2677 lines
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Entry
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- #613670 - INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES; IDDLA
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- OMIM
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<p>
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<span class="h4">#613670</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/613670"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</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 style="display: table-cell;">External Links</div>
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<div><a href="https://clinicaltrials.gov/search?cond=INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES" 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=22612&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/NBK594825/" 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.diseaseinfosearch.org/x/8815" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=613670[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=391372" 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/308b7870-4d2e-4c55-b3bd-a348ad950b66/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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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0111331" 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/613670" 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:0111331" 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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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 391372<br />
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<strong>DO:</strong> 0111331<br />
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">ICD+</a>
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<div>
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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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613670
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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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INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES; IDDLA
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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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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<td>
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<span class="mim-font">
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<a href="/geneMap/3/456?start=-3&limit=10&highlight=456">
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3p13
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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Intellectual developmental disorder with language impairment with or without autistic features
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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/613670"> 613670 </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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<td>
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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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</td>
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<td>
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<span class="mim-font">
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FOXP1
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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/605515"> 605515 </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>
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</div>
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<div>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/613670" 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="caret"></span>
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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">
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
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<li><a href="/graph/linear/613670" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/613670" 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">
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<strong> GROWTH </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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<div>
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<span class="h5 mim-font">
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<em> Weight </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Obesity (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/414915002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">414915002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/414916001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">414916001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E66.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E66.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/278.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">278.00</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0028754&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0028754</a>, <a href="https://bioportal.bioontology.org/search?q=C4759928&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4759928</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001513" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001513</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001513" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001513</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>
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<span class="h5 mim-font">
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<strong> HEAD & NECK </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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<div>
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<span class="h5 mim-font">
|
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<em> Head </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Prominent forehead <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837260&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837260</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011220" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011220</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011220" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011220</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=a2091161c29564b62e12b608022a4044" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Forehead,Prominent-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=a2091161c29564b62e12b608022a4044" 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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Large head <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=C4083076&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4083076</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>, <a href="https://hpo.jax.org/app/browse/term/HP:0040194" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0040194</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><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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<span class="h5 mim-font">
|
|
<em> Face </em>
|
|
</span>
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</div>
|
|
<div style="margin-left: 2em;">
|
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<span class="mim-font">
|
|
|
|
- Retrognathia, mild <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1841615&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1841615</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/109515000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">109515000</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000278" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000278</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=ede3aa3495baae8accf26d8f779302ba" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Retrognathia-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=ede3aa3495baae8accf26d8f779302ba" 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> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Downslanting palpebral fissures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/246800008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">246800008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0423110&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0423110</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000494" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000494</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000494" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000494</a>]</span><br /> -
|
|
Hypertelorism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22006008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22006008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q75.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q75.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/376.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">376.41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020534&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020534</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000316" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000316</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000316" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000316</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=593a4d488f00bb03351a0ddffaf4ac9a" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Eyes,Widely_Spaced-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=593a4d488f00bb03351a0ddffaf4ac9a" 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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|
Strabismus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22066006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22066006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H50.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H50.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H50.40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H50.40</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0038379&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0038379</a>, <a href="https://bioportal.bioontology.org/search?q=C2020541&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2020541</a>, <a href="https://bioportal.bioontology.org/search?q=C1423541&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1423541</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000486" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000486</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000486" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000486</a>]</span><br /> -
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|
Nystagmus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/563001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">563001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H55.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H55.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H55.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H55.00</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/379.50" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">379.50</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0028738&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0028738</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000639" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000639</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000639" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000639</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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<span class="h5 mim-font">
|
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<em> Nose </em>
|
|
</span>
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</div>
|
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<div style="margin-left: 2em;">
|
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<span class="mim-font">
|
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|
|
- Short nose <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854114&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854114</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 /> -
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Broad nasal tip <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249327002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249327002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0426429&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0426429</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000455" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000455</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000455" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000455</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=6ddac380d031baefd82dea5c5d13ca2a" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Nasal_Tip,Broad-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=6ddac380d031baefd82dea5c5d13ca2a" 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>
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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">
|
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<em> Mouth </em>
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</span>
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</div>
|
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<div style="margin-left: 2em;">
|
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<span class="mim-font">
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|
- Oromotor difficulties <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4013767&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4013767</a>]</span><br /> -
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Open mouth <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/262016004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">262016004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240379&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240379</a>, <a href="https://bioportal.bioontology.org/search?q=C4285242&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4285242</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000194" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000194</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000194" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000194</a>]</span><br /> -
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Lip protrusion <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4013768&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4013768</a>]</span><br /> -
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Tongue apraxia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4478937&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4478937</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>
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<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> Hair </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Frontal hair upsweep <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1185616&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1185616</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002236" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002236</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>
|
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<span class="h5 mim-font">
|
|
<strong> MUSCLE, SOFT TISSUES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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|
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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 />
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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>
|
|
<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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|
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<em> Central Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Impaired intellectual development, mild to moderate <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5195340&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5195340</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 /> -
|
|
Delayed gross motor development <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/430099007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">430099007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837658&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837658</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002194" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002194</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002194" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002194</a>]</span><br /> -
|
|
Delayed walking <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241726&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241726</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0031936" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0031936</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0031936" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0031936</a>]</span><br /> -
|
|
Delayed speech development, severe <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4013765&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4013765</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/229721007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">229721007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000750" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000750</a>]</span><br /> -
|
|
Expressive language disorder <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/268734000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">268734000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/229733002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">229733002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F80.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F80.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/315.31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">315.31</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0454638&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0454638</a>, <a href="https://bioportal.bioontology.org/search?q=C0236826&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0236826</a>]</span><br /> -
|
|
Articulation difficulties <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1834121&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1834121</a>]</span><br /> -
|
|
Delayed myelination (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/135810007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">135810007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1277241&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1277241</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012448" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012448</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012448" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012448</a>]</span><br /> -
|
|
Sensory integration disorder (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/425988004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">425988004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1960557&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1960557</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Behavioral Psychiatric Manifestations </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Autistic features (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1846135&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1846135</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000729" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000729</a>]</span><br /> -
|
|
Behavioral problems (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/277843001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">277843001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5886745&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5886745</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000708" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000708</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000708" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000708</a>]</span><br /> -
|
|
Hyperactivity <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/44548000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">44548000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0424295&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0424295</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000752" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000752</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000752" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000752</a>]</span><br /> -
|
|
Stereotypic behaviors <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/84328007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">84328007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0038271&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0038271</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000733" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000733</a>]</span><br /> -
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Aggression <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/61372001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">61372001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0001807&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0001807</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006919" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006919</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0000718" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000718</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000718" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000718</a>]</span><br /> -
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Mood lability <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/18963009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">18963009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R45.86" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R45.86</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/799.24" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">799.24</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0085633&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0085633</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000712" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000712</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000712" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000712</a>]</span><br /> -
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Obsessions <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/67698009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">67698009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0233697&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0233697</a>]</span><br /> -
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Compulsions <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/12479006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">12479006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R46.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R46.81</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0600104&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0600104</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000722" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000722</a>]</span><br />
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<strong> LABORATORY ABNORMALITIES </strong>
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- Elevated creatine phosphokinase levels (in some patients)<br />
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- De novo mutation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2985439&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2985439</a>]</span><br />
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<strong> MOLECULAR BASIS </strong>
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- Caused by mutation in the forkhead box P1 gene (FOXP1, <a href="/entry/605515#0001">605515.0001</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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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because intellectual developmental disorder with language impairment and with or without autistic features (IDDLA) is caused by heterozygous mutation in the FOXP1 gene (<a href="/entry/605515">605515</a>) on chromosome 3p13.</p>
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<p>Intellectual developmental disorder with language impairment and with or without autistic features (IDDLA) is a neurodevelopmental disorder characterized by global developmental delay with moderate to severe speech delay that particularly affects expressive speech. Most patients have articulation defects, but frank verbal dyspraxia is not observed. Common dysmorphic features include broad forehead, downslanting palpebral fissures, short nose with broad tip, relative macrocephaly, frontal hair upsweep, and prominent digit pads. Gross motor skills are also delayed. Some patients have autistic features and/or behavioral problems. All reported cases have occurred de novo (review by <a href="#5" class="mim-tip-reference" title="Le Fevre, A. K., Taylor, S., Malek, N. H., Horn, D., Carr, C. W., Abdul-Rahman, O. A., O'Donnell, S., Burgess, T., Shaw, M., Gecz, J., Bain, N., Fagan, K., Hunter, M. F. <strong>FOXP1 mutations cause intellectual disability and a recognizable phenotype.</strong> Am. J. Med. Genet. 161A: 3166-3175, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24214399/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24214399</a>] [<a href="https://doi.org/10.1002/ajmg.a.36174" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24214399">Le Fevre et al., 2013</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24214399" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#3" class="mim-tip-reference" title="Hamdan, F. F., Daoud, H., Rochefort, D., Piton, A., Gauthier, J., Langlois, M., Foomani, G., Dobrzeniecka, S., Krebs, M.-O., Joober, R., Lafreniere, R. G., Lacaille, J.-C., Mottron, L., Drapeau, P., Beauchamp, M. H., Phillips, M. S., Fombonne, E., Rouleau, G. A., Michaud, J. L. <strong>De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment.</strong> Am. J. Hum. Genet. 87: 671-678, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20950788/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20950788</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20950788[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/10.1016/j.ajhg.2010.09.017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20950788">Hamdan et al. (2010)</a> reported 2 unrelated children of French Canadian origin with a developmental disorder characterized by mildly to moderately impaired intellectual development, language impairment, and autistic features. Both showed global delay, delayed walking, and severely delayed speech development, with first words being spoken at age 3 and 6 years, respectively. Neither had evidence of an oromotor coordination defect. The first patient showed autistic features but did not meet full criteria due to some residual communication abilities, whereas the second patient met full criteria for autism (<a href="/entry/209850">209850</a>). Both patients showed severely limited expressive language, using single words or short sentences, although vocabulary was adequate in 1. Both showed better ability in receptive language comprehension. Both patients also showed behavioral abnormalities, including irritability, hyperactivity, aggression, and stereotypic rigid behaviors. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20950788" 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="Horn, D., Kapeller, J., Rivera-Brugues, N., Moog, U., Lorenz-Depiereux, B., Eck, S., Hempel, M., Wagenstaller, J., Gawthrope, A., Monaco, A. P., Bonin, M., Riess, O., and 11 others. <strong>Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits.</strong> Hum. Mutat. 31: E1851-E1860, 2010. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20848658/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20848658</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20848658[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/humu.21362" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20848658">Horn et al. (2010)</a> identified 3 unrelated children with moderately impaired intellectual development (IQ less than 50) associated with de novo heterozygous intragenic deletions affecting only the FOXP1 gene. The patients were ascertained from a cohort of 1,523 German patients with mental retardation who underwent analysis for copy number variation. All 3 children had delayed psychomotor development and severely impaired speech and language development, particularly affecting expressive language. All also had dysgrammatism and poor speech articulation with difficulties pronouncing consonants, and 2 had oromotor problems with a tendency to hold the mouth open. Walking occurred between 2 and 3 years of age. Two patients had mild dysmorphic features, including prominent forehead and frontal hair upsweep. The deletions were of paternal origin in all patients. One of 4,104 controls was found to have a large 1.3-Mb deletion of chromosome 3p14.1-p13 encompassing the entire FOXP1 gene and 3 additional neighboring genes, suggesting the possibility of incomplete penetrance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20848658" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Le Fevre, A. K., Taylor, S., Malek, N. H., Horn, D., Carr, C. W., Abdul-Rahman, O. A., O'Donnell, S., Burgess, T., Shaw, M., Gecz, J., Bain, N., Fagan, K., Hunter, M. F. <strong>FOXP1 mutations cause intellectual disability and a recognizable phenotype.</strong> Am. J. Med. Genet. 161A: 3166-3175, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24214399/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24214399</a>] [<a href="https://doi.org/10.1002/ajmg.a.36174" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24214399">Le Fevre et al. (2013)</a> reported a 6.5-year-old boy with impaired intellectual development and significant language impairment. In infancy, he had failure to thrive associated with oromotor dysfunction and excessive drooling. He showed delayed psychomotor development, with walking at age 25 months and a notable delay in speech and language acquisition with articulation difficulties. He did not have autistic features or behavioral problems. Mild dysmorphic features, including large head, prominent forehead, downslanting palpebral fissures, flat malar region, and short nose with broad tip, were also noted. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24214399" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Srivastava, S., Cohen, J. S., Vernon, H., Baranano, K., McClellan, R., Jamal, L., Naidu, S., Fatemi, A. <strong>Clinical whole exome sequencing in child neurology practice.</strong> Ann. Neurol. 76: 473-483, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25131622/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25131622</a>] [<a href="https://doi.org/10.1002/ana.24251" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25131622">Srivastava et al. (2014)</a> reported a child with impaired intellectual development with language impairment. Additional features in this patient included macrocephaly, delayed development, and delayed myelination on brain imaging. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25131622" 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="Sollis, E., Graham, S. A., Vino, A., Froehlich, H., Vreeburg, M., Dimitropoulou, D., Gilissen, C., Pfundt, R., Rappold, G. A., Brunner, H. G., Deriziotis, P., Fisher, S. E. <strong>Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorder.</strong> Hum. Molec. Genet. 25: 546-557, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26647308/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26647308</a>] [<a href="https://doi.org/10.1093/hmg/ddv495" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26647308">Sollis et al. (2016)</a> reported 3 unrelated children with a neurodevelopmental disorder characterized by global developmental delay, delayed walking, variable mental retardation, hypotonia, and speech-language impairment. One had articulation defects, another had apraxia of the tongue, and the third mostly lacked speech and had poor articulation. All had variable behavioral abnormalities, including obsessions and compulsions, stereotypical behavior, autistic features, attention deficit-hyperactivity disorder, and anxiety. Some patients had mild dysmorphic features, including macrocephaly, large forehead, hypertelorism, short nose, broad nasal tip, downslanting eyes, strabismus, and retrognathia. One patient had nystagmus and 2 had sensory integration disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26647308" 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="Moirangthem, A., Phadke, S. R. <strong>Novel FOXP1 pathogenic variants in two Indian subjects with syndromic intellectual disability.</strong> Am. J. Med. Genet. 185A: 1324-1327, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33427368/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33427368</a>] [<a href="https://doi.org/10.1002/ajmg.a.62083" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33427368">Moirangthem and Phadke (2021)</a> reported 2 unrelated Indian boys with intellectual developmental disorder with language impairment and mutation in the FOXP1 gene. Patient 1 had developmental delay noted in the first few months of life. Facial features included broad prominent forehead, frontal upsweep of hair, downslanting palpebral fissures, ptosis, and downturned corners with an open mouth with full lips. He also had mild pectus carinatum, camptodactyly of the right middle finger, and hyperextension of the proximal interphalangeal joints in the other digits. At 6 years of age, motor milestones were appropriate, but he had significant speech delay, echolalia, repetitive behavior, hyperactivity, and temper tantrums. He had an IQ of 55. He had 4 episodes of febrile seizures. Bone age was delayed when evaluated at 15 months and 6 years of age. Creatine phosphokinase (CPK) levels were increased on several occasions, with the highest level of 540 U/L (normal, 1-20 U/L). At 11 years of age, he had persistent enuresis and myopia. Brain MRI showed multiple prominent vessels, but MRA and MRV did not show any abnormalities. Patient 2 also had recognition of developmental delay in the first year of life. On physical examination, he had dolichocephaly, prominent forehead, frontal upsweep of the hair, downslanting palpebral fissures, strabismus, bulbous nasal tip, and full lips. He also had congenital contractures of the digits with pterygia across the interphalangeal joints, generalized hypotonia, and absent reflexes at the knees and ankles. He had a secundum atrial septal defect on echocardiogram and alternating esotropia on ophthalmologic exam. Brain MRI was normal. CPK was elevated to 446 U/L. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33427368" 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="Benvenuto, M., Palumbo, P., Di Muro, E., Perrotta, C. S., Mazza, T., Mandara, G. M. L., Palumbo, O., Carella, M. <strong>Identification of a novel FOXP1 variant in a patient with hypotonia, intellectual disability, and severe speech impairment.</strong> Genes 14: 1958, 2023.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/37895307/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">37895307</a>] [<a href="https://doi.org/10.3390/genes14101958" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="37895307">Benvenuto et al. (2023)</a> identified a 10-year-old girl with intellectual developmental disorder with language impairment and a mutation in the FOXP1 gene. The parents reported early developmental delay. On physical examination, she had a prominent forehead, deep-set eyes, strabismus, a flat face, an asymmetrical nasal tip, widely spaced teeth, an exaggerated cupid bow, and raised ear lobes. She also had a secundum atrial septal defect on echocardiography, absence of sphincter control for up to 5 years, bilateral clinodactyly of the fourth fingers, and genu valgum. When seen at the age of 10 years, severe psychomotor delay was noted, with language delay (dysarthria), attentional and motor instability, and involuntary movements of the upper limbs. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=37895307" 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>The heterozygous mutations in the FOXP1 gene that were identified in patients with IDDLA by <a href="#3" class="mim-tip-reference" title="Hamdan, F. F., Daoud, H., Rochefort, D., Piton, A., Gauthier, J., Langlois, M., Foomani, G., Dobrzeniecka, S., Krebs, M.-O., Joober, R., Lafreniere, R. G., Lacaille, J.-C., Mottron, L., Drapeau, P., Beauchamp, M. H., Phillips, M. S., Fombonne, E., Rouleau, G. A., Michaud, J. L. <strong>De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment.</strong> Am. J. Hum. Genet. 87: 671-678, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20950788/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20950788</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20950788[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/10.1016/j.ajhg.2010.09.017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20950788">Hamdan et al. (2010)</a> and others occurred de novo. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20950788" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#2" class="mim-tip-reference" title="Carr, C. W., Moreno-De-Luca, D., Parker, C., Zimmerman, H. H., Ledbetter, N., Martin, C. L., Dobyns, W. B., Abdul-Rahman, O. A. <strong>Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency.</strong> Europ. J. Hum. Genet. 18: 1216-1220, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20571508/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20571508</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20571508[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/ejhg.2010.96" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20571508">Carr et al. (2010)</a> reported a boy with severe speech delay and delayed motor development who carried a de novo heterozygous 1.0-Mb interstitial deletion of chromosome 3p14.1 that involved only the FOXP1 gene. The phenotype was confounded by a Chiari I malformation, which was surgically corrected at age 30 months. The patient had delayed gross motor skills and walked at 16 months. After surgery for the Chiari malformation, he had some improvement in motor skills. The most significant feature was speech delay with limited verbal output and difficulty in articulating entire words and multisyllabic speech, although he did not have a deficit in oromotor coordination. At age 4 years, he developed staring spells with motor arrest associated with epileptiform discharges. He had mild dysmorphic facial features, including broad forehead, hypertelorism, downslanting palpebral fissures, ptosis, short nose, broad nasal tip, and smooth philtrum. <a href="#2" class="mim-tip-reference" title="Carr, C. W., Moreno-De-Luca, D., Parker, C., Zimmerman, H. H., Ledbetter, N., Martin, C. L., Dobyns, W. B., Abdul-Rahman, O. A. <strong>Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency.</strong> Europ. J. Hum. Genet. 18: 1216-1220, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20571508/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20571508</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20571508[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/ejhg.2010.96" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20571508">Carr et al. (2010)</a> concluded that FOXP1 may play a role in the development of verbal and motor skills. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20571508" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#3" class="mim-tip-reference" title="Hamdan, F. F., Daoud, H., Rochefort, D., Piton, A., Gauthier, J., Langlois, M., Foomani, G., Dobrzeniecka, S., Krebs, M.-O., Joober, R., Lafreniere, R. G., Lacaille, J.-C., Mottron, L., Drapeau, P., Beauchamp, M. H., Phillips, M. S., Fombonne, E., Rouleau, G. A., Michaud, J. L. <strong>De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment.</strong> Am. J. Hum. Genet. 87: 671-678, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20950788/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20950788</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20950788[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/10.1016/j.ajhg.2010.09.017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20950788">Hamdan et al. (2010)</a> identified 2 different de novo heterozygous mutations in the FOXP1 gene (<a href="/entry/605515#0001">605515.0001</a> and <a href="/entry/605515#0002">605515.0002</a>, respectively) in 2 unrelated children of French Canadian origin with moderately impaired intellectual development, expressive language deficits, and autism spectrum disorder (ASD). The first mutation (<a href="/entry/605515#0001">605515.0001</a>) was a small deletion found using array-based comparative genomic hybridization of a cohort of 80 patients with ASD and 30 with intellectual disability. The second mutation (R525X; <a href="/entry/605515#0002">605515.0002</a>) was found by direct sequencing of the FOXP1 gene in a cohort of 110 patients with intellectual disability, 84 with ASD, and 51 with both. <a href="#3" class="mim-tip-reference" title="Hamdan, F. F., Daoud, H., Rochefort, D., Piton, A., Gauthier, J., Langlois, M., Foomani, G., Dobrzeniecka, S., Krebs, M.-O., Joober, R., Lafreniere, R. G., Lacaille, J.-C., Mottron, L., Drapeau, P., Beauchamp, M. H., Phillips, M. S., Fombonne, E., Rouleau, G. A., Michaud, J. L. <strong>De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment.</strong> Am. J. Hum. Genet. 87: 671-678, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20950788/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20950788</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20950788[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/10.1016/j.ajhg.2010.09.017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20950788">Hamdan et al. (2010)</a> chose to examine the FOXP1 gene specifically because of the role of the FOXP2 gene (<a href="/entry/605317">605317</a>) in a speech and language disorder (SPCH1; <a href="/entry/602081">602081</a>); patients with intellectual disability and ASD often show language impairment. The results indicated that disruption of FOXP1 has a global impact on brain development. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20950788" 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 6.5-year-old boy with impaired intellectual development and significant language impairment, <a href="#5" class="mim-tip-reference" title="Le Fevre, A. K., Taylor, S., Malek, N. H., Horn, D., Carr, C. W., Abdul-Rahman, O. A., O'Donnell, S., Burgess, T., Shaw, M., Gecz, J., Bain, N., Fagan, K., Hunter, M. F. <strong>FOXP1 mutations cause intellectual disability and a recognizable phenotype.</strong> Am. J. Med. Genet. 161A: 3166-3175, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24214399/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24214399</a>] [<a href="https://doi.org/10.1002/ajmg.a.36174" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24214399">Le Fevre et al. (2013)</a> identified a de novo heterozygous intragenic deletion in the FOXP1 gene (<a href="/entry/605515#0003">605515.0003</a>) predicted to result in haploinsufficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24214399" 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 child with impaired intellectual development with language impairment, <a href="#8" class="mim-tip-reference" title="Srivastava, S., Cohen, J. S., Vernon, H., Baranano, K., McClellan, R., Jamal, L., Naidu, S., Fatemi, A. <strong>Clinical whole exome sequencing in child neurology practice.</strong> Ann. Neurol. 76: 473-483, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25131622/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25131622</a>] [<a href="https://doi.org/10.1002/ana.24251" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25131622">Srivastava et al. (2014)</a> identified a de novo missense mutation in the FOXP1 gene (W534R; <a href="/entry/605515#0004">605515.0004</a>). The patient was ascertained from a cohort of 78 patients with various neurodevelopmental disorders who underwent whole-exome sequencing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25131622" 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 3 unrelated patients with impaired intellectual development and language impairment, <a href="#7" class="mim-tip-reference" title="Sollis, E., Graham, S. A., Vino, A., Froehlich, H., Vreeburg, M., Dimitropoulou, D., Gilissen, C., Pfundt, R., Rappold, G. A., Brunner, H. G., Deriziotis, P., Fisher, S. E. <strong>Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorder.</strong> Hum. Molec. Genet. 25: 546-557, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26647308/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26647308</a>] [<a href="https://doi.org/10.1093/hmg/ddv495" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26647308">Sollis et al. (2016)</a> identified 3 different de novo heterozygous mutations in the FOXP1 gene (<a href="/entry/605515#0005">605515.0005</a>-<a href="/entry/605515#0007">605515.0007</a>). The mutations, including 1 nonsense and 2 missense mutations, were found by whole-exome sequencing and confirmed by Sanger sequencing. In vitro studies showed that the mutations resulted in altered cellular localization and formation of protein aggregates, as well as loss of transcriptional repression activity. The variants retained the ability to interact with wildtype FOXP1, suggesting that they could exert a dominant-negative effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26647308" 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>By exome sequencing, <a href="#6" class="mim-tip-reference" title="Moirangthem, A., Phadke, S. R. <strong>Novel FOXP1 pathogenic variants in two Indian subjects with syndromic intellectual disability.</strong> Am. J. Med. Genet. 185A: 1324-1327, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33427368/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33427368</a>] [<a href="https://doi.org/10.1002/ajmg.a.62083" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33427368">Moirangthem and Phadke (2021)</a> identified de novo heterozygous mutations in the FOXP1 gene in 2 unrelated Indian boys with intellectual developmental disorder with language impairment. Patient 1 had an insertion/deletion mutation (c.593_599delinsAGAAG, NM_032682) resulting in a frameshift and a premature stop codon (Leu198GlufsTer7), and patient 2 had a missense mutation (c.1556T-C, NM_032682.5) resulting in a leu519-to-pro (L519P) substitution in the highly conserved FOX domain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33427368" 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 10-year-old girl with intellectual developmental disorder with language impairment, <a href="#1" class="mim-tip-reference" title="Benvenuto, M., Palumbo, P., Di Muro, E., Perrotta, C. S., Mazza, T., Mandara, G. M. L., Palumbo, O., Carella, M. <strong>Identification of a novel FOXP1 variant in a patient with hypotonia, intellectual disability, and severe speech impairment.</strong> Genes 14: 1958, 2023.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/37895307/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">37895307</a>] [<a href="https://doi.org/10.3390/genes14101958" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="37895307">Benvenuto et al. (2023)</a> identified a de novo heterozygous nonsense mutation (Q344X) in exon 9 of the FOXP1 gene (c.1030C-T, NM_032682.6). The mutation was found by targeted gene panel sequencing and confirmed by Sanger sequencing. The variant was not present in several large databases (ESP6500, dbSNP, gnomAD) or in in-house controls and was classified as likely pathogenic by ACMG criteria. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=37895307" 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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Benvenuto, M., Palumbo, P., Di Muro, E., Perrotta, C. S., Mazza, T., Mandara, G. M. L., Palumbo, O., Carella, M.
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<strong>Identification of a novel FOXP1 variant in a patient with hypotonia, intellectual disability, and severe speech impairment.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/37895307/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">37895307</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=37895307" 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/10.3390/genes14101958" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="2" class="mim-anchor"></a>
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<a id="Carr2010" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Carr, C. W., Moreno-De-Luca, D., Parker, C., Zimmerman, H. H., Ledbetter, N., Martin, C. L., Dobyns, W. B., Abdul-Rahman, O. A.
|
|
<strong>Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency.</strong>
|
|
Europ. J. Hum. Genet. 18: 1216-1220, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20571508/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20571508</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20571508[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=20571508" 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/ejhg.2010.96" target="_blank">Full Text</a>]
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<a id="3" class="mim-anchor"></a>
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<a id="Hamdan2010" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Hamdan, F. F., Daoud, H., Rochefort, D., Piton, A., Gauthier, J., Langlois, M., Foomani, G., Dobrzeniecka, S., Krebs, M.-O., Joober, R., Lafreniere, R. G., Lacaille, J.-C., Mottron, L., Drapeau, P., Beauchamp, M. H., Phillips, M. S., Fombonne, E., Rouleau, G. A., Michaud, J. L.
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<strong>De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment.</strong>
|
|
Am. J. Hum. Genet. 87: 671-678, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20950788/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20950788</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20950788[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=20950788" 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.ajhg.2010.09.017" target="_blank">Full Text</a>]
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<a id="4" class="mim-anchor"></a>
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<a id="Horn2010" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Horn, D., Kapeller, J., Rivera-Brugues, N., Moog, U., Lorenz-Depiereux, B., Eck, S., Hempel, M., Wagenstaller, J., Gawthrope, A., Monaco, A. P., Bonin, M., Riess, O., and 11 others.
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<strong>Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits.</strong>
|
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Hum. Mutat. 31: E1851-E1860, 2010. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20848658/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20848658</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20848658[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=20848658" 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/humu.21362" target="_blank">Full Text</a>]
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<a id="5" class="mim-anchor"></a>
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<a id="Le Fevre2013" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Le Fevre, A. K., Taylor, S., Malek, N. H., Horn, D., Carr, C. W., Abdul-Rahman, O. A., O'Donnell, S., Burgess, T., Shaw, M., Gecz, J., Bain, N., Fagan, K., Hunter, M. F.
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<strong>FOXP1 mutations cause intellectual disability and a recognizable phenotype.</strong>
|
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Am. J. Med. Genet. 161A: 3166-3175, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24214399/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24214399</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24214399" 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.36174" target="_blank">Full Text</a>]
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<a id="6" class="mim-anchor"></a>
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<a id="Moirangthem2021" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Moirangthem, A., Phadke, S. R.
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<strong>Novel FOXP1 pathogenic variants in two Indian subjects with syndromic intellectual disability.</strong>
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Am. J. Med. Genet. 185A: 1324-1327, 2021.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33427368/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33427368</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33427368" 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.62083" target="_blank">Full Text</a>]
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<a id="7" class="mim-anchor"></a>
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<a id="Sollis2016" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sollis, E., Graham, S. A., Vino, A., Froehlich, H., Vreeburg, M., Dimitropoulou, D., Gilissen, C., Pfundt, R., Rappold, G. A., Brunner, H. G., Deriziotis, P., Fisher, S. E.
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<strong>Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorder.</strong>
|
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Hum. Molec. Genet. 25: 546-557, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26647308/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26647308</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26647308" 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/10.1093/hmg/ddv495" target="_blank">Full Text</a>]
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<li>
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<a id="8" class="mim-anchor"></a>
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<a id="Srivastava2014" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Srivastava, S., Cohen, J. S., Vernon, H., Baranano, K., McClellan, R., Jamal, L., Naidu, S., Fatemi, A.
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<strong>Clinical whole exome sequencing in child neurology practice.</strong>
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Ann. Neurol. 76: 473-483, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25131622/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25131622</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25131622" 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/ana.24251" target="_blank">Full Text</a>]
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<br />
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Sonja A. Rasmussen - updated : 08/13/2024
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 02/15/2017<br>Cassandra L. Kniffin - updated : 10/16/2014<br>Cassandra L. Kniffin - updated : 8/16/2011
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</span>
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin : 12/17/2010
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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alopez : 10/16/2024
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<span class="mim-text-font">
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alopez : 10/16/2024<br>carol : 08/19/2024<br>carol : 08/13/2024<br>carol : 08/13/2024<br>carol : 05/26/2022<br>carol : 02/16/2017<br>ckniffin : 02/15/2017<br>carol : 10/20/2014<br>mcolton : 10/17/2014<br>ckniffin : 10/16/2014<br>carol : 4/1/2014<br>alopez : 8/18/2011<br>ckniffin : 8/16/2011<br>wwang : 12/21/2010<br>ckniffin : 12/20/2010
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<span class="mim-font">
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<strong>#</strong> 613670
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<div>
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<h3>
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<span class="mim-font">
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INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES; IDDLA
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</span>
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</h3>
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<br />
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<h4>
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<span class="mim-font">
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MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES
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<span class="mim-text-font">
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<strong>ORPHA:</strong> 391372;
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<strong>DO:</strong> 0111331;
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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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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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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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<td>
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<span class="mim-font">
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3p13
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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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Intellectual developmental disorder with language impairment with or without autistic features
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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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613670
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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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Autosomal dominant
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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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3
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</td>
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<td>
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<span class="mim-font">
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FOXP1
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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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605515
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</table>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because intellectual developmental disorder with language impairment and with or without autistic features (IDDLA) is caused by heterozygous mutation in the FOXP1 gene (605515) on chromosome 3p13.</p>
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</span>
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<div>
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<br />
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Intellectual developmental disorder with language impairment and with or without autistic features (IDDLA) is a neurodevelopmental disorder characterized by global developmental delay with moderate to severe speech delay that particularly affects expressive speech. Most patients have articulation defects, but frank verbal dyspraxia is not observed. Common dysmorphic features include broad forehead, downslanting palpebral fissures, short nose with broad tip, relative macrocephaly, frontal hair upsweep, and prominent digit pads. Gross motor skills are also delayed. Some patients have autistic features and/or behavioral problems. All reported cases have occurred de novo (review by Le Fevre et al., 2013). </p>
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</span>
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<div>
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<p>Hamdan et al. (2010) reported 2 unrelated children of French Canadian origin with a developmental disorder characterized by mildly to moderately impaired intellectual development, language impairment, and autistic features. Both showed global delay, delayed walking, and severely delayed speech development, with first words being spoken at age 3 and 6 years, respectively. Neither had evidence of an oromotor coordination defect. The first patient showed autistic features but did not meet full criteria due to some residual communication abilities, whereas the second patient met full criteria for autism (209850). Both patients showed severely limited expressive language, using single words or short sentences, although vocabulary was adequate in 1. Both showed better ability in receptive language comprehension. Both patients also showed behavioral abnormalities, including irritability, hyperactivity, aggression, and stereotypic rigid behaviors. </p><p>Horn et al. (2010) identified 3 unrelated children with moderately impaired intellectual development (IQ less than 50) associated with de novo heterozygous intragenic deletions affecting only the FOXP1 gene. The patients were ascertained from a cohort of 1,523 German patients with mental retardation who underwent analysis for copy number variation. All 3 children had delayed psychomotor development and severely impaired speech and language development, particularly affecting expressive language. All also had dysgrammatism and poor speech articulation with difficulties pronouncing consonants, and 2 had oromotor problems with a tendency to hold the mouth open. Walking occurred between 2 and 3 years of age. Two patients had mild dysmorphic features, including prominent forehead and frontal hair upsweep. The deletions were of paternal origin in all patients. One of 4,104 controls was found to have a large 1.3-Mb deletion of chromosome 3p14.1-p13 encompassing the entire FOXP1 gene and 3 additional neighboring genes, suggesting the possibility of incomplete penetrance. </p><p>Le Fevre et al. (2013) reported a 6.5-year-old boy with impaired intellectual development and significant language impairment. In infancy, he had failure to thrive associated with oromotor dysfunction and excessive drooling. He showed delayed psychomotor development, with walking at age 25 months and a notable delay in speech and language acquisition with articulation difficulties. He did not have autistic features or behavioral problems. Mild dysmorphic features, including large head, prominent forehead, downslanting palpebral fissures, flat malar region, and short nose with broad tip, were also noted. </p><p>Srivastava et al. (2014) reported a child with impaired intellectual development with language impairment. Additional features in this patient included macrocephaly, delayed development, and delayed myelination on brain imaging. </p><p>Sollis et al. (2016) reported 3 unrelated children with a neurodevelopmental disorder characterized by global developmental delay, delayed walking, variable mental retardation, hypotonia, and speech-language impairment. One had articulation defects, another had apraxia of the tongue, and the third mostly lacked speech and had poor articulation. All had variable behavioral abnormalities, including obsessions and compulsions, stereotypical behavior, autistic features, attention deficit-hyperactivity disorder, and anxiety. Some patients had mild dysmorphic features, including macrocephaly, large forehead, hypertelorism, short nose, broad nasal tip, downslanting eyes, strabismus, and retrognathia. One patient had nystagmus and 2 had sensory integration disorder. </p><p>Moirangthem and Phadke (2021) reported 2 unrelated Indian boys with intellectual developmental disorder with language impairment and mutation in the FOXP1 gene. Patient 1 had developmental delay noted in the first few months of life. Facial features included broad prominent forehead, frontal upsweep of hair, downslanting palpebral fissures, ptosis, and downturned corners with an open mouth with full lips. He also had mild pectus carinatum, camptodactyly of the right middle finger, and hyperextension of the proximal interphalangeal joints in the other digits. At 6 years of age, motor milestones were appropriate, but he had significant speech delay, echolalia, repetitive behavior, hyperactivity, and temper tantrums. He had an IQ of 55. He had 4 episodes of febrile seizures. Bone age was delayed when evaluated at 15 months and 6 years of age. Creatine phosphokinase (CPK) levels were increased on several occasions, with the highest level of 540 U/L (normal, 1-20 U/L). At 11 years of age, he had persistent enuresis and myopia. Brain MRI showed multiple prominent vessels, but MRA and MRV did not show any abnormalities. Patient 2 also had recognition of developmental delay in the first year of life. On physical examination, he had dolichocephaly, prominent forehead, frontal upsweep of the hair, downslanting palpebral fissures, strabismus, bulbous nasal tip, and full lips. He also had congenital contractures of the digits with pterygia across the interphalangeal joints, generalized hypotonia, and absent reflexes at the knees and ankles. He had a secundum atrial septal defect on echocardiogram and alternating esotropia on ophthalmologic exam. Brain MRI was normal. CPK was elevated to 446 U/L. </p><p>Benvenuto et al. (2023) identified a 10-year-old girl with intellectual developmental disorder with language impairment and a mutation in the FOXP1 gene. The parents reported early developmental delay. On physical examination, she had a prominent forehead, deep-set eyes, strabismus, a flat face, an asymmetrical nasal tip, widely spaced teeth, an exaggerated cupid bow, and raised ear lobes. She also had a secundum atrial septal defect on echocardiography, absence of sphincter control for up to 5 years, bilateral clinodactyly of the fourth fingers, and genu valgum. When seen at the age of 10 years, severe psychomotor delay was noted, with language delay (dysarthria), attentional and motor instability, and involuntary movements of the upper limbs. </p>
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<p>The heterozygous mutations in the FOXP1 gene that were identified in patients with IDDLA by Hamdan et al. (2010) and others occurred de novo. </p>
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<p>Carr et al. (2010) reported a boy with severe speech delay and delayed motor development who carried a de novo heterozygous 1.0-Mb interstitial deletion of chromosome 3p14.1 that involved only the FOXP1 gene. The phenotype was confounded by a Chiari I malformation, which was surgically corrected at age 30 months. The patient had delayed gross motor skills and walked at 16 months. After surgery for the Chiari malformation, he had some improvement in motor skills. The most significant feature was speech delay with limited verbal output and difficulty in articulating entire words and multisyllabic speech, although he did not have a deficit in oromotor coordination. At age 4 years, he developed staring spells with motor arrest associated with epileptiform discharges. He had mild dysmorphic facial features, including broad forehead, hypertelorism, downslanting palpebral fissures, ptosis, short nose, broad nasal tip, and smooth philtrum. Carr et al. (2010) concluded that FOXP1 may play a role in the development of verbal and motor skills. </p>
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<strong>Molecular Genetics</strong>
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<p>Hamdan et al. (2010) identified 2 different de novo heterozygous mutations in the FOXP1 gene (605515.0001 and 605515.0002, respectively) in 2 unrelated children of French Canadian origin with moderately impaired intellectual development, expressive language deficits, and autism spectrum disorder (ASD). The first mutation (605515.0001) was a small deletion found using array-based comparative genomic hybridization of a cohort of 80 patients with ASD and 30 with intellectual disability. The second mutation (R525X; 605515.0002) was found by direct sequencing of the FOXP1 gene in a cohort of 110 patients with intellectual disability, 84 with ASD, and 51 with both. Hamdan et al. (2010) chose to examine the FOXP1 gene specifically because of the role of the FOXP2 gene (605317) in a speech and language disorder (SPCH1; 602081); patients with intellectual disability and ASD often show language impairment. The results indicated that disruption of FOXP1 has a global impact on brain development. </p><p>In a 6.5-year-old boy with impaired intellectual development and significant language impairment, Le Fevre et al. (2013) identified a de novo heterozygous intragenic deletion in the FOXP1 gene (605515.0003) predicted to result in haploinsufficiency. </p><p>In a child with impaired intellectual development with language impairment, Srivastava et al. (2014) identified a de novo missense mutation in the FOXP1 gene (W534R; 605515.0004). The patient was ascertained from a cohort of 78 patients with various neurodevelopmental disorders who underwent whole-exome sequencing. </p><p>In 3 unrelated patients with impaired intellectual development and language impairment, Sollis et al. (2016) identified 3 different de novo heterozygous mutations in the FOXP1 gene (605515.0005-605515.0007). The mutations, including 1 nonsense and 2 missense mutations, were found by whole-exome sequencing and confirmed by Sanger sequencing. In vitro studies showed that the mutations resulted in altered cellular localization and formation of protein aggregates, as well as loss of transcriptional repression activity. The variants retained the ability to interact with wildtype FOXP1, suggesting that they could exert a dominant-negative effect. </p><p>By exome sequencing, Moirangthem and Phadke (2021) identified de novo heterozygous mutations in the FOXP1 gene in 2 unrelated Indian boys with intellectual developmental disorder with language impairment. Patient 1 had an insertion/deletion mutation (c.593_599delinsAGAAG, NM_032682) resulting in a frameshift and a premature stop codon (Leu198GlufsTer7), and patient 2 had a missense mutation (c.1556T-C, NM_032682.5) resulting in a leu519-to-pro (L519P) substitution in the highly conserved FOX domain. </p><p>In a 10-year-old girl with intellectual developmental disorder with language impairment, Benvenuto et al. (2023) identified a de novo heterozygous nonsense mutation (Q344X) in exon 9 of the FOXP1 gene (c.1030C-T, NM_032682.6). The mutation was found by targeted gene panel sequencing and confirmed by Sanger sequencing. The variant was not present in several large databases (ESP6500, dbSNP, gnomAD) or in in-house controls and was classified as likely pathogenic by ACMG criteria. </p>
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<strong>REFERENCES</strong>
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Benvenuto, M., Palumbo, P., Di Muro, E., Perrotta, C. S., Mazza, T., Mandara, G. M. L., Palumbo, O., Carella, M.
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<strong>Identification of a novel FOXP1 variant in a patient with hypotonia, intellectual disability, and severe speech impairment.</strong>
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Genes 14: 1958, 2023.
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[PubMed: 37895307]
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[Full Text: https://doi.org/10.3390/genes14101958]
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Carr, C. W., Moreno-De-Luca, D., Parker, C., Zimmerman, H. H., Ledbetter, N., Martin, C. L., Dobyns, W. B., Abdul-Rahman, O. A.
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<strong>Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency.</strong>
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Europ. J. Hum. Genet. 18: 1216-1220, 2010.
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[PubMed: 20571508]
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[Full Text: https://doi.org/10.1038/ejhg.2010.96]
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Hamdan, F. F., Daoud, H., Rochefort, D., Piton, A., Gauthier, J., Langlois, M., Foomani, G., Dobrzeniecka, S., Krebs, M.-O., Joober, R., Lafreniere, R. G., Lacaille, J.-C., Mottron, L., Drapeau, P., Beauchamp, M. H., Phillips, M. S., Fombonne, E., Rouleau, G. A., Michaud, J. L.
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<strong>De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment.</strong>
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Am. J. Hum. Genet. 87: 671-678, 2010.
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[PubMed: 20950788]
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[Full Text: https://doi.org/10.1016/j.ajhg.2010.09.017]
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Horn, D., Kapeller, J., Rivera-Brugues, N., Moog, U., Lorenz-Depiereux, B., Eck, S., Hempel, M., Wagenstaller, J., Gawthrope, A., Monaco, A. P., Bonin, M., Riess, O., and 11 others.
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<strong>Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits.</strong>
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Hum. Mutat. 31: E1851-E1860, 2010. Note: Electronic Article.
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[PubMed: 20848658]
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[Full Text: https://doi.org/10.1002/humu.21362]
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Le Fevre, A. K., Taylor, S., Malek, N. H., Horn, D., Carr, C. W., Abdul-Rahman, O. A., O'Donnell, S., Burgess, T., Shaw, M., Gecz, J., Bain, N., Fagan, K., Hunter, M. F.
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<strong>FOXP1 mutations cause intellectual disability and a recognizable phenotype.</strong>
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Am. J. Med. Genet. 161A: 3166-3175, 2013.
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[PubMed: 24214399]
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[Full Text: https://doi.org/10.1002/ajmg.a.36174]
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Moirangthem, A., Phadke, S. R.
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<strong>Novel FOXP1 pathogenic variants in two Indian subjects with syndromic intellectual disability.</strong>
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Am. J. Med. Genet. 185A: 1324-1327, 2021.
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[PubMed: 33427368]
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[Full Text: https://doi.org/10.1002/ajmg.a.62083]
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Sollis, E., Graham, S. A., Vino, A., Froehlich, H., Vreeburg, M., Dimitropoulou, D., Gilissen, C., Pfundt, R., Rappold, G. A., Brunner, H. G., Deriziotis, P., Fisher, S. E.
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<strong>Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorder.</strong>
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Hum. Molec. Genet. 25: 546-557, 2016.
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[PubMed: 26647308]
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[Full Text: https://doi.org/10.1093/hmg/ddv495]
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Srivastava, S., Cohen, J. S., Vernon, H., Baranano, K., McClellan, R., Jamal, L., Naidu, S., Fatemi, A.
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<strong>Clinical whole exome sequencing in child neurology practice.</strong>
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Ann. Neurol. 76: 473-483, 2014.
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[PubMed: 25131622]
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[Full Text: https://doi.org/10.1002/ana.24251]
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Sonja A. Rasmussen - updated : 08/13/2024<br>Cassandra L. Kniffin - updated : 02/15/2017<br>Cassandra L. Kniffin - updated : 10/16/2014<br>Cassandra L. Kniffin - updated : 8/16/2011
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Thank you in advance for your generous support, <br />
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Ada Hamosh, MD, MPH <br />
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Scientific Director, OMIM <br />
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