.bioontology.org/search?q=C3278923&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3278923</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002119" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002119</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002119" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002119</a>]</span><br /> -
|
|
Chiari I malformation (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253185002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253185002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0750929&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0750929</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007099" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007099</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007099" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007099</a>]</span><br /> -
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- Variable phenotype <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837514&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837514</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003812" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003812</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003812" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003812</a>]</span><br /> -
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- Caused by mutation in the nuclear factor I/A gene (NFIA, <a href="/entry/600727#0001">600727.0001</a>)<br />
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<p>A number sign (#) is used with this entry because brain malformations with or without urinary tract defects (BRMUTD) is caused by heterozygous mutation in the NFIA gene (<a href="/entry/600727">600727</a>) on chromosome 1p31.</p><p>Some patients with a similar phenotype have larger deletions of chromosome 1p32-p31, including the NFIA gene; this disorder thus represents a contiguous gene deletion syndrome.</p>
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<p><a href="#8" class="mim-tip-reference" title="Rao, A., O'Donnell, S., Bain, N., Meldrum, C., Shorter, D., Goel, H. <strong>An intragenic deletion of the NFIA gene in a patient with a hypoplastic corpus callosum, craniofacial abnormalities and urinary tract defects.</strong> Europ. J. Med. Genet. 57: 65-70, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24462883/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24462883</a>] [<a href="https://doi.org/10.1016/j.ejmg.2013.12.011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24462883">Rao et al. (2014)</a> reported an 8-year-old girl with BRMUTD. She presented at age 7 weeks with failure to thrive and jaundice, and was found to have abnormal craniofacial features, including overfolded helices, large head, metopic synostosis, upslanting palpebral fissures, and broad anteverted nose. At age 3 years, she showed delayed psychomotor development, hypotonia, poor hand/eye coordination, and articulation difficulties. She also had neuropsychologic problems, including attention-deficit hyperactivity disorder; she did not have seizures. Brain imaging showed partial absence of the septum pellucidum, hypoplastic corpus callosum, partial fusion of lateral ventricles, and ventriculomegaly. Urinary involvement included hydronephrosis, possible kinking of the pelviureteric junction, and a single unilateral renal calculus. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24462883" 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="Negishi, Y., Miya, F., Hattori, A., Mizuno, K., Hori, I., Ando, N., Okamoto, N. Kato, M., Tsunoda, T., Yamasaki, M., Kanemura, Y., Kosaki, K., Saitoh, S. <strong>Truncating mutation in NFIA causes brain malformation and urinary tract defects.</strong> Hum. Genome Var. 2: 15007, 2015. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27081522/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27081522</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27081522[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/10.1038/hgv.2015.7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27081522">Negishi et al. (2015)</a> reported a 5-year-old Japanese boy with BRMUTD. He was born with a large head (+3.3 SD), and brain imaging showed interhemispheric cysts, ventricular enlargement, and callosal agenesis; repeat brain imaging a few years later showed polymicrogyria. He had mildly delayed psychomotor development, but no seizures. He did not have significant dysmorphic features. Urinary involvement included hydronephrosis, cystectasia, and vesicoureteral reflux. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27081522" 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="Nyboe, D., Kreiborg, S., Kirchhoff, M., Hove, H. B. <strong>Familial craniosynostosis associated with a microdeletion involving the NFIA gene.</strong> Clin. Dysmorph. 24: 109-112, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25714559/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25714559</a>] [<a href="https://doi.org/10.1097/MCD.0000000000000079" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25714559">Nyboe et al. (2015)</a> reported a family in which 3 sibs and their father had BRMUTD. Brain malformations included hypoplasia of the corpus callosum in all 4, ventriculomegaly in 3, herniation of the cerebellar tonsils in 2, absent falx cerebri in 1, and partial incomplete inversion of the left hippocampi in 1. Two members had renal defects, including 2 small cysts in one and unilateral hydronephrosis and hydrourethra, and a ureterocele in the other. All 4 had macrocephaly, and 3 had craniosynostosis, which was sagittal in 1 and lambdoid in 2. Three had developmental delay. Variable dysmorphic features included overgrowth, bilateral proximally placed first fingers, facial asymmetry, downslanting palpebral fissures, and low-set ears. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25714559" 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 1p32-p31 Deletion Syndrome</em></strong></p><p>
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<a href="#5" class="mim-tip-reference" title="Lu, W., Quintero-Rivera, F., Fan, Y., Alkuraya, F. S., Donovan, D. J., Xi, Q., Turbe-Doan, A., Li, Q.-G., Campbell, C. G., Shanske, A. L., Sherr, E. H., Ahmad, A., and 16 others. <strong>NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects.</strong> PLoS Genet. 3: e80, 2007. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17530927/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17530927</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17530927[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/10.1371/journal.pgen.0030080" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17530927">Lu et al. (2007)</a> reported 5 patients, including 2 half sibs, with a similar neurologic phenotype characterized by hypoplastic or absent corpus callosum, hydrocephalus or ventriculomegaly, and developmental delay. Four patients had a tethered spinal cord, 3 had Chiari type I malformation, and 3 had seizures. In addition, 3 patients had urinary tract defects, including vesicoureteral reflux and urinary incontinence. Other variable features included pigmentary retinopathy, inguinal hernia, cryptorchidism, and skeletal abnormalities, such as polydactyly and congenital hip dysplasia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17530927" 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="Koehler, U., Holinski-Feder, E., Ertl-Wagner, B., Kunz, J., von Moers, A., von Voss, H., Schell-Apacik, C. <strong>A novel 1p31.3p32.2 deletion involving the NFIA gene detected by array CGH in a patient with macrocephaly and hypoplasia of the corpus callosum.</strong> Europ. J. Pediat. 169: 463-468, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19763616/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19763616</a>] [<a href="https://doi.org/10.1007/s00431-009-1057-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19763616">Koehler et al. (2010)</a> reported a 6-month-old girl who presented with muscular hypotonia, macrocephaly, hypoplasia of the corpus callosum, and ventriculomegaly associated with a de novo microdeletion of chromosome 1p: del(1)(p32.2-p31.3). Dysmorphic features included a broad face with a broad, prominent forehead, low-set ears with dysplastic helices, concave profile of the nose, anteverted nostrils, small chin, small mouth with thin upper lip, high palate, sparse eyebrows, and cutis marmorata. There were no apparent renal, ureter, or skeletal abnormalities. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19763616" 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="Labonne, J. D. J., Shen, Y., Kong, I.-K., Diamond, M. P., Layman, L. C., Kim, H.-G. <strong>Comparative deletion mapping at 1p31.3-p32.2 implies NFIA responsible for intellectual disability coupled with macrocephaly and the presence of several other genes for syndromic intellectual disability.</strong> Molec. Cytogenet. 9: 24, 2016. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26997977/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26997977</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26997977[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/10.1186/s13039-016-0234-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26997977">Labonne et al. (2016)</a> reported follow-up of a 22-year-old woman (DGDP005) with chromosome 1p32 deletion syndrome who was originally reported by <a href="#10" class="mim-tip-reference" title="Zinner, S. H., Batanian, J. R. <strong>Second reported patient with del(1)(p32.1p32.3) and similar clinical features suggesting a recognizable chromosomal syndrome.</strong> Am. J. Med. Genet. 122A: 164-167, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12955770/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12955770</a>] [<a href="https://doi.org/10.1002/ajmg.a.20265" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12955770">Zinner and Batanian (2003)</a>. She showed delayed developmental milestones in infancy, and later had cognitive impairment with attention deficit-hyperactivity disorder and obsessive-compulsive disorder. Craniofacial anomalies included macrocephaly, frontal bossing, low-set ears, narrow nose, and thin lips. Other features included ocular hypertension, sleep difficulties, and hypertonia. At age 22, she was diagnosed with subarachnoid and intraventricular hemorrhage as well as an intracerebral aneurysm. Microarray analysis identified a 9.45-Mb deletion at 1p32.2-p31.3 that included at least 35 genes, including NFIA. Analysis of patient cells showed significantly decreased expression of NFIA compared to controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=26997977+12955770" 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="Bayat, A., Kirchhoff, M., Madsen, C. G., Roos, L., Kreiborg, S. <strong>Familial craniofacial abnormality and polymicrogyria associated with a microdeletion affecting the NFIA gene.</strong> Clin. Dysmorph. 26: 148-153, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28452798/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28452798</a>] [<a href="https://doi.org/10.1097/MCD.0000000000000182" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28452798">Bayat et al. (2017)</a> described a 9-year-old girl with macrocephaly, brain anomalies, and dysmorphic features who had a 1-Mb deletion of chromosome 1p32-p31. She had developmental and motor delay, facial dysmorphism including craniofacial asymmetry, downslanting palpebral fissures, low-set ears, and bilateral slightly broad and proximally placed first fingers. Her mother also carried the deletion and had macrocephaly, craniofacial asymmetry, low-set ears, a high palate, and bilaterally placed first fingers. Brain imaging in the proband showed hypoplastic corpus callosum, ventriculomegaly, loss of white matter, frontal cortical malformation with polymicrogyria and hypoplastic falx cerebri, partial inversion of the hippocampi, and arachnoid cysts. Brain imaging in the mother showed hypoplastic corpus callosum, mild ventriculomegaly, mild frontoparietal atrophy/hypoplasia, and slight asymmetry of the frontal gyri. Craniosynostosis and urinary tract anomalies were not present. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28452798" 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>In 5 patients with hypoplastic or absent corpus callosum, hydrocephalus or ventriculomegaly, and developmental delay, <a href="#5" class="mim-tip-reference" title="Lu, W., Quintero-Rivera, F., Fan, Y., Alkuraya, F. S., Donovan, D. J., Xi, Q., Turbe-Doan, A., Li, Q.-G., Campbell, C. G., Shanske, A. L., Sherr, E. H., Ahmad, A., and 16 others. <strong>NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects.</strong> PLoS Genet. 3: e80, 2007. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17530927/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17530927</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17530927[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/10.1371/journal.pgen.0030080" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17530927">Lu et al. (2007)</a> identified balanced translocations or interstitial deletions of chromosome 1p31 involving the NFIA gene. The findings were confirmed by FISH and Southern blot analysis. Three of the patients had previously been reported by <a href="#2" class="mim-tip-reference" title="Campbell, C. G. N., Wang, H., Hunter, G. W. <strong>Interstitial microdeletion of chromosome 1p in two siblings.</strong> Am. J. Med. Genet. 111: 289-294, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12210325/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12210325</a>] [<a href="https://doi.org/10.1002/ajmg.10595" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12210325">Campbell et al. (2002)</a> and <a href="#9" class="mim-tip-reference" title="Shanske, A. L., Edelmann, L., Kardon, N. B., Gosset, P., Levy, B. <strong>Detection of an interstitial deletion of 2q21-22 by high resolution comparative genomic hybridization in a child with multiple congenital anomalies and an apparent balanced translocation.</strong> Am. J. Med. Genet. 131A: 29-35, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15368480/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15368480</a>] [<a href="https://doi.org/10.1002/ajmg.a.30311" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15368480">Shanske et al. (2004)</a>. Two half sibs had a 12-Mb deletion involving approximately 47 additional genes, and another patient had a 12-Mb deletion of chromosome 2q encompassing 39 additional genes, as well as a translocation involving chromosome 1p. The remaining 2 patients had a translocation with a microdeletion and a translocation, respectively. Although all 5 cases had haploinsufficiency of NFIA, each case also had involvement of 1 or more additional genes, which may have contributed to the phenotype. Intragenic mutations in the NFIA gene were not identified in any of the patients or in 219 additional patients with various neurologic developmental abnormalities. <a href="#5" class="mim-tip-reference" title="Lu, W., Quintero-Rivera, F., Fan, Y., Alkuraya, F. S., Donovan, D. J., Xi, Q., Turbe-Doan, A., Li, Q.-G., Campbell, C. G., Shanske, A. L., Sherr, E. H., Ahmad, A., and 16 others. <strong>NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects.</strong> PLoS Genet. 3: e80, 2007. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17530927/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17530927</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17530927[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/10.1371/journal.pgen.0030080" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17530927">Lu et al. (2007)</a> noted the phenotypic similarities to Nfia loss of function in the mouse and suggested that haploinsufficiency of the NFIA gene contributed to the malformation syndrome in these patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15368480+17530927+12210325" 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>In a 6-month-old girl with macrocephaly, hypoplasia of the corpus callosum, and ventriculomegaly, <a href="#3" class="mim-tip-reference" title="Koehler, U., Holinski-Feder, E., Ertl-Wagner, B., Kunz, J., von Moers, A., von Voss, H., Schell-Apacik, C. <strong>A novel 1p31.3p32.2 deletion involving the NFIA gene detected by array CGH in a patient with macrocephaly and hypoplasia of the corpus callosum.</strong> Europ. J. Pediat. 169: 463-468, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19763616/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19763616</a>] [<a href="https://doi.org/10.1007/s00431-009-1057-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19763616">Koehler et al. (2010)</a> identified a 4.93-Mb deletion on the short arm of chromosome 1: del(1)(p32.2-p31.3), which deleted 16 genes, including the NFIA gene. Their case represented the smallest single imbalance deletion of this region reported to date. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19763616" 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="Labonne, J. D. J., Shen, Y., Kong, I.-K., Diamond, M. P., Layman, L. C., Kim, H.-G. <strong>Comparative deletion mapping at 1p31.3-p32.2 implies NFIA responsible for intellectual disability coupled with macrocephaly and the presence of several other genes for syndromic intellectual disability.</strong> Molec. Cytogenet. 9: 24, 2016. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26997977/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26997977</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26997977[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/10.1186/s13039-016-0234-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26997977">Labonne et al. (2016)</a> reviewed the features of several additional published and unpublished cases of patients with deletions in this region, and concluded that haploinsufficiency of the NFIA gene likely causes intellectual disability or cognitive deficits and macrocephaly. Haploinsufficiency of additional genes also likely contribute to the phenotype: these include DAB1 (<a href="/entry/603448">603448</a>), HOOK1 (<a href="/entry/607820">607820</a>), DOCK7 (<a href="/entry/615730">615730</a>), DNAJC6 (<a href="/entry/608375">608375</a>), and PDE4B (<a href="/entry/600127">600127</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26997977" 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>In a 9-year-old girl and her mother with macrocephaly, brain anomalies, and dysmorphic features, <a href="#1" class="mim-tip-reference" title="Bayat, A., Kirchhoff, M., Madsen, C. G., Roos, L., Kreiborg, S. <strong>Familial craniofacial abnormality and polymicrogyria associated with a microdeletion affecting the NFIA gene.</strong> Clin. Dysmorph. 26: 148-153, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28452798/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28452798</a>] [<a href="https://doi.org/10.1097/MCD.0000000000000182" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28452798">Bayat et al. (2017)</a> identified a heterozygous 1-Mb deletion that included exons 1 and 2 of the NFIA gene. The deletion was found by array CGH and confirmed in the mother by quantitative PCR. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28452798" 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>In a girl with BRMUTD, <a href="#8" class="mim-tip-reference" title="Rao, A., O'Donnell, S., Bain, N., Meldrum, C., Shorter, D., Goel, H. <strong>An intragenic deletion of the NFIA gene in a patient with a hypoplastic corpus callosum, craniofacial abnormalities and urinary tract defects.</strong> Europ. J. Med. Genet. 57: 65-70, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24462883/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24462883</a>] [<a href="https://doi.org/10.1016/j.ejmg.2013.12.011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24462883">Rao et al. (2014)</a> identified a de novo heterozygous 120-kb intragenic deletion of the NFIA gene (<a href="/entry/600727#0001">600727.0001</a>). The deletion was found by CGH microarray analysis. Functional studies of the variant and studies of patient cells were not performed, but the mutation was predicted to result in a truncated protein and haploinsufficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24462883" 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>In a Japanese boy with BRMUTD, <a href="#6" class="mim-tip-reference" title="Negishi, Y., Miya, F., Hattori, A., Mizuno, K., Hori, I., Ando, N., Okamoto, N. Kato, M., Tsunoda, T., Yamasaki, M., Kanemura, Y., Kosaki, K., Saitoh, S. <strong>Truncating mutation in NFIA causes brain malformation and urinary tract defects.</strong> Hum. Genome Var. 2: 15007, 2015. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27081522/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27081522</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27081522[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/10.1038/hgv.2015.7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27081522">Negishi et al. (2015)</a> identified a de novo heterozygous frameshift mutation in the NFIA gene (<a href="/entry/600727#0002">600727.0002</a>). The mutation was found by whole-exome sequencing and confirmed by Sanger sequencing. Functional studies of the variant and studies of patient cells were not performed, but the mutation was predicted to result in a truncated protein and haploinsufficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27081522" 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>In 4 members of a family with BRMUTD, <a href="#7" class="mim-tip-reference" title="Nyboe, D., Kreiborg, S., Kirchhoff, M., Hove, H. B. <strong>Familial craniosynostosis associated with a microdeletion involving the NFIA gene.</strong> Clin. Dysmorph. 24: 109-112, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25714559/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25714559</a>] [<a href="https://doi.org/10.1097/MCD.0000000000000079" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25714559">Nyboe et al. (2015)</a> identified a heterozygous 109-kb intragenic deletion affecting exons 1 and 2 of the NFIA gene (<a href="/entry/600727#0003">600727.0003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25714559" 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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Bayat, A., Kirchhoff, M., Madsen, C. G., Roos, L., Kreiborg, S.
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<strong>Familial craniofacial abnormality and polymicrogyria associated with a microdeletion affecting the NFIA gene.</strong>
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Clin. Dysmorph. 26: 148-153, 2017.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28452798/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28452798</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28452798" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Am. J. Med. Genet. 111: 289-294, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12210325/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12210325</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12210325" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Koehler, U., Holinski-Feder, E., Ertl-Wagner, B., Kunz, J., von Moers, A., von Voss, H., Schell-Apacik, C.
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<strong>A novel 1p31.3p32.2 deletion involving the NFIA gene detected by array CGH in a patient with macrocephaly and hypoplasia of the corpus callosum.</strong>
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Europ. J. Pediat. 169: 463-468, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19763616/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19763616</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19763616" 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/10.1007/s00431-009-1057-2" target="_blank">Full Text</a>]
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Labonne, J. D. J., Shen, Y., Kong, I.-K., Diamond, M. P., Layman, L. C., Kim, H.-G.
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<strong>Comparative deletion mapping at 1p31.3-p32.2 implies NFIA responsible for intellectual disability coupled with macrocephaly and the presence of several other genes for syndromic intellectual disability.</strong>
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Molec. Cytogenet. 9: 24, 2016. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26997977/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26997977</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26997977[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=26997977" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Lu, W., Quintero-Rivera, F., Fan, Y., Alkuraya, F. S., Donovan, D. J., Xi, Q., Turbe-Doan, A., Li, Q.-G., Campbell, C. G., Shanske, A. L., Sherr, E. H., Ahmad, A., and 16 others.
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<strong>NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects.</strong>
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PLoS Genet. 3: e80, 2007. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17530927/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17530927</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17530927[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=17530927" 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/10.1371/journal.pgen.0030080" target="_blank">Full Text</a>]
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Negishi, Y., Miya, F., Hattori, A., Mizuno, K., Hori, I., Ando, N., Okamoto, N. Kato, M., Tsunoda, T., Yamasaki, M., Kanemura, Y., Kosaki, K., Saitoh, S.
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<strong>Truncating mutation in NFIA causes brain malformation and urinary tract defects.</strong>
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Hum. Genome Var. 2: 15007, 2015. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27081522/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27081522</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27081522[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=27081522" 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/10.1038/hgv.2015.7" target="_blank">Full Text</a>]
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<a id="Nyboe2015" class="mim-anchor"></a>
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Nyboe, D., Kreiborg, S., Kirchhoff, M., Hove, H. B.
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<strong>Familial craniosynostosis associated with a microdeletion involving the NFIA gene.</strong>
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Clin. Dysmorph. 24: 109-112, 2015.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25714559/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25714559</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25714559" 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/10.1097/MCD.0000000000000079" target="_blank">Full Text</a>]
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<a id="Rao2014" class="mim-anchor"></a>
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Rao, A., O'Donnell, S., Bain, N., Meldrum, C., Shorter, D., Goel, H.
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<strong>An intragenic deletion of the NFIA gene in a patient with a hypoplastic corpus callosum, craniofacial abnormalities and urinary tract defects.</strong>
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Europ. J. Med. Genet. 57: 65-70, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24462883/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24462883</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24462883" 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/10.1016/j.ejmg.2013.12.011" target="_blank">Full Text</a>]
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Shanske, A. L., Edelmann, L., Kardon, N. B., Gosset, P., Levy, B.
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<strong>Detection of an interstitial deletion of 2q21-22 by high resolution comparative genomic hybridization in a child with multiple congenital anomalies and an apparent balanced translocation.</strong>
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Am. J. Med. Genet. 131A: 29-35, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15368480/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15368480</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15368480" 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.30311" target="_blank">Full Text</a>]
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Zinner, S. H., Batanian, J. R.
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<strong>Second reported patient with del(1)(p32.1p32.3) and similar clinical features suggesting a recognizable chromosomal syndrome.</strong>
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Am. J. Med. Genet. 122A: 164-167, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12955770/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12955770</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12955770" 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.20265" target="_blank">Full Text</a>]
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Michael Muriello - updated : 10/30/2017
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Cassandra L. Kniffin - updated : 04/13/2017
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Cassandra L. Kniffin : 2/8/2011
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carol : 10/31/2017
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carol : 10/30/2017<br>carol : 04/21/2017<br>carol : 04/20/2017<br>ckniffin : 04/13/2017<br>terry : 09/29/2011<br>carol : 4/28/2011<br>carol : 2/8/2011<br>ckniffin : 2/8/2011
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<strong>#</strong> 613735
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BRAIN MALFORMATIONS WITH OR WITHOUT URINARY TRACT DEFECTS; BRMUTD
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Other entities represented in this entry:
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CHROMOSOME 1p32-p31 DELETION SYNDROME, INCLUDED
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<strong>ORPHA:</strong> 401986;
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<strong>DO:</strong> 0060409;
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<strong>Phenotype-Gene Relationships</strong>
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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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1p31.3
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Brain malformations with or without urinary tract defects
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<span class="mim-font">
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613735
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Autosomal dominant
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3
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NFIA
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600727
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<p>A number sign (#) is used with this entry because brain malformations with or without urinary tract defects (BRMUTD) is caused by heterozygous mutation in the NFIA gene (600727) on chromosome 1p31.</p><p>Some patients with a similar phenotype have larger deletions of chromosome 1p32-p31, including the NFIA gene; this disorder thus represents a contiguous gene deletion syndrome.</p>
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<strong>Clinical Features</strong>
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<p>Rao et al. (2014) reported an 8-year-old girl with BRMUTD. She presented at age 7 weeks with failure to thrive and jaundice, and was found to have abnormal craniofacial features, including overfolded helices, large head, metopic synostosis, upslanting palpebral fissures, and broad anteverted nose. At age 3 years, she showed delayed psychomotor development, hypotonia, poor hand/eye coordination, and articulation difficulties. She also had neuropsychologic problems, including attention-deficit hyperactivity disorder; she did not have seizures. Brain imaging showed partial absence of the septum pellucidum, hypoplastic corpus callosum, partial fusion of lateral ventricles, and ventriculomegaly. Urinary involvement included hydronephrosis, possible kinking of the pelviureteric junction, and a single unilateral renal calculus. </p><p>Negishi et al. (2015) reported a 5-year-old Japanese boy with BRMUTD. He was born with a large head (+3.3 SD), and brain imaging showed interhemispheric cysts, ventricular enlargement, and callosal agenesis; repeat brain imaging a few years later showed polymicrogyria. He had mildly delayed psychomotor development, but no seizures. He did not have significant dysmorphic features. Urinary involvement included hydronephrosis, cystectasia, and vesicoureteral reflux. </p><p>Nyboe et al. (2015) reported a family in which 3 sibs and their father had BRMUTD. Brain malformations included hypoplasia of the corpus callosum in all 4, ventriculomegaly in 3, herniation of the cerebellar tonsils in 2, absent falx cerebri in 1, and partial incomplete inversion of the left hippocampi in 1. Two members had renal defects, including 2 small cysts in one and unilateral hydronephrosis and hydrourethra, and a ureterocele in the other. All 4 had macrocephaly, and 3 had craniosynostosis, which was sagittal in 1 and lambdoid in 2. Three had developmental delay. Variable dysmorphic features included overgrowth, bilateral proximally placed first fingers, facial asymmetry, downslanting palpebral fissures, and low-set ears. </p><p><strong><em>Chromosome 1p32-p31 Deletion Syndrome</em></strong></p><p>
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Lu et al. (2007) reported 5 patients, including 2 half sibs, with a similar neurologic phenotype characterized by hypoplastic or absent corpus callosum, hydrocephalus or ventriculomegaly, and developmental delay. Four patients had a tethered spinal cord, 3 had Chiari type I malformation, and 3 had seizures. In addition, 3 patients had urinary tract defects, including vesicoureteral reflux and urinary incontinence. Other variable features included pigmentary retinopathy, inguinal hernia, cryptorchidism, and skeletal abnormalities, such as polydactyly and congenital hip dysplasia. </p><p>Koehler et al. (2010) reported a 6-month-old girl who presented with muscular hypotonia, macrocephaly, hypoplasia of the corpus callosum, and ventriculomegaly associated with a de novo microdeletion of chromosome 1p: del(1)(p32.2-p31.3). Dysmorphic features included a broad face with a broad, prominent forehead, low-set ears with dysplastic helices, concave profile of the nose, anteverted nostrils, small chin, small mouth with thin upper lip, high palate, sparse eyebrows, and cutis marmorata. There were no apparent renal, ureter, or skeletal abnormalities. </p><p>Labonne et al. (2016) reported follow-up of a 22-year-old woman (DGDP005) with chromosome 1p32 deletion syndrome who was originally reported by Zinner and Batanian (2003). She showed delayed developmental milestones in infancy, and later had cognitive impairment with attention deficit-hyperactivity disorder and obsessive-compulsive disorder. Craniofacial anomalies included macrocephaly, frontal bossing, low-set ears, narrow nose, and thin lips. Other features included ocular hypertension, sleep difficulties, and hypertonia. At age 22, she was diagnosed with subarachnoid and intraventricular hemorrhage as well as an intracerebral aneurysm. Microarray analysis identified a 9.45-Mb deletion at 1p32.2-p31.3 that included at least 35 genes, including NFIA. Analysis of patient cells showed significantly decreased expression of NFIA compared to controls. </p><p>Bayat et al. (2017) described a 9-year-old girl with macrocephaly, brain anomalies, and dysmorphic features who had a 1-Mb deletion of chromosome 1p32-p31. She had developmental and motor delay, facial dysmorphism including craniofacial asymmetry, downslanting palpebral fissures, low-set ears, and bilateral slightly broad and proximally placed first fingers. Her mother also carried the deletion and had macrocephaly, craniofacial asymmetry, low-set ears, a high palate, and bilaterally placed first fingers. Brain imaging in the proband showed hypoplastic corpus callosum, ventriculomegaly, loss of white matter, frontal cortical malformation with polymicrogyria and hypoplastic falx cerebri, partial inversion of the hippocampi, and arachnoid cysts. Brain imaging in the mother showed hypoplastic corpus callosum, mild ventriculomegaly, mild frontoparietal atrophy/hypoplasia, and slight asymmetry of the frontal gyri. Craniosynostosis and urinary tract anomalies were not present. </p>
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<strong>Cytogenetics</strong>
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<p>In 5 patients with hypoplastic or absent corpus callosum, hydrocephalus or ventriculomegaly, and developmental delay, Lu et al. (2007) identified balanced translocations or interstitial deletions of chromosome 1p31 involving the NFIA gene. The findings were confirmed by FISH and Southern blot analysis. Three of the patients had previously been reported by Campbell et al. (2002) and Shanske et al. (2004). Two half sibs had a 12-Mb deletion involving approximately 47 additional genes, and another patient had a 12-Mb deletion of chromosome 2q encompassing 39 additional genes, as well as a translocation involving chromosome 1p. The remaining 2 patients had a translocation with a microdeletion and a translocation, respectively. Although all 5 cases had haploinsufficiency of NFIA, each case also had involvement of 1 or more additional genes, which may have contributed to the phenotype. Intragenic mutations in the NFIA gene were not identified in any of the patients or in 219 additional patients with various neurologic developmental abnormalities. Lu et al. (2007) noted the phenotypic similarities to Nfia loss of function in the mouse and suggested that haploinsufficiency of the NFIA gene contributed to the malformation syndrome in these patients. </p><p>In a 6-month-old girl with macrocephaly, hypoplasia of the corpus callosum, and ventriculomegaly, Koehler et al. (2010) identified a 4.93-Mb deletion on the short arm of chromosome 1: del(1)(p32.2-p31.3), which deleted 16 genes, including the NFIA gene. Their case represented the smallest single imbalance deletion of this region reported to date. </p><p>Labonne et al. (2016) reviewed the features of several additional published and unpublished cases of patients with deletions in this region, and concluded that haploinsufficiency of the NFIA gene likely causes intellectual disability or cognitive deficits and macrocephaly. Haploinsufficiency of additional genes also likely contribute to the phenotype: these include DAB1 (603448), HOOK1 (607820), DOCK7 (615730), DNAJC6 (608375), and PDE4B (600127). </p><p>In a 9-year-old girl and her mother with macrocephaly, brain anomalies, and dysmorphic features, Bayat et al. (2017) identified a heterozygous 1-Mb deletion that included exons 1 and 2 of the NFIA gene. The deletion was found by array CGH and confirmed in the mother by quantitative PCR. </p>
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<strong>Molecular Genetics</strong>
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<p>In a girl with BRMUTD, Rao et al. (2014) identified a de novo heterozygous 120-kb intragenic deletion of the NFIA gene (600727.0001). The deletion was found by CGH microarray analysis. Functional studies of the variant and studies of patient cells were not performed, but the mutation was predicted to result in a truncated protein and haploinsufficiency. </p><p>In a Japanese boy with BRMUTD, Negishi et al. (2015) identified a de novo heterozygous frameshift mutation in the NFIA gene (600727.0002). The mutation was found by whole-exome sequencing and confirmed by Sanger sequencing. Functional studies of the variant and studies of patient cells were not performed, but the mutation was predicted to result in a truncated protein and haploinsufficiency. </p><p>In 4 members of a family with BRMUTD, Nyboe et al. (2015) identified a heterozygous 109-kb intragenic deletion affecting exons 1 and 2 of the NFIA gene (600727.0003). </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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Bayat, A., Kirchhoff, M., Madsen, C. G., Roos, L., Kreiborg, S.
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<strong>Familial craniofacial abnormality and polymicrogyria associated with a microdeletion affecting the NFIA gene.</strong>
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Clin. Dysmorph. 26: 148-153, 2017.
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[PubMed: 28452798]
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[Full Text: https://doi.org/10.1097/MCD.0000000000000182]
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Campbell, C. G. N., Wang, H., Hunter, G. W.
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<strong>Interstitial microdeletion of chromosome 1p in two siblings.</strong>
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Am. J. Med. Genet. 111: 289-294, 2002.
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[PubMed: 12210325]
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[Full Text: https://doi.org/10.1002/ajmg.10595]
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Koehler, U., Holinski-Feder, E., Ertl-Wagner, B., Kunz, J., von Moers, A., von Voss, H., Schell-Apacik, C.
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<strong>A novel 1p31.3p32.2 deletion involving the NFIA gene detected by array CGH in a patient with macrocephaly and hypoplasia of the corpus callosum.</strong>
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Europ. J. Pediat. 169: 463-468, 2010.
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[PubMed: 19763616]
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[Full Text: https://doi.org/10.1007/s00431-009-1057-2]
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Labonne, J. D. J., Shen, Y., Kong, I.-K., Diamond, M. P., Layman, L. C., Kim, H.-G.
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<strong>Comparative deletion mapping at 1p31.3-p32.2 implies NFIA responsible for intellectual disability coupled with macrocephaly and the presence of several other genes for syndromic intellectual disability.</strong>
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Molec. Cytogenet. 9: 24, 2016. Note: Electronic Article.
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[PubMed: 26997977]
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[Full Text: https://doi.org/10.1186/s13039-016-0234-z]
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<p class="mim-text-font">
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Lu, W., Quintero-Rivera, F., Fan, Y., Alkuraya, F. S., Donovan, D. J., Xi, Q., Turbe-Doan, A., Li, Q.-G., Campbell, C. G., Shanske, A. L., Sherr, E. H., Ahmad, A., and 16 others.
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<strong>NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects.</strong>
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PLoS Genet. 3: e80, 2007. Note: Electronic Article.
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[PubMed: 17530927]
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[Full Text: https://doi.org/10.1371/journal.pgen.0030080]
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Negishi, Y., Miya, F., Hattori, A., Mizuno, K., Hori, I., Ando, N., Okamoto, N. Kato, M., Tsunoda, T., Yamasaki, M., Kanemura, Y., Kosaki, K., Saitoh, S.
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<strong>Truncating mutation in NFIA causes brain malformation and urinary tract defects.</strong>
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Hum. Genome Var. 2: 15007, 2015. Note: Electronic Article.
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[PubMed: 27081522]
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[Full Text: https://doi.org/10.1038/hgv.2015.7]
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<p class="mim-text-font">
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Nyboe, D., Kreiborg, S., Kirchhoff, M., Hove, H. B.
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<strong>Familial craniosynostosis associated with a microdeletion involving the NFIA gene.</strong>
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Clin. Dysmorph. 24: 109-112, 2015.
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[PubMed: 25714559]
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[Full Text: https://doi.org/10.1097/MCD.0000000000000079]
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Rao, A., O'Donnell, S., Bain, N., Meldrum, C., Shorter, D., Goel, H.
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<strong>An intragenic deletion of the NFIA gene in a patient with a hypoplastic corpus callosum, craniofacial abnormalities and urinary tract defects.</strong>
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Europ. J. Med. Genet. 57: 65-70, 2014.
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[PubMed: 24462883]
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[Full Text: https://doi.org/10.1016/j.ejmg.2013.12.011]
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<p class="mim-text-font">
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Shanske, A. L., Edelmann, L., Kardon, N. B., Gosset, P., Levy, B.
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<strong>Detection of an interstitial deletion of 2q21-22 by high resolution comparative genomic hybridization in a child with multiple congenital anomalies and an apparent balanced translocation.</strong>
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Am. J. Med. Genet. 131A: 29-35, 2004.
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[PubMed: 15368480]
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[Full Text: https://doi.org/10.1002/ajmg.a.30311]
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Zinner, S. H., Batanian, J. R.
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<strong>Second reported patient with del(1)(p32.1p32.3) and similar clinical features suggesting a recognizable chromosomal syndrome.</strong>
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Am. J. Med. Genet. 122A: 164-167, 2003.
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[PubMed: 12955770]
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[Full Text: https://doi.org/10.1002/ajmg.a.20265]
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<span class="mim-text-font">
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Michael Muriello - updated : 10/30/2017<br>Cassandra L. Kniffin - updated : 04/13/2017
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Cassandra L. Kniffin : 2/8/2011
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carol : 10/31/2017<br>carol : 10/30/2017<br>carol : 04/21/2017<br>carol : 04/20/2017<br>ckniffin : 04/13/2017<br>terry : 09/29/2011<br>carol : 4/28/2011<br>carol : 2/8/2011<br>ckniffin : 2/8/2011
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