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Entry
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- #613950 - SCHIZOPHRENIA 15; SCZD15
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- OMIM
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<span class="h4">#613950</span>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/613950"><strong>Clinical Synopsis</strong></a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="https://www.diseaseinfosearch.org/x/9265" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=613950[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.alliancegenome.org/disease/DOID:0070091" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="http://www.informatics.jax.org/disease/613950" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0070091" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<span>
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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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</span>
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</span>
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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>DO:</strong> 0070091<br />
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">ICD+</a>
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</div>
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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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613950
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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SCHIZOPHRENIA 15; SCZD15
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
|
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</span>
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</p>
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</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
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SCHIZOPHRENIA 15 WITH OR WITHOUT AN AFFECTIVE DISORDER<br />
|
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SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 22q13-RELATED
|
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</span>
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</h4>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
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<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
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</span>
|
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</h4>
|
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
|
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</th>
|
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<th>
|
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Phenotype
|
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</th>
|
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<th>
|
|
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>
|
|
Phenotype <br /> mapping key
|
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</th>
|
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<th>
|
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Gene/Locus
|
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</th>
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<th>
|
|
Gene/Locus <br /> MIM number
|
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</th>
|
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</tr>
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</thead>
|
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<tbody>
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<tr>
|
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<td>
|
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<span class="mim-font">
|
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<a href="/geneMap/22/424?start=-3&limit=10&highlight=424">
|
|
22q13.33
|
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</a>
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
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{Schizophrenia 15}
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</span>
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</td>
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<td>
|
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<span class="mim-font">
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<a href="/entry/613950"> 613950 </a>
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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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<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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SHANK3
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<span class="mim-font">
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<a href="/entry/606230"> 606230 </a>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/613950" 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 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/613950" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/613950" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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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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<span class="h5 mim-font">
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<strong> INHERITANCE </strong>
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<div style="margin-left: 2em;">
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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 class="h5 mim-font">
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<strong> NEUROLOGIC </strong>
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<div style="margin-left: 2em;">
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<span class="h5 mim-font">
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<em> Central Nervous System </em>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Schizophrenia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/58214004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">58214004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/191526005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">191526005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F20</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/F20.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F20.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/295.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">295.9</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/295" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">295</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/295.90" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">295.90</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0036341&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036341</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100753" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100753</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100753" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100753</a>]</span><br /> -
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Mental retardation, borderline to moderate (IQ 32-73) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5194490&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5194490</a>]</span><br /> -
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Schizoaffective disorder <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/191567000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">191567000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/68890003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">68890003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F25" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F25</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/F25.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F25.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/295.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">295.7</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0036337&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036337</a>]</span><br /> -
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Atypical chronic psychosis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5194491&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5194491</a>]</span><br /> -
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Hyperactivity <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/44548000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">44548000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0424295&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0424295</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000752" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000752</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000752" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000752</a>]</span><br />
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</span>
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<span class="h5 mim-font">
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<strong> MISCELLANEOUS </strong>
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<span class="mim-font">
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- Based on a report of 3 brothers and 1 unrelated female<br /> -
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Brothers inherited mutation from father who was germline mosaic<br /> -
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Onset of psychiatric symptoms in second decade<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> MOLECULAR BASIS </strong>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Caused by mutation in the SH3 and multiple ankyrin repeat domains 3 gene (SHANK3, <a href="/entry/606230#0002">606230.0002</a>)<br />
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</span>
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<div class="text-right">
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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<br />
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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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</h4>
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<p>A number sign (#) is used with this entry because of evidence that susceptibility to schizophrenia-15 (SCZD15) is conferred by variation in the SHANK3 gene (<a href="/entry/606230">606230</a>) on chromosome 22q13. Mutation in this gene is also involved in autism (see <a href="/entry/606232">606232</a>).</p><p>For a phenotypic description and a discussion of genetic heterogeneity of schizophrenia, see <a href="/entry/181500">181500</a>.</p>
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<br />
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<strong>Clinical Features</strong>
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<p><a href="#1" class="mim-tip-reference" title="Gauthier, J., Champagne, N., Lafreniere, R. G., Xiong, L., Spiegelman, D., Brustein, E., Lapointe, M., Peng, H., Cote, M., Noreau, A., Hamdan, F. F., Addington, A. M., and 18 others. <strong>De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia.</strong> Proc. Nat. Acad. Sci. 107: 7863-7868, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20385823/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20385823</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20385823[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/10.1073/pnas.0906232107" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20385823">Gauthier et al. (2010)</a> identified a family in which a proband and 2 affected brothers had schizophrenia. The proband was of European ancestry and had a diagnosis of schizoaffective disorder at age 19. He suffered from borderline mental retardation, with an IQ of 73, and had no autistic features. His brother was diagnosed with schizophrenia at age 21 and had a history of hyperactivity in childhood and 1 seizure at age 10. He was described as having mild mental retardation, but no definitive IQ was available. The third brother was diagnosed with schizophrenia and atypical chronic psychosis at age 16. He had moderate mental retardation, with an IQ of 36. The 3 brothers had no evidence of dysmorphic features, and no psychiatric illness was known to be present in the extended family except for major depression in the mother. An individual from a second family, a 23-year-old woman of European ancestry, was diagnosed with schizoaffective disorder at age 11 years. She had normal growth and no evidence of dysmorphic features but had speech impairment and poor academic and social performance with an IQ of 73. She had no evidence of autism on formal testing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20385823" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 3 brothers diagnosed with schizophrenia or schizoaffective disorder, <a href="#1" class="mim-tip-reference" title="Gauthier, J., Champagne, N., Lafreniere, R. G., Xiong, L., Spiegelman, D., Brustein, E., Lapointe, M., Peng, H., Cote, M., Noreau, A., Hamdan, F. F., Addington, A. M., and 18 others. <strong>De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia.</strong> Proc. Nat. Acad. Sci. 107: 7863-7868, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20385823/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20385823</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20385823[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/10.1073/pnas.0906232107" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20385823">Gauthier et al. (2010)</a> identified a heterozygous R1117X mutation in the SHANK3 gene (<a href="/entry/606230#0002">606230.0002</a>). The parents were unaffected and did not carry the mutation, which appeared to be inherited from the paternal strand through germline mosaicism. In an unrelated woman diagnosed with a schizoaffective disorder, <a href="#1" class="mim-tip-reference" title="Gauthier, J., Champagne, N., Lafreniere, R. G., Xiong, L., Spiegelman, D., Brustein, E., Lapointe, M., Peng, H., Cote, M., Noreau, A., Hamdan, F. F., Addington, A. M., and 18 others. <strong>De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia.</strong> Proc. Nat. Acad. Sci. 107: 7863-7868, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20385823/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20385823</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20385823[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/10.1073/pnas.0906232107" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20385823">Gauthier et al. (2010)</a> identified a de novo heterozygous R536W mutation in the SHANK3 gene (<a href="/entry/606230#0003">606230.0003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20385823" 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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Gauthier, J., Champagne, N., Lafreniere, R. G., Xiong, L., Spiegelman, D., Brustein, E., Lapointe, M., Peng, H., Cote, M., Noreau, A., Hamdan, F. F., Addington, A. M., and 18 others.
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<strong>De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia.</strong>
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Proc. Nat. Acad. Sci. 107: 7863-7868, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20385823/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20385823</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20385823[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=20385823" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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carol : 08/18/2017<br>terry : 05/20/2011<br>terry : 5/16/2011<br>alopez : 5/4/2011
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SCHIZOPHRENIA 15 WITH OR WITHOUT AN AFFECTIVE DISORDER<br />
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Autosomal dominant
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<p>A number sign (#) is used with this entry because of evidence that susceptibility to schizophrenia-15 (SCZD15) is conferred by variation in the SHANK3 gene (606230) on chromosome 22q13. Mutation in this gene is also involved in autism (see 606232).</p><p>For a phenotypic description and a discussion of genetic heterogeneity of schizophrenia, see 181500.</p>
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<p>Gauthier et al. (2010) identified a family in which a proband and 2 affected brothers had schizophrenia. The proband was of European ancestry and had a diagnosis of schizoaffective disorder at age 19. He suffered from borderline mental retardation, with an IQ of 73, and had no autistic features. His brother was diagnosed with schizophrenia at age 21 and had a history of hyperactivity in childhood and 1 seizure at age 10. He was described as having mild mental retardation, but no definitive IQ was available. The third brother was diagnosed with schizophrenia and atypical chronic psychosis at age 16. He had moderate mental retardation, with an IQ of 36. The 3 brothers had no evidence of dysmorphic features, and no psychiatric illness was known to be present in the extended family except for major depression in the mother. An individual from a second family, a 23-year-old woman of European ancestry, was diagnosed with schizoaffective disorder at age 11 years. She had normal growth and no evidence of dysmorphic features but had speech impairment and poor academic and social performance with an IQ of 73. She had no evidence of autism on formal testing. </p>
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<p>In 3 brothers diagnosed with schizophrenia or schizoaffective disorder, Gauthier et al. (2010) identified a heterozygous R1117X mutation in the SHANK3 gene (606230.0002). The parents were unaffected and did not carry the mutation, which appeared to be inherited from the paternal strand through germline mosaicism. In an unrelated woman diagnosed with a schizoaffective disorder, Gauthier et al. (2010) identified a de novo heterozygous R536W mutation in the SHANK3 gene (606230.0003). </p>
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Gauthier, J., Champagne, N., Lafreniere, R. G., Xiong, L., Spiegelman, D., Brustein, E., Lapointe, M., Peng, H., Cote, M., Noreau, A., Hamdan, F. F., Addington, A. M., and 18 others.
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<strong>De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia.</strong>
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Proc. Nat. Acad. Sci. 107: 7863-7868, 2010.
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[PubMed: 20385823]
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[Full Text: https://doi.org/10.1073/pnas.0906232107]
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carol : 08/07/2024<br>carol : 08/18/2017<br>terry : 05/20/2011<br>terry : 5/16/2011<br>alopez : 5/4/2011
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OMIM<sup>®</sup> and Online Mendelian Inheritance in Man<sup>®</sup> are registered trademarks of the Johns Hopkins University.
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