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Entry
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- #616831 - LUSCAN-LUMISH SYNDROME; LLS
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- OMIM
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<p>
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<span class="h4">#616831</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/616831"><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="#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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</a>
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</h4>
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<div style="display: table-cell;">Clinical Resources</div>
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<div><a href="https://clinicaltrials.gov/search?cond=LUSCAN-LUMISH SYNDROME" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=29863&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/NBK575927/" 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.ncbi.nlm.nih.gov/gtr/all/tests/?term=616831[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=597738" 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/b9b2583c-424f-46b3-ae9a-6f257706b62c/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>
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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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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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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>SNOMEDCT:</strong> 1300117002<br />
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<strong>ORPHA:</strong> 597738<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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616831
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</span>
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</span>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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LUSCAN-LUMISH SYNDROME; LLS
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</h3>
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<div>
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<br />
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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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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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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<span class="mim-font">
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<a href="/geneMap/3/262?start=-3&limit=10&highlight=262">
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3p21.31
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</a>
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<td>
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<span class="mim-font">
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Luscan-Lumish syndrome
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<td>
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<span class="mim-font">
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<a href="/entry/616831"> 616831 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
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SETD2
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<td>
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<span class="mim-font">
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<a href="/entry/612778"> 612778 </a>
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</span>
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</td>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/616831" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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<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/616831" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/616831" 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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<p />
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
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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 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>
|
|
</div>
|
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|
|
</div>
|
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|
</div>
|
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|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GROWTH </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Height </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Tall stature <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/248328003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">248328003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241240&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241240</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000098" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000098</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000098" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000098</a>]</span><br /> -
|
|
Short stature <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/422065006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">422065006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237836003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237836003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237837007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237837007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E34.31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E34.31</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R62.52" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R62.52</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.43" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.43</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0349588&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0349588</a>, <a href="https://bioportal.bioontology.org/search?q=C0013336&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013336</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003510</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Weight </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Obesity <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 />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Head </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Macrocephaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/12138000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">12138000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1145403003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1145403003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q75.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q75.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221355&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221355</a>, <a href="https://bioportal.bioontology.org/search?q=C2243051&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2243051</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000256" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000256</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001355" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001355</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000256" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000256</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=dd989bb153739761147ef05dc870b050" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Macrocephaly-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=dd989bb153739761147ef05dc870b050" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Face </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Malar hypoplasia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1858085&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1858085</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000272" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000272</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000272" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000272</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=679675da378a2ab79998b5e87cd5918a" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Malar_Flattening-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=679675da378a2ab79998b5e87cd5918a" 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 /> -
|
|
Long face <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836047&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836047</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000276" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000276</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000276" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000276</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=729bf273c6a346c2f07ab0965824ffb2" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Face,Long-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=729bf273c6a346c2f07ab0965824ffb2" 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 /> -
|
|
Pointed chin <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844505&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844505</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000307" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000307</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000307" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000307</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=7974ac288cfc8dbf20fe3f16a7844d32" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Chin,Pointed-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=7974ac288cfc8dbf20fe3f16a7844d32" 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 /> -
|
|
Prominent mandible <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/109504005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">109504005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22810007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22810007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M26.213" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M26.213</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/524.23" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">524.23</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0399526&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0399526</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000303" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000303</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000303" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000303</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Ears </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Recurrent otitis media <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0747085&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0747085</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000403" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000403</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000403" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000403</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- 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 />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Nose </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Long nose <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839798&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839798</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003189" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003189</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003189" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003189</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=d37d499826d234a337ac0bfdfdb7751a" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Nose,Long-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=d37d499826d234a337ac0bfdfdb7751a" 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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<div>
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<div>
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<span class="h5 mim-font">
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<strong> GENITOURINARY </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> Internal Genitalia (Female) </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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- Polycystic ovaries <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/781067001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">781067001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237055002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237055002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E28.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E28.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/256.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">256.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0032460&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0032460</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000147" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000147</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000147" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000147</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> SKELETAL </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> Hands </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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- Advanced carpal ossification <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849292&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849292</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004233" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004233</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004233" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004233</a>]</span><br /> -
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|
Hyperlaxity of hands <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4227675&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4227675</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> NEUROLOGIC </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> Central Nervous System </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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|
- 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 /> -
|
|
Developmental delay <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/248290002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">248290002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/224958001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">224958001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F88" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F88</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/315.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">315.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0557874&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0557874</a>, <a href="https://bioportal.bioontology.org/search?q=C0424605&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0424605</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001263" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001263</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001263" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001263</a>]</span><br /> -
|
|
Intellectual disability <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/228156007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">228156007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/110359009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">110359009</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/317-319.99" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">317-319.99</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3714756&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3714756</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span><br /> -
|
|
Speech delay <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">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241210&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241210</a> 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> <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 /> -
|
|
Chiari malformation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253184003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253184003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q07.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q07.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0003803&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003803</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002308" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002308</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002308" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002308</a>]</span><br /> -
|
|
Ventriculomegaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/413808003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">413808003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1531647&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1531647</a>, <a href="https://bioportal.bioontology.org/search?q=C3278923&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3278923</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002119" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002119</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002119" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002119</a>]</span><br /> -
|
|
Seizures (tonic-clonic or nonfebrile) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4227356&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4227356</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/91175000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">91175000</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span><br /> -
|
|
Syringomyelia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/192894009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">192894009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/111496009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">111496009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G95.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G95.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/336.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">336.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0039144&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0039144</a>, <a href="https://bioportal.bioontology.org/search?q=C0039145&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0039145</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003396" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003396</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003396" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003396</a>]</span><br />
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|
</span>
|
|
</div>
|
|
</div>
|
|
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|
|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Behavioral Psychiatric Manifestations </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
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- Autism spectrum disorder <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/35919005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">35919005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F84.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F84.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/F84" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F84</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/F84.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F84.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/299" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">299</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/299.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">299.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1510586&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1510586</a>, <a href="https://bioportal.bioontology.org/search?q=C0524528&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0524528</a> 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> <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 /> -
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Anxiety disorder <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/197480006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">197480006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F41.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F41.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0003469&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003469</a>]</span><br /> -
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Behavior troubles <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4314352&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4314352</a>]</span><br /> -
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Hyperphagia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/58424009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">58424009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/267023007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">267023007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R63.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R63.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.6</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020505&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020505</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002591" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002591</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002591" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002591</a>]</span><br /> -
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Behavioral outbursts <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4227676&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4227676</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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<div>
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<div>
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<span class="h5 mim-font">
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<strong> ENDOCRINE FEATURES </strong>
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</span>
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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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- Menstrual irregularity <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/80182007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">80182007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0156404&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0156404</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000858" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000858</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000858" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000858</a>]</span><br /> -
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Polycystic ovary syndrome <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/781067001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">781067001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237055002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237055002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E28.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E28.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/256.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">256.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0032460&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0032460</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000147" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000147</a>]</span><br />
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</span>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> MISCELLANEOUS </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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- Variable phenotype <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837514&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837514</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003812" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003812</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003812" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003812</a>]</span><br /> -
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Three unrelated patients have been reported (last curated February 2016)<br />
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</span>
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<div>
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<span class="h5 mim-font">
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<strong> MOLECULAR BASIS </strong>
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</span>
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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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- Caused by mutation in the SET domain-containing protein 2 gene (SETD2, <a href="/entry/612778#0001">612778.0001</a>)<br />
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</span>
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</div>
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</div>
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<div class="text-right">
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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</div>
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<div>
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<br />
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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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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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that Luscan-Lumish syndrome (LLS) is caused by heterozygous mutation in the SETD2 gene (<a href="/entry/612778">612778</a>) on chromosome 3p21.</p>
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<br />
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<a id="description" class="mim-anchor"></a>
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Description</strong>
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<p>Luscan-Lumish syndrome (LLS) is characterized by macrocephaly, intellectual disability, speech delay, low sociability, and behavioral problems. More variable features include postnatal overgrowth, obesity, advanced carpal ossification, developmental delay, and seizures (<a href="#4" class="mim-tip-reference" title="Luscan, A., Laurendeau, I., Malan, V., Francannet, C., Odent, S., Giuliano, F., Lacombe, D., Touraine, R., Vidaud, M., Pasmant, E., Cormier-Daire, V. <strong>Mutations in SETD2 cause a novel overgrowth condition.</strong> J. Med. Genet. 51: 512-517, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24852293/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24852293</a>] [<a href="https://doi.org/10.1136/jmedgenet-2014-102402" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24852293">Luscan et al., 2014</a>; <a href="#3" class="mim-tip-reference" title="Lumish, H. S., Wynn, J., Devinsky, O., Chung, W. K. <strong>SETD2 mutation in a child with autism, intellectual disabilities and epilepsy.</strong> J. Autism Dev. Disord. 45: 3764-3770, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26084711/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26084711</a>] [<a href="https://doi.org/10.1007/s10803-015-2484-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26084711">Lumish et al., 2015</a>) <a href="https://pubmed.ncbi.nlm.nih.gov/?term=26084711+24852293" 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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<br />
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<a id="clinicalFeatures" class="mim-anchor"></a>
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<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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</h4>
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<p><a href="#4" class="mim-tip-reference" title="Luscan, A., Laurendeau, I., Malan, V., Francannet, C., Odent, S., Giuliano, F., Lacombe, D., Touraine, R., Vidaud, M., Pasmant, E., Cormier-Daire, V. <strong>Mutations in SETD2 cause a novel overgrowth condition.</strong> J. Med. Genet. 51: 512-517, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24852293/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24852293</a>] [<a href="https://doi.org/10.1136/jmedgenet-2014-102402" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24852293">Luscan et al. (2014)</a> described 2 unrelated individuals with similar clinical features including postnatal overgrowth, macrocephaly, obesity, speech delay, and advanced carpal ossification. The patients also had long and large hands and feet. Facial features included prominent forehead with high frontal hairline, downward slanting palpebral fissures, long nose, long face, malar hypoplasia, and prominent mandible. CT scan showed mild ventricular dilatation in 1 patient; MRI of the brain in this patient disclosed nodular and punctiform hypersignals at the anterior parts of the corona radiate and in the centrum semi-ovals. Behavioral difficulties were characterized by attention deficit, temper tantrums, aggressiveness, shyness, and low sociability, leading to problems in schooling and employment. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24852293" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Lumish, H. S., Wynn, J., Devinsky, O., Chung, W. K. <strong>SETD2 mutation in a child with autism, intellectual disabilities and epilepsy.</strong> J. Autism Dev. Disord. 45: 3764-3770, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26084711/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26084711</a>] [<a href="https://doi.org/10.1007/s10803-015-2484-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26084711">Lumish et al. (2015)</a> reported a 17-year-old girl with autism spectrum disorder (ASD), developmental delay, intellectual disability, behavioral compulsions, aggressiveness, anxiety disorder, attention deficit-hyperactivity disorder, generalized tonic-clonic seizures starting at 10 years of age, Chiari I malformation, mild to moderate hydrocephalus of the third and lateral ventricles, progressive macrocephaly, syringomyelia, and short stature. <a href="#3" class="mim-tip-reference" title="Lumish, H. S., Wynn, J., Devinsky, O., Chung, W. K. <strong>SETD2 mutation in a child with autism, intellectual disabilities and epilepsy.</strong> J. Autism Dev. Disord. 45: 3764-3770, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26084711/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26084711</a>] [<a href="https://doi.org/10.1007/s10803-015-2484-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26084711">Lumish et al. (2015)</a> also stated that a patient, previously reported to have ASD by O'Roak et al. (<a href="#6" class="mim-tip-reference" title="O'Roak, B. J., Vives, L., Fu, W., Egertson, J. D., Stanaway, I. B., Phelps, I. G., Carvill, G., Kumar, A., Lee, C., Ankenman, K., Munson, J., Hiatt, J. B., and 14 others. <strong>Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.</strong> Science 338: 1619-1622, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23160955/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23160955</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23160955[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/10.1126/science.1227764" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23160955">2012</a>, <a href="#7" class="mim-tip-reference" title="O'Roak, B. J., Vives, L., Girirajan, S., Karakoc, E., Krumm, N., Coe, B. P., Levy, R., Ko, A., Lee, C., Smith, J. D., Turner, E. H., Stanaway, I. B., and 11 others. <strong>Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.</strong> Nature 485: 246-250, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22495309/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22495309</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22495309[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/nature10989" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22495309">2012</a>), had a history of failure to thrive, nonfebrile seizures starting at 4 years of age, motor delays, low-normal nonverbal IQ, and macrocephaly. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=22495309+26084711+23160955" 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="van Rij, M. C., Hollink, I. H. I. M., Terhal, P. A., Kant, S. G., Ruivenkamp, C., van Haeringen, A., Kievit, J. A., van Belzen, M. J. <strong>Two novel cases expanding the phenotype of SETD2-related overgrowth syndrome.</strong> Am. J. Med. Genet. 176A: 1212-1215, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29681085/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29681085</a>] [<a href="https://doi.org/10.1002/ajmg.a.38666" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29681085">Van Rij et al. (2018)</a> described 2 patients with Luscan-Lumish syndrome. The first patient, a 4.5-year-old boy, had macrocephaly, speech and motor delay, autistic behavior, undescended testes, recurrent otitis media, and dysmorphic features including frontal bossing, high frontal hair line, occipital nevus flammeus, mild ptosis, soft elastic skin, and hyperlaxity of multiple joints. A hand X-ray showed delayed bone age. MRI of the brain was normal. The second patient, a 23-year-old woman, had macrocephaly, severely delayed speech and language development, mildly delayed motor skills, autism spectrum disorder, and behavioral issues including aggressive outbursts and self-mutilating behavior, with a high pain threshold. Dysmorphic features included asymmetric face with broad forehead, broad and high nasal bridge, large and broad chin, high palate, and tongue with deep creases. She also had recurrent otitis media and nasal polyps that required removal 3 times. MRI of the brain showed a slightly thickened corpus callosum but was otherwise normal. She also had truncal obesity with a body mass index of 32.3. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29681085" 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="Marzin, P., Rondeau, S., Aldinger, K. A., Alessandri, J. L., Isidor, B., Heron, D., Keren, B., Dobyns, W. B., Cormier-Daire, V. <strong>SETD2 related overgrowth syndrome: presentation of four new patients and review of the literature.</strong> Am. J. Med. Genet. 181C: 509-518, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31643139/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31643139</a>] [<a href="https://doi.org/10.1002/ajmg.c.31746" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31643139">Marzin et al. (2019)</a> reported 4 patients with Luscan-Lumish syndrome and reviewed the 9 previously reported patients. Over 90% of patients had macrocephaly, with advanced stature and obesity in half the cases. Intellectual disability was seen in 83%, autism spectrum disorders in 89%, and behavioral difficulties in 100% with aggressive outbursts in 83%. Other features included joint hypermobility (29%), hirsutism (33%), and nevi (50%). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31643139" 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="Chen, M., Quan, Y., Duan, G., Wu, H., Bai, T., Wang, Y., Zhou, S., Ou, J., Shen, Y., Hu, Z., Xia, K., Guo, H. <strong>Mutation pattern and genotype-phenotype correlations of SETD2 in neurodevelopmental disorders.</strong> Europ. J. Med. Genet. 64: 104200, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33766796/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33766796</a>] [<a href="https://doi.org/10.1016/j.ejmg.2021.104200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33766796">Chen et al. (2021)</a> reported 2 patients with autism spectrum disorder and features of Luscan-Lumish syndrome and reviewed data on 14 previously reported patients. Intellectual disability was reported in 7/7 patients, speech delay in 11/12, tall stature in 7/12, motor delay in 8/12, and autism spectrum disorder in 8/14. Behavioral issues such as ADHD, aggressive behavior, and anxiety were also reported. Recurrent otitis media was reported in 5 patients, and accelerated osseous maturation was reported in 4 patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33766796" 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 SETD2 gene that were identified in 2 patients with LLS by <a href="#4" class="mim-tip-reference" title="Luscan, A., Laurendeau, I., Malan, V., Francannet, C., Odent, S., Giuliano, F., Lacombe, D., Touraine, R., Vidaud, M., Pasmant, E., Cormier-Daire, V. <strong>Mutations in SETD2 cause a novel overgrowth condition.</strong> J. Med. Genet. 51: 512-517, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24852293/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24852293</a>] [<a href="https://doi.org/10.1136/jmedgenet-2014-102402" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24852293">Luscan et al. (2014)</a> and <a href="#3" class="mim-tip-reference" title="Lumish, H. S., Wynn, J., Devinsky, O., Chung, W. K. <strong>SETD2 mutation in a child with autism, intellectual disabilities and epilepsy.</strong> J. Autism Dev. Disord. 45: 3764-3770, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26084711/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26084711</a>] [<a href="https://doi.org/10.1007/s10803-015-2484-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26084711">Lumish et al. (2015)</a>, respectively, occurred de novo. Familial segregation of the mutation in a third patient, studied by <a href="#4" class="mim-tip-reference" title="Luscan, A., Laurendeau, I., Malan, V., Francannet, C., Odent, S., Giuliano, F., Lacombe, D., Touraine, R., Vidaud, M., Pasmant, E., Cormier-Daire, V. <strong>Mutations in SETD2 cause a novel overgrowth condition.</strong> J. Med. Genet. 51: 512-517, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24852293/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24852293</a>] [<a href="https://doi.org/10.1136/jmedgenet-2014-102402" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24852293">Luscan et al. (2014)</a>, could not be determined because the patient had been adopted. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=26084711+24852293" 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>O'Roak et al. (<a href="#6" class="mim-tip-reference" title="O'Roak, B. J., Vives, L., Fu, W., Egertson, J. D., Stanaway, I. B., Phelps, I. G., Carvill, G., Kumar, A., Lee, C., Ankenman, K., Munson, J., Hiatt, J. B., and 14 others. <strong>Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.</strong> Science 338: 1619-1622, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23160955/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23160955</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23160955[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/10.1126/science.1227764" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23160955">2012</a>, <a href="#7" class="mim-tip-reference" title="O'Roak, B. J., Vives, L., Girirajan, S., Karakoc, E., Krumm, N., Coe, B. P., Levy, R., Ko, A., Lee, C., Smith, J. D., Turner, E. H., Stanaway, I. B., and 11 others. <strong>Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.</strong> Nature 485: 246-250, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22495309/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22495309</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22495309[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/nature10989" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22495309">2012</a>) sequenced the exomes of parent-child trios exhibiting sporadic ASD, including 189 new trios and 20 that were previously reported. They also sequenced the exomes of 50 unaffected sibs corresponding to 31 of the new and 19 of the previously reported trios, for a total of 677 individual exomes from 209 families. All of the families were from the ASD Simmons Simplex Collection (SSC). The authors identified 4 individuals with ASD and heterozygous mutations in the SETD2 gene: 2 with nonsense mutations (paternally-inherited C94X and maternally-inherited Q7X), 1 with a de novo I41F missense mutation, and 1 (patient 12565.p1) with a de novo frameshift mutation. <a href="#3" class="mim-tip-reference" title="Lumish, H. S., Wynn, J., Devinsky, O., Chung, W. K. <strong>SETD2 mutation in a child with autism, intellectual disabilities and epilepsy.</strong> J. Autism Dev. Disord. 45: 3764-3770, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26084711/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26084711</a>] [<a href="https://doi.org/10.1007/s10803-015-2484-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26084711">Lumish et al. (2015)</a> stated that the patient with the frameshift mutation (<a href="/entry/612778#0001">612778.0001</a>) also had a history of failure to thrive, nonfebrile seizures starting at 4 years of age, motor delays, low-normal nonverbal IQ, and macrocephaly. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=22495309+26084711+23160955" 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="#2" class="mim-tip-reference" title="Iossifov, I., O'Roak, B. J., Sanders, S. J., Ronemus, M., Krumm, N., Levy, D., Stessman, H. A., Vives, L., Patterson, K. E., Smith, J. D., Paeper, B., and 35 others. <strong>The contribution of de novo coding mutations to autism spectrum disorder.</strong> Nature 515: 216-221, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25363768/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25363768</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25363768[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/nature13908" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25363768">Iossifov et al. (2014)</a> sequenced exomes from more than 2,500 simplex families, each having a child with ASD, and identified 2 patients with a heterozygous mutation in the SETD2 gene: a 1-basepair deletion and a missense mutation. Most of the families were from the SSC. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25363768" 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="Luscan, A., Laurendeau, I., Malan, V., Francannet, C., Odent, S., Giuliano, F., Lacombe, D., Touraine, R., Vidaud, M., Pasmant, E., Cormier-Daire, V. <strong>Mutations in SETD2 cause a novel overgrowth condition.</strong> J. Med. Genet. 51: 512-517, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24852293/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24852293</a>] [<a href="https://doi.org/10.1136/jmedgenet-2014-102402" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24852293">Luscan et al. (2014)</a> analyzed the coding sequences of 14 H3K27 methylation-related genes and 8 H3K36 methylation-related genes using a targeted next-generation sequencing approach in 3 Sotos (see <a href="/entry/117550">117550</a>), 11 'Sotos-like,' and 2 Weaver (<a href="/entry/277590">277590</a>) syndrome patients and identified heterozygous mutations in the SETD2 gene in 2 patients with a 'Sotos-like' syndrome (<a href="/entry/612778#0002">612778.0002</a> and <a href="/entry/612778#0003">612778.0003</a>). Neither variant was reported in the dbSNP, 1000 Genomes Project, or Exome Variant Server databases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24852293" 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 whole-exome sequencing in a 17-year-old girl with Luscan-Lumish syndrome, <a href="#3" class="mim-tip-reference" title="Lumish, H. S., Wynn, J., Devinsky, O., Chung, W. K. <strong>SETD2 mutation in a child with autism, intellectual disabilities and epilepsy.</strong> J. Autism Dev. Disord. 45: 3764-3770, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26084711/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26084711</a>] [<a href="https://doi.org/10.1007/s10803-015-2484-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26084711">Lumish et al. (2015)</a> identified a heterozygous de novo frameshift mutation in the SETD2 gene. The variant was not observed in approximately 6,000 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project database, in the dbSNP database, or in over 9,000 clinical exomes sequenced at GeneDx. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26084711" 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 2 patients with intellectual disability, speech delay, autism spectrum disorder, and macrocephaly consistent with Luscan-Lumish syndrome, <a href="#8" class="mim-tip-reference" title="van Rij, M. C., Hollink, I. H. I. M., Terhal, P. A., Kant, S. G., Ruivenkamp, C., van Haeringen, A., Kievit, J. A., van Belzen, M. J. <strong>Two novel cases expanding the phenotype of SETD2-related overgrowth syndrome.</strong> Am. J. Med. Genet. 176A: 1212-1215, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29681085/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29681085</a>] [<a href="https://doi.org/10.1002/ajmg.a.38666" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29681085">van Rij et al. (2018)</a> identified de novo heterozygous frameshift mutations in the SETD2 gene. These included a deletion/insertion (c.1647_1667delinsAC) in exon 3 and a single basepair deletion (c.6775delG) in exon 15, both resulting in a frameshift and a premature stop codon. The variants were not present in the unaffected parents of either patient. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29681085" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 4 patients with Luscan-Lumish syndrome, <a href="#5" class="mim-tip-reference" title="Marzin, P., Rondeau, S., Aldinger, K. A., Alessandri, J. L., Isidor, B., Heron, D., Keren, B., Dobyns, W. B., Cormier-Daire, V. <strong>SETD2 related overgrowth syndrome: presentation of four new patients and review of the literature.</strong> Am. J. Med. Genet. 181C: 509-518, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31643139/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31643139</a>] [<a href="https://doi.org/10.1002/ajmg.c.31746" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31643139">Marzin et al. (2019)</a> identified 2 nonsense mutations (K1426X and Y2157X) and 2 missense mutations (Y1666C and R1625H) in the SETD2 gene, all of which were located in the catalytic domain SET2. In a review of their 4 patients and 9 previously reported patients with LLS, the authors found that the mutations were intragenic loss-of-function variants (69% truncating and 31% missense) distributed throughout the gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31643139" 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>Using targeting sequencing in 2 patients with autism spectrum disorder and other features of Luscan-Lumish syndrome, <a href="#1" class="mim-tip-reference" title="Chen, M., Quan, Y., Duan, G., Wu, H., Bai, T., Wang, Y., Zhou, S., Ou, J., Shen, Y., Hu, Z., Xia, K., Guo, H. <strong>Mutation pattern and genotype-phenotype correlations of SETD2 in neurodevelopmental disorders.</strong> Europ. J. Med. Genet. 64: 104200, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33766796/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33766796</a>] [<a href="https://doi.org/10.1016/j.ejmg.2021.104200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33766796">Chen et al. (2021)</a> identified 2 de novo mutations in the SETD2 gene (NM_014159): a splicing mutation (c.4715+1G-A) and a missense mutation (c.3185C-T, P1062L). Neither variant was reported in large public databases. The authors also evaluated 17 reported de novo SETD2 variants (8 frameshift, 1 nonsense, 7 missense, 1 in-frame deletion). All missense variants occurred at residues that were evolutionarily conserved. Using ACMG criteria, 13 of the 19 variants were classified as pathogenic, 5 as likely pathogenic, and one (missense) as a variant of uncertain significance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33766796" 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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Chen, M., Quan, Y., Duan, G., Wu, H., Bai, T., Wang, Y., Zhou, S., Ou, J., Shen, Y., Hu, Z., Xia, K., Guo, H.
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<strong>Mutation pattern and genotype-phenotype correlations of SETD2 in neurodevelopmental disorders.</strong>
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Europ. J. Med. Genet. 64: 104200, 2021.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33766796/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33766796</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33766796" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ejmg.2021.104200" target="_blank">Full Text</a>]
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<a id="Iossifov2014" class="mim-anchor"></a>
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Iossifov, I., O'Roak, B. J., Sanders, S. J., Ronemus, M., Krumm, N., Levy, D., Stessman, H. A., Vives, L., Patterson, K. E., Smith, J. D., Paeper, B., and 35 others.
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<strong>The contribution of de novo coding mutations to autism spectrum disorder.</strong>
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Nature 515: 216-221, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25363768/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25363768</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25363768[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=25363768" 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/nature13908" target="_blank">Full Text</a>]
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Lumish, H. S., Wynn, J., Devinsky, O., Chung, W. K.
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<strong>SETD2 mutation in a child with autism, intellectual disabilities and epilepsy.</strong>
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J. Autism Dev. Disord. 45: 3764-3770, 2015.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26084711/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26084711</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26084711" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s10803-015-2484-8" target="_blank">Full Text</a>]
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Luscan, A., Laurendeau, I., Malan, V., Francannet, C., Odent, S., Giuliano, F., Lacombe, D., Touraine, R., Vidaud, M., Pasmant, E., Cormier-Daire, V.
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<strong>Mutations in SETD2 cause a novel overgrowth condition.</strong>
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J. Med. Genet. 51: 512-517, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24852293/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24852293</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24852293" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Marzin, P., Rondeau, S., Aldinger, K. A., Alessandri, J. L., Isidor, B., Heron, D., Keren, B., Dobyns, W. B., Cormier-Daire, V.
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<strong>SETD2 related overgrowth syndrome: presentation of four new patients and review of the literature.</strong>
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Am. J. Med. Genet. 181C: 509-518, 2019.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31643139/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31643139</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31643139" 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.c.31746" target="_blank">Full Text</a>]
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O'Roak, B. J., Vives, L., Fu, W., Egertson, J. D., Stanaway, I. B., Phelps, I. G., Carvill, G., Kumar, A., Lee, C., Ankenman, K., Munson, J., Hiatt, J. B., and 14 others.
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<strong>Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.</strong>
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Science 338: 1619-1622, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23160955/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23160955</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23160955[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=23160955" 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/10.1126/science.1227764" target="_blank">Full Text</a>]
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O'Roak, B. J., Vives, L., Girirajan, S., Karakoc, E., Krumm, N., Coe, B. P., Levy, R., Ko, A., Lee, C., Smith, J. D., Turner, E. H., Stanaway, I. B., and 11 others.
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<strong>Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.</strong>
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Nature 485: 246-250, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22495309/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22495309</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22495309[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=22495309" 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/nature10989" target="_blank">Full Text</a>]
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van Rij, M. C., Hollink, I. H. I. M., Terhal, P. A., Kant, S. G., Ruivenkamp, C., van Haeringen, A., Kievit, J. A., van Belzen, M. J.
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<strong>Two novel cases expanding the phenotype of SETD2-related overgrowth syndrome.</strong>
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Am. J. Med. Genet. 176A: 1212-1215, 2018.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29681085/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29681085</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29681085" 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.38666" target="_blank">Full Text</a>]
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Sonja A. Rasmussen - updated : 02/16/2023
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Nara Sobreira : 2/24/2016
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carol : 02/20/2023<br>carol : 02/17/2023<br>carol : 02/16/2023<br>alopez : 12/13/2022<br>carol : 12/29/2016<br>joanna : 06/29/2016<br>carol : 2/24/2016
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LUSCAN-LUMISH SYNDROME; LLS
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<strong>SNOMEDCT:</strong> 1300117002;
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<strong>ORPHA:</strong> 597738;
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<strong>Phenotype-Gene Relationships</strong>
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<span class="mim-font">
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3p21.31
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<span class="mim-font">
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Luscan-Lumish syndrome
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</td>
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<span class="mim-font">
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616831
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<span class="mim-font">
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Autosomal dominant
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<span class="mim-font">
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3
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<span class="mim-font">
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SETD2
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<span class="mim-font">
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612778
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that Luscan-Lumish syndrome (LLS) is caused by heterozygous mutation in the SETD2 gene (612778) on chromosome 3p21.</p>
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<span class="mim-font">
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<strong>Description</strong>
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<span class="mim-text-font">
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<p>Luscan-Lumish syndrome (LLS) is characterized by macrocephaly, intellectual disability, speech delay, low sociability, and behavioral problems. More variable features include postnatal overgrowth, obesity, advanced carpal ossification, developmental delay, and seizures (Luscan et al., 2014; Lumish et al., 2015) </p>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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<span class="mim-text-font">
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<p>Luscan et al. (2014) described 2 unrelated individuals with similar clinical features including postnatal overgrowth, macrocephaly, obesity, speech delay, and advanced carpal ossification. The patients also had long and large hands and feet. Facial features included prominent forehead with high frontal hairline, downward slanting palpebral fissures, long nose, long face, malar hypoplasia, and prominent mandible. CT scan showed mild ventricular dilatation in 1 patient; MRI of the brain in this patient disclosed nodular and punctiform hypersignals at the anterior parts of the corona radiate and in the centrum semi-ovals. Behavioral difficulties were characterized by attention deficit, temper tantrums, aggressiveness, shyness, and low sociability, leading to problems in schooling and employment. </p><p>Lumish et al. (2015) reported a 17-year-old girl with autism spectrum disorder (ASD), developmental delay, intellectual disability, behavioral compulsions, aggressiveness, anxiety disorder, attention deficit-hyperactivity disorder, generalized tonic-clonic seizures starting at 10 years of age, Chiari I malformation, mild to moderate hydrocephalus of the third and lateral ventricles, progressive macrocephaly, syringomyelia, and short stature. Lumish et al. (2015) also stated that a patient, previously reported to have ASD by O'Roak et al. (2012, 2012), had a history of failure to thrive, nonfebrile seizures starting at 4 years of age, motor delays, low-normal nonverbal IQ, and macrocephaly. </p><p>Van Rij et al. (2018) described 2 patients with Luscan-Lumish syndrome. The first patient, a 4.5-year-old boy, had macrocephaly, speech and motor delay, autistic behavior, undescended testes, recurrent otitis media, and dysmorphic features including frontal bossing, high frontal hair line, occipital nevus flammeus, mild ptosis, soft elastic skin, and hyperlaxity of multiple joints. A hand X-ray showed delayed bone age. MRI of the brain was normal. The second patient, a 23-year-old woman, had macrocephaly, severely delayed speech and language development, mildly delayed motor skills, autism spectrum disorder, and behavioral issues including aggressive outbursts and self-mutilating behavior, with a high pain threshold. Dysmorphic features included asymmetric face with broad forehead, broad and high nasal bridge, large and broad chin, high palate, and tongue with deep creases. She also had recurrent otitis media and nasal polyps that required removal 3 times. MRI of the brain showed a slightly thickened corpus callosum but was otherwise normal. She also had truncal obesity with a body mass index of 32.3. </p><p>Marzin et al. (2019) reported 4 patients with Luscan-Lumish syndrome and reviewed the 9 previously reported patients. Over 90% of patients had macrocephaly, with advanced stature and obesity in half the cases. Intellectual disability was seen in 83%, autism spectrum disorders in 89%, and behavioral difficulties in 100% with aggressive outbursts in 83%. Other features included joint hypermobility (29%), hirsutism (33%), and nevi (50%). </p><p>Chen et al. (2021) reported 2 patients with autism spectrum disorder and features of Luscan-Lumish syndrome and reviewed data on 14 previously reported patients. Intellectual disability was reported in 7/7 patients, speech delay in 11/12, tall stature in 7/12, motor delay in 8/12, and autism spectrum disorder in 8/14. Behavioral issues such as ADHD, aggressive behavior, and anxiety were also reported. Recurrent otitis media was reported in 5 patients, and accelerated osseous maturation was reported in 4 patients. </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Inheritance</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>The heterozygous mutations in the SETD2 gene that were identified in 2 patients with LLS by Luscan et al. (2014) and Lumish et al. (2015), respectively, occurred de novo. Familial segregation of the mutation in a third patient, studied by Luscan et al. (2014), could not be determined because the patient had been adopted. </p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</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>O'Roak et al. (2012, 2012) sequenced the exomes of parent-child trios exhibiting sporadic ASD, including 189 new trios and 20 that were previously reported. They also sequenced the exomes of 50 unaffected sibs corresponding to 31 of the new and 19 of the previously reported trios, for a total of 677 individual exomes from 209 families. All of the families were from the ASD Simmons Simplex Collection (SSC). The authors identified 4 individuals with ASD and heterozygous mutations in the SETD2 gene: 2 with nonsense mutations (paternally-inherited C94X and maternally-inherited Q7X), 1 with a de novo I41F missense mutation, and 1 (patient 12565.p1) with a de novo frameshift mutation. Lumish et al. (2015) stated that the patient with the frameshift mutation (612778.0001) also had a history of failure to thrive, nonfebrile seizures starting at 4 years of age, motor delays, low-normal nonverbal IQ, and macrocephaly. </p><p>Iossifov et al. (2014) sequenced exomes from more than 2,500 simplex families, each having a child with ASD, and identified 2 patients with a heterozygous mutation in the SETD2 gene: a 1-basepair deletion and a missense mutation. Most of the families were from the SSC. </p><p>Luscan et al. (2014) analyzed the coding sequences of 14 H3K27 methylation-related genes and 8 H3K36 methylation-related genes using a targeted next-generation sequencing approach in 3 Sotos (see 117550), 11 'Sotos-like,' and 2 Weaver (277590) syndrome patients and identified heterozygous mutations in the SETD2 gene in 2 patients with a 'Sotos-like' syndrome (612778.0002 and 612778.0003). Neither variant was reported in the dbSNP, 1000 Genomes Project, or Exome Variant Server databases. </p><p>By whole-exome sequencing in a 17-year-old girl with Luscan-Lumish syndrome, Lumish et al. (2015) identified a heterozygous de novo frameshift mutation in the SETD2 gene. The variant was not observed in approximately 6,000 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project database, in the dbSNP database, or in over 9,000 clinical exomes sequenced at GeneDx. </p><p>In 2 patients with intellectual disability, speech delay, autism spectrum disorder, and macrocephaly consistent with Luscan-Lumish syndrome, van Rij et al. (2018) identified de novo heterozygous frameshift mutations in the SETD2 gene. These included a deletion/insertion (c.1647_1667delinsAC) in exon 3 and a single basepair deletion (c.6775delG) in exon 15, both resulting in a frameshift and a premature stop codon. The variants were not present in the unaffected parents of either patient. </p><p>In 4 patients with Luscan-Lumish syndrome, Marzin et al. (2019) identified 2 nonsense mutations (K1426X and Y2157X) and 2 missense mutations (Y1666C and R1625H) in the SETD2 gene, all of which were located in the catalytic domain SET2. In a review of their 4 patients and 9 previously reported patients with LLS, the authors found that the mutations were intragenic loss-of-function variants (69% truncating and 31% missense) distributed throughout the gene. </p><p>Using targeting sequencing in 2 patients with autism spectrum disorder and other features of Luscan-Lumish syndrome, Chen et al. (2021) identified 2 de novo mutations in the SETD2 gene (NM_014159): a splicing mutation (c.4715+1G-A) and a missense mutation (c.3185C-T, P1062L). Neither variant was reported in large public databases. The authors also evaluated 17 reported de novo SETD2 variants (8 frameshift, 1 nonsense, 7 missense, 1 in-frame deletion). All missense variants occurred at residues that were evolutionarily conserved. Using ACMG criteria, 13 of the 19 variants were classified as pathogenic, 5 as likely pathogenic, and one (missense) as a variant of uncertain significance. </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Chen, M., Quan, Y., Duan, G., Wu, H., Bai, T., Wang, Y., Zhou, S., Ou, J., Shen, Y., Hu, Z., Xia, K., Guo, H.
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<strong>Mutation pattern and genotype-phenotype correlations of SETD2 in neurodevelopmental disorders.</strong>
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Europ. J. Med. Genet. 64: 104200, 2021.
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[PubMed: 33766796]
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[Full Text: https://doi.org/10.1016/j.ejmg.2021.104200]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Iossifov, I., O'Roak, B. J., Sanders, S. J., Ronemus, M., Krumm, N., Levy, D., Stessman, H. A., Vives, L., Patterson, K. E., Smith, J. D., Paeper, B., and 35 others.
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<strong>The contribution of de novo coding mutations to autism spectrum disorder.</strong>
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Nature 515: 216-221, 2014.
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[PubMed: 25363768]
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[Full Text: https://doi.org/10.1038/nature13908]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Lumish, H. S., Wynn, J., Devinsky, O., Chung, W. K.
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<strong>SETD2 mutation in a child with autism, intellectual disabilities and epilepsy.</strong>
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J. Autism Dev. Disord. 45: 3764-3770, 2015.
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[PubMed: 26084711]
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[Full Text: https://doi.org/10.1007/s10803-015-2484-8]
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</p>
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<li>
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<p class="mim-text-font">
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Luscan, A., Laurendeau, I., Malan, V., Francannet, C., Odent, S., Giuliano, F., Lacombe, D., Touraine, R., Vidaud, M., Pasmant, E., Cormier-Daire, V.
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<strong>Mutations in SETD2 cause a novel overgrowth condition.</strong>
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J. Med. Genet. 51: 512-517, 2014.
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[PubMed: 24852293]
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[Full Text: https://doi.org/10.1136/jmedgenet-2014-102402]
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</p>
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<li>
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<p class="mim-text-font">
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Marzin, P., Rondeau, S., Aldinger, K. A., Alessandri, J. L., Isidor, B., Heron, D., Keren, B., Dobyns, W. B., Cormier-Daire, V.
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<strong>SETD2 related overgrowth syndrome: presentation of four new patients and review of the literature.</strong>
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Am. J. Med. Genet. 181C: 509-518, 2019.
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[PubMed: 31643139]
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[Full Text: https://doi.org/10.1002/ajmg.c.31746]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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O'Roak, B. J., Vives, L., Fu, W., Egertson, J. D., Stanaway, I. B., Phelps, I. G., Carvill, G., Kumar, A., Lee, C., Ankenman, K., Munson, J., Hiatt, J. B., and 14 others.
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<strong>Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.</strong>
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Science 338: 1619-1622, 2012.
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[PubMed: 23160955]
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[Full Text: https://doi.org/10.1126/science.1227764]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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O'Roak, B. J., Vives, L., Girirajan, S., Karakoc, E., Krumm, N., Coe, B. P., Levy, R., Ko, A., Lee, C., Smith, J. D., Turner, E. H., Stanaway, I. B., and 11 others.
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<strong>Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.</strong>
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Nature 485: 246-250, 2012.
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[PubMed: 22495309]
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[Full Text: https://doi.org/10.1038/nature10989]
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<li>
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<p class="mim-text-font">
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van Rij, M. C., Hollink, I. H. I. M., Terhal, P. A., Kant, S. G., Ruivenkamp, C., van Haeringen, A., Kievit, J. A., van Belzen, M. J.
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<strong>Two novel cases expanding the phenotype of SETD2-related overgrowth syndrome.</strong>
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Am. J. Med. Genet. 176A: 1212-1215, 2018.
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[PubMed: 29681085]
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[Full Text: https://doi.org/10.1002/ajmg.a.38666]
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<span class="mim-text-font">
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Sonja A. Rasmussen - updated : 02/16/2023
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