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Entry
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- %304050 - AICARDI SYNDROME; AIC
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- OMIM
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<p>
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<span class="h4">%304050</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="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="/clinicalSynopsis/304050"><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="#cytogenetics">Cytogenetics</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="#seeAlso"><strong>See Also</strong></a>
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<li role="presentation">
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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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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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<div style="display: table-cell;">Gene Info</div>
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</a>
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=192" class="mim-tip-hint" title="The Gene Portal Hub; customizable portal of gene and protein function information." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'BioGPS', 'domain': 'biogps.org'})">BioGPS</a></div>
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<div><a href="https://www.genome.jp/dbget-bin/www_bget?hsa+192" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/192" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</a>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=AICARDI 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=254&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/NBK1381/" 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://medlineplus.gov/genetics/condition/aicardi-syndrome" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=304050[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=50" 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/319de56f-777a-4163-b80f-d03f4667e76b/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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<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> 80651009<br />
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<strong>ORPHA:</strong> 50<br />
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<strong>DO:</strong> 8461<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 or locus, molecular basis unknown">
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<span class="text-danger"><strong>%</strong></span>
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304050
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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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AICARDI SYNDROME; AIC
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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CORPUS CALLOSUM, AGENESIS OF, WITH CHORIORETINAL ABNORMALITY
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
|
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Cytogenetic location: <a href="/geneMap/X/1?start=-3&limit=10&highlight=1">Xp22</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chrX:1-24900000&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">X:1-24,900,000</a> </span>
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</em>
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</strong>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
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<a href="/geneMap/X/1?start=-3&limit=10&highlight=1">
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Xp22
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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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Aicardi syndrome
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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/304050"> 304050 </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="X-linked dominant">XLD</abbr>
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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="2 - The disorder was placed on the map by statistical methods">2</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/304050" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div>
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<p />
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</div>
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
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<div class="small" style="margin: 5px">
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> INHERITANCE </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- X-linked dominant <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1847879&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1847879</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001423" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001423</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001423" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001423</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> GROWTH </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<div>
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<span class="h5 mim-font">
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<em> Other </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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- Postnatal growth retardation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859778&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859778</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008897" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008897</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008897" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008897</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> HEAD & NECK </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<div>
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<span class="h5 mim-font">
|
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<em> Head </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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|
- Microcephaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1148757008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1148757008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q02" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q02</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/742.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">742.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4551563&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551563</a>, <a href="https://bioportal.bioontology.org/search?q=C0025958&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025958</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000252</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000252</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=0584d323b99dcd7001cc50e224947aca" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Microcephaly-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=0584d323b99dcd7001cc50e224947aca" 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>
|
|
</div>
|
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<em> Face </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Facial asymmetry <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/13851000119109" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">13851000119109</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/15253005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">15253005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q67.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q67.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1306710&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1306710</a>, <a href="https://bioportal.bioontology.org/search?q=C0546952&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0546952</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000324" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000324</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000324" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000324</a>]</span><br />
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|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Microphthalmia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204108000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204108000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/61142002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">61142002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q11.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q11.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/743.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.1</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/743.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.10</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/743.11" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.11</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026010&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026010</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000568" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000568</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000568" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000568</a>]</span><br /> -
|
|
Optic nerve coloboma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/44295002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">44295002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H47.319" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H47.319</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H47.31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H47.31</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q14.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q14.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/377.23" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">377.23</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0155299&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0155299</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000588" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000588</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000588" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000588</a>]</span><br /> -
|
|
Bilateral chorioretinopathy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844750&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844750</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/302893000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">302893000</a>]</span><br /> -
|
|
Chorioretinal lacunae <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844751&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844751</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007858" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007858</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007858" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007858</a>]</span><br /> -
|
|
Retinal detachment <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/42059000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">42059000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H33.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H33.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/361.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">361.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0035305&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0035305</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000541" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000541</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000541" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000541</a>]</span><br /> -
|
|
Cataract <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/193570009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">193570009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/247053007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">247053007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H26.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H26.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/366" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">366</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/366.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">366.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0086543&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0086543</a>, <a href="https://bioportal.bioontology.org/search?q=C1690964&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1690964</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000518" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000518</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000518" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000518</a>]</span><br /> -
|
|
Nystagmus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/563001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">563001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H55.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H55.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H55.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H55.00</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/379.50" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">379.50</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0028738&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0028738</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000639" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000639</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000639" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000639</a>]</span><br /> -
|
|
Optic atrophy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/76976005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">76976005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H47.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H47.2</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H47.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H47.20</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/377.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">377.10</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/377.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">377.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0029124&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0029124</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000648" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000648</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000648" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000648</a>]</span><br /> -
|
|
Sparse lateral eyebrows <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857206&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857206</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005338" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005338</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005338" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005338</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Nose </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Upturned nasal tip <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/708670007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">708670007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1840077&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1840077</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000463" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000463</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000463" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000463</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=656ef0aca7742d97c5769f51f0dd56de" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Nares,Anteverted-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=656ef0aca7742d97c5769f51f0dd56de" 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 /> -
|
|
Decreased angle of nasal bridge <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3551027&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3551027</a>]</span><br />
|
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</span>
|
|
</div>
|
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</div>
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<div>
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<div>
|
|
<span class="h5 mim-font">
|
|
<em> Mouth </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Prominent premaxilla <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2749369&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2749369</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010759" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010759</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010759" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010759</a>]</span><br /> -
|
|
Cleft lip <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/80281008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">80281008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q36" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q36</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q36.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q36.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/749.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">749.1</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/749.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">749.10</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0008924&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0008924</a>, <a href="https://bioportal.bioontology.org/search?q=C4321245&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4321245</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000204" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000204</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0410030" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0410030</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0410030" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0410030</a>]</span><br /> -
|
|
Cleft palate <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/63567004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">63567004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/87979003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">87979003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q35.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q35.5</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q35" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q35</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q35.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q35.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/749.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">749.00</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/749.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">749.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837218&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837218</a>, <a href="https://bioportal.bioontology.org/search?q=C2981150&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2981150</a>, <a href="https://bioportal.bioontology.org/search?q=C2240378&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2240378</a>, <a href="https://bioportal.bioontology.org/search?q=C0008925&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0008925</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000175" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000175</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000175" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000175</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> RESPIRATORY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Lung </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Recurrent pneumonia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/699014000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">699014000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0694550&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0694550</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006532" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006532</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006532" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006532</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> CHEST </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Ribs Sternum Clavicles & Scapulae </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Absent ribs <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249695006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249695006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0426816&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0426816</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000921" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000921</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000921" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000921</a>]</span><br /> -
|
|
Extra ribs <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/205460009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">205460009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q76.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q76.6</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0345397&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0345397</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005815" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005815</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005815" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005815</a>]</span><br /> -
|
|
Fused ribs <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/66102006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">66102006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q76.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q76.6</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0265695&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0265695</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000902" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000902</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000902" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000902</a>]</span><br /> -
|
|
Bifid ribs <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/66102006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">66102006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q76.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q76.6</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0265695&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0265695</a>, <a href="https://bioportal.bioontology.org/search?q=C4721788&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4721788</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000902" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000902</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0000892" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000892</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000892" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000892</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
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|
|
</div>
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|
|
|
</div>
|
|
|
|
|
|
|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> ABDOMEN </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
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|
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Gastrointestinal </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hiatal hernia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/84089009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">84089009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3489393&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3489393</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002036" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002036</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002036" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002036</a>]</span><br />
|
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|
</span>
|
|
</div>
|
|
</div>
|
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|
</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<em> Spine </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Butterfly vertebrae <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/897560004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">897560004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5438458&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5438458</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003316" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003316</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003316" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003316</a>]</span><br /> -
|
|
Block vertebrae <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844753&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844753</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003305" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003305</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003305" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003305</a>]</span><br /> -
|
|
Hemivertebrae <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/68359008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">68359008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q76.49" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q76.49</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/756.14" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">756.14</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0265677&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0265677</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002937" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002937</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002937" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002937</a>]</span><br /> -
|
|
Spina bifida <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/67531005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">67531005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q05.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q05.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q05" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q05</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/741.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">741.9</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/741.90" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">741.90</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/741" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">741</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0158534&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0158534</a>, <a href="https://bioportal.bioontology.org/search?q=C0080178&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0080178</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002414" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002414</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002414" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002414</a>]</span><br /> -
|
|
Scoliosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/298382003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">298382003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/20944008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">20944008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/111266001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">111266001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M41.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q67.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q67.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0559260&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0559260</a>, <a href="https://bioportal.bioontology.org/search?q=C0036439&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036439</a>, <a href="https://bioportal.bioontology.org/search?q=C0700208&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0700208</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002650</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002650</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Hands </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Proximally placed thumbs <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1865572&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1865572</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009623" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009623</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009623" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009623</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKIN, NAILS, & HAIR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Skin </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Scalp lipoma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/93161000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">93161000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0347425&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0347425</a>]</span><br /> -
|
|
Multiple nevi <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0700199&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0700199</a>]</span><br /> -
|
|
Hypopigmented macules <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2047793&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2047793</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0020073" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0020073</a>]</span><br /> -
|
|
Skin tags <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/31069005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">31069005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/201091002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">201091002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0037293&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0037293</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010609" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010609</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010609" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010609</a>]</span><br /> -
|
|
Hemangiomas <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253053003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253053003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/400210000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">400210000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D18.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D18.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/D18.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D18.00</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/228.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">228.0</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/228.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">228.00</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018916&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018916</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001028" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001028</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Hair </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Sparse lateral eyebrows <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857206&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857206</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005338" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005338</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005338" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005338</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Central Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Mental retardation, profound <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/31216003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">31216003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F73" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F73</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020796&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020796</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002187" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002187</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002187" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002187</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><br /> -
|
|
Infantile spasms <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/28055006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">28055006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G40.82" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G40.82</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/345.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">345.6</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3887898&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3887898</a>, <a href="https://bioportal.bioontology.org/search?q=C0037769&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0037769</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011097" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011097</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0012469" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012469</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012469" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012469</a>]</span><br /> -
|
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Seizures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/91175000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">91175000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0036572&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036572</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span><br /> -
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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 /> -
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Dandy-Walker malformation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/14447001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">14447001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q03.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q03.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0010964&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0010964</a>, <a href="https://bioportal.bioontology.org/search?q=C2931867&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2931867</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001305" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001305</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001305" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001305</a>]</span><br /> -
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Arnola-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><br /> -
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Cavum septum pellucidum <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/74968005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">74968005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0228158&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0228158</a>, <a href="https://bioportal.bioontology.org/search?q=C1840380&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1840380</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002389" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002389</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002389" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002389</a>]</span><br /> -
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Choroid plexus cyst <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/230790004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">230790004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0338597&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0338597</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002190" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002190</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002190" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002190</a>]</span><br /> -
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Intracranial cysts <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2748977&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2748977</a>]</span><br /> -
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Delayed myelination <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/135810007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">135810007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1277241&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1277241</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012448" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012448</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012448" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012448</a>]</span><br /> -
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Partial-total agenesis of corpus callosum <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857278&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857278</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001338" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001338</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001338" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001338</a>]</span><br /> -
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Enlarged lateral and third ventricles <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844746&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844746</a>]</span><br /> -
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Cortical heterotopias <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253150002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253150002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/448041008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">448041008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266491&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266491</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002282" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002282</a>]</span><br /> -
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Subependymal heterotopias <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844748</a>]</span><br /> -
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Pachygyria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/23024003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">23024003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q04.8" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q04.8</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q04.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q04.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266483&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266483</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001302" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001302</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001302" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001302</a>]</span><br /> -
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Hypoplastic cerebellar vermis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1840379&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1840379</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001320" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001320</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001320" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001320</a>]</span><br /> -
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Dysplasia of the cerebellar hemispheres <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2748978&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2748978</a>]</span><br /> -
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Polymicrogyria, predominantly frontal and perisylvian <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2748979&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2748979</a>]</span><br /> -
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Tectal enlargement <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2748980&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2748980</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:6000284" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:6000284</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:6000284" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:6000284</a>]</span><br /> -
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Widening of the operculum <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2748981&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2748981</a>]</span><br /> -
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Asymmetric brain development <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2748982&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2748982</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> ENDOCRINE FEATURES </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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- Precocious puberty <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/400179000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">400179000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E30.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E30.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0034013&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0034013</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000826" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000826</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000826" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000826</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> NEOPLASIA </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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<p>Aicardi syndrome is characterized by a triad of callosal agenesis, infantile spasms, and chorioretinal lacunae ('holes'). Flexion spasms in the infant represent the usual mode of clinical presentation (<a href="#1" class="mim-tip-reference" title="Aicardi, J. <strong>Aicardi syndrome: old and new findings.</strong> Int. Pediat. 14: 5-8, 1999."None>Aicardi, 1999</a>).</p>
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<p><a href="#2" class="mim-tip-reference" title="Aicardi, J., Chevrie, J. J., Rousselie, F. <strong>Le syndrome spasmes en flexion, agenesic calleuse, anomalies chorio-retiniennes.</strong> Arch. Franc. Pediat. 26: 1103-1120, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4314028/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4314028</a>]" pmid="4314028">Aicardi et al. (1969)</a> reported 15 cases, all in females. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4314028" 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="Dennis, J., Bower, B. D. <strong>The Aicardi syndrome.</strong> Develop. Med. Child. Neurol. 14: 382-390, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4624502/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4624502</a>] [<a href="https://doi.org/10.1111/j.1469-8749.1972.tb02604.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4624502">Dennis and Bower (1972)</a> described a female patient who, in addition to infantile spasms, mental subnormality, specific chorioretinopathy, and 'split brain,' had evidence of heterotopia of the brain by pneumoencephalogram, vertebral anomalies, and characteristic EEG changes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4624502" 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="#22" class="mim-tip-reference" title="Molina, J. A., Mateos, F., Merino, M., Epifanio, J. L., Gorrono, M. <strong>Aicardi syndrome in 2 sisters.</strong> J. Pediat. 115: 282-283, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2754559/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2754559</a>] [<a href="https://doi.org/10.1016/s0022-3476(89)80085-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2754559">Molina et al. (1989)</a> reported the disorder in 2 sisters, the first observation of affected sibs. The parents were healthy. Germinal mosaicism is a possible explanation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2754559" 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="#20" class="mim-tip-reference" title="McPherson, E., Jones, S. M. <strong>Cleft lip and palate in Aicardi syndrome.</strong> Am. J. Med. Genet. 37: 318-319, 1990. Note: Erratum: Am. J. Med. Genet. 42: 219 only, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2260557/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2260557</a>] [<a href="https://doi.org/10.1002/ajmg.1320370305" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2260557">McPherson and Jones (1990)</a> observed cleft lip and palate in Aicardi syndrome and referred to 2 similar previously reported cases. <a href="#16" class="mim-tip-reference" title="Jones, S. M., McPherson, E. <strong>Cleft lip and palate in Aicardi syndrome. (Letter)</strong> Am. J. Med. Genet. 42: 219 only, 1992."None>Jones and McPherson (1992)</a> noted that one of the 2 previously reported cases (<a href="#20" class="mim-tip-reference" title="McPherson, E., Jones, S. M. <strong>Cleft lip and palate in Aicardi syndrome.</strong> Am. J. Med. Genet. 37: 318-319, 1990. Note: Erratum: Am. J. Med. Genet. 42: 219 only, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2260557/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2260557</a>] [<a href="https://doi.org/10.1002/ajmg.1320370305" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2260557">McPherson and Jones (1990)</a>) had been reported by <a href="#28" class="mim-tip-reference" title="Robinow, M., Johnson, G. F., Minella, P. A. <strong>Aicardi syndrome, papilloma of the choroid plexus, cleft lip, and cleft of the posterior palate.</strong> J. Pediat. 104: 404-405, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6707796/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6707796</a>] [<a href="https://doi.org/10.1016/s0022-3476(84)81105-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6707796">Robinow et al. (1984)</a>. In addition, Robinow had brought to their attention another case of Aicardi syndrome with cleft lip and palate (<a href="#30" class="mim-tip-reference" title="Sato, N., Matsuishi, T., Utsunomiya, H., Yamashita, Y., Horikoshi, T., Okudera, T., Hashimoto, T. <strong>Aicardi syndrome with holoprosencephaly and cleft lip and palate.</strong> Pediat. Neurol. 3: 114-116, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3508052/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3508052</a>] [<a href="https://doi.org/10.1016/0887-8994(87)90039-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3508052">Sato et al., 1987</a>), bringing the total number of such patients to 4. The patient of <a href="#30" class="mim-tip-reference" title="Sato, N., Matsuishi, T., Utsunomiya, H., Yamashita, Y., Horikoshi, T., Okudera, T., Hashimoto, T. <strong>Aicardi syndrome with holoprosencephaly and cleft lip and palate.</strong> Pediat. Neurol. 3: 114-116, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3508052/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3508052</a>] [<a href="https://doi.org/10.1016/0887-8994(87)90039-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3508052">Sato et al. (1987)</a> also had holoprosencephaly, another midline defect that may occur occasionally in Aicardi syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6707796+3508052+2260557" 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 an infant girl with Aicardi syndrome, <a href="#34" class="mim-tip-reference" title="Tsao, C. Y., Sommer, A., Hamoudi, A. B. <strong>Aicardi syndrome, metastatic angiosarcoma of the leg, and scalp lipoma.</strong> Am. J. Med. Genet. 45: 594-596, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8456830/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8456830</a>] [<a href="https://doi.org/10.1002/ajmg.1320450515" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8456830">Tsao et al. (1993)</a> found associated scalp lipomas and a cavernous hemangioma of the leg which became malignant at 11 months, with distant metastases from metastatic angiosarcoma causing death at age 19 months. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8456830" 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="#33" class="mim-tip-reference" title="Trifiletti, R. R., Incorpora, G., Polizzi, A., Cocuzza, M. D., Bolan, E. A., Parano, E. <strong>Aicardi syndrome with multiple tumors: a case report with literature review.</strong> Brain Dev. 17: 283-285, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7503393/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7503393</a>] [<a href="https://doi.org/10.1016/0387-7604(95)00045-d" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7503393">Trifiletti et al. (1995)</a> reported a 5-year-old girl with choroid plexus papilloma and multiple gastric hyperplastic polyps, and referred to previous cases of Aicardi syndrome associated with brain tumors, especially choroid plexus papilloma. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7503393" 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="#21" class="mim-tip-reference" title="Menezes, A. V., Enzenauer, R. W., Buncic, J. R. <strong>Aicardi syndrome--the elusive mild case.</strong> Brit. J. Ophthal. 78: 494-496, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8060941/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8060941</a>] [<a href="https://doi.org/10.1136/bjo.78.6.494" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8060941">Menezes et al. (1994)</a> described unusually mild Aicardi syndrome in a 10-year-old girl whose symptoms included poorly controlled seizure disorder, typical lacunar retinopathy, partial hypoplasia of the corpus callosum, and developmental delay of 4 to 5 years with marked inattentiveness. <a href="#18" class="mim-tip-reference" title="King, A. M., Bowen, D. I., Goulding, P., Doran, R. M. L. <strong>Aicardi syndrome. (Letter)</strong> Brit. J. Ophthal. 82: 457 only, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9640202/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9640202</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9640202[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/bjo.82.4.456a" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9640202">King et al. (1998)</a> described an even milder case: a 49-year-old woman who was not severely mentally disabled and whose epilepsy had been well-controlled. She had dysgenesis of the corpus callosum and chorioretinal lacunae, which are typical of Aicardi syndrome. She had previously been diagnosed with cerebral and retinal toxoplasmosis, but there were no intracranial calcifications to support that diagnosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8060941+9640202" 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="#32" class="mim-tip-reference" title="Sutton, V. R., Hopkins, B. J., Eble, T. N., Gambhir, N., Lewis, R. A., Van den Veyver, I. B. <strong>Facial and physical features of Aicardi syndrome: infants to teenagers.</strong> Am. J. Med. Genet. 138A: 254-258, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16158440/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16158440</a>] [<a href="https://doi.org/10.1002/ajmg.a.30963" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16158440">Sutton et al. (2005)</a> studied 40 girls with Aicardi syndrome and determined that consistent facial features appeared in over half of them, including a prominent premaxilla, upturned nasal tip, decreased angle of the nasal bridge, and sparse lateral eyebrows. Externally apparent microphthalmia was seen in 10 (25%). <a href="#32" class="mim-tip-reference" title="Sutton, V. R., Hopkins, B. J., Eble, T. N., Gambhir, N., Lewis, R. A., Van den Veyver, I. B. <strong>Facial and physical features of Aicardi syndrome: infants to teenagers.</strong> Am. J. Med. Genet. 138A: 254-258, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16158440/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16158440</a>] [<a href="https://doi.org/10.1002/ajmg.a.30963" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16158440">Sutton et al. (2005)</a> concluded that Aicardi syndrome has a distinctive facial phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16158440" 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="#17" class="mim-tip-reference" title="Kamien, B. A., Gabbett, M. T. <strong>Aicardi syndrome associated with hepatoblastoma and pulmonary sequestration. (Letter)</strong> Am. J. Med. Genet. 149A: 1850-1852, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19610089/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19610089</a>] [<a href="https://doi.org/10.1002/ajmg.a.32985" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19610089">Kamien and Gabbett (2009)</a> reported a girl with features of Aicardi syndrome, including infantile spasms, chorioretinal lacunae, partial agenesis of the corpus callosum, and neuronal migration abnormalities, including nodular heterotopia and polymicrogyria. Dysmorphic features included upslanting palpebral fissures, an upturned nasal tip, deep philtrum, and large ears. In addition, she had a hepatoblastoma and intralobar pulmonary sequestration with congenital cystic adenomatoid malformation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19610089" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Neuroradiologic Findings</em></strong></p><p>
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<a href="#14" class="mim-tip-reference" title="Hopkins, B., Sutton, V. R., Lewis, R. A., Van den Veyver, I., Clark, G. <strong>Neuroimaging aspects of Aicardi syndrome.</strong> Am. J. Med. Genet. 146A: 2871-2878, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18925666/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18925666</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18925666[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/ajmg.a.32537" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18925666">Hopkins et al. (2008)</a> reported detailed brain MRI findings of 23 patients with Aicardi syndrome, performed at ages 1 day to 7.2 years. There were 22 girls and one 47,XXY male. All patients had polymicrogyria and periventricular heterotopia. Polymicrogyria was mainly in the frontal or perisylvian regions. Widening of the operculum was observed in 13 (72%) of 18 patients. Twenty (95%) patients had intracranial cysts, and 20 (95%) had cerebellar abnormalities, including superior foliar prominence of the vermis, inferior vermian hypoplasia, and dysplastic or hypoplastic cerebellar hemispheres. An enlarged cisterna magna was present in 11 (55%), and 4 (20%) had cerebellar cysts. Ten patients had tectal enlargements. The findings were consistent with a neuronal migration disorder and asymmetric brain development. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18925666" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#29" class="mim-tip-reference" title="Ropers, H. H., Zuffardi, O., Bianchi, E., Tiepolo, L. <strong>Agenesis of corpus callosum, ocular, and skeletal anomalies (X-linked dominant Aicardi's syndrome) in a girl with balanced X/3 translocation.</strong> Hum. Genet. 61: 364-368, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6818132/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6818132</a>] [<a href="https://doi.org/10.1007/BF00276602" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6818132">Ropers et al. (1982)</a> reported a case of Aicardi syndrome in a girl with presumably balanced X/3 translocation. They postulated that the clinical picture was due to chromosome breakage in the Aicardi locus. The breakpoint was in Xp22, between p22.2 and p22.3. This is the same region as steroid sulfatase, XG (<a href="/entry/300879">300879</a>), and a gene controlling a serologically defined, male-specific antigen, SDM (<a href="#36" class="mim-tip-reference" title="Wolf, U., Fraccaro, M., Mayerova, A., Hecht, T., Maraschio, P., Hameister, H. <strong>A gene controlling H-Y antigen on the X chromosome: tentative assignment by deletion mapping to Xp223.</strong> Hum. Genet. 54: 149-154, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7390489/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7390489</a>] [<a href="https://doi.org/10.1007/BF00278963" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7390489">Wolf et al., 1980</a>). According to <a href="#12" class="mim-tip-reference" title="Frezal, J. <strong>Personal Communication.</strong> Paris, France 1/30/1987."None>Frezal (1987)</a>, Aicardi doubted the validity of the diagnosis in the case of <a href="#29" class="mim-tip-reference" title="Ropers, H. H., Zuffardi, O., Bianchi, E., Tiepolo, L. <strong>Agenesis of corpus callosum, ocular, and skeletal anomalies (X-linked dominant Aicardi's syndrome) in a girl with balanced X/3 translocation.</strong> Hum. Genet. 61: 364-368, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6818132/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6818132</a>] [<a href="https://doi.org/10.1007/BF00276602" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6818132">Ropers et al. (1982)</a>. <a href="#23" class="mim-tip-reference" title="Neidich, J. A., Nussbaum, R. L., Packer, R., Graham, J. M., Jr., Donnenfeld, A. E., Emanuel, B. S., Puck, J. M. <strong>Heterogeneity in clinical severity and molecular lesions in Aicardi syndrome. (Abstract)</strong> Am. J. Hum. Genet. 43: A91, 1988."None>Neidich et al. (1988)</a> found 2 new patients with Aicardi syndrome and Xp22 abnormalities. They stated that all patients have been either XX female or 47,XXY Klinefelter syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6818132+7390489" 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="#26" class="mim-tip-reference" title="Nielsen, K. B., Anvret, M., Flodmark, O., Furuskog, P., Bohman-Valis, K. <strong>Aicardi syndrome: early neuroradiological manifestations and results of DNA studies in one patient.</strong> Am. J. Med. Genet. 38: 65-68, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2012135/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2012135</a>] [<a href="https://doi.org/10.1002/ajmg.1320380115" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2012135">Nielsen et al. (1991)</a> used 5 DNA markers from the Xp22.3-p21.3 region to study the DNA from a patient with Aicardi syndrome. No evidence for a microdeletion was observed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2012135" 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="Ballabio, A., Andria, G. <strong>Deletions and translocations involving the distal short arm of the human X chromosome: review and hypotheses.</strong> Hum. Molec. Genet. 1: 221-227, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1303191/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1303191</a>] [<a href="https://doi.org/10.1093/hmg/1.4.221" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1303191">Ballabio and Andria (1992)</a> analyzed deletions and translocations involving the distal short arm of the X chromosome. Their Figure 2 showed the order of genes in the region Xp22.3-p22.2: short stature (SS; <a href="/entry/312865">312865</a>), X-linked recessive chondrodysplasia punctata (CDPX1; <a href="/entry/302950">302950</a>), mental retardation (MRX2; <a href="/entry/300428">300428</a>), X-linked ichthyosis (XLI; <a href="/entry/308100">308100</a>), Kallmann syndrome (KAL; <a href="/entry/308700">308700</a>), and, in the most proximal area, Aicardi syndrome and focal dermal hypoplasia (FDH; <a href="/entry/305600">305600</a>). The last 2 lyonize, and with deletions males are nullisomic, a presumably lethal state. Females with monosomy show a mosaic pattern. The first 5 loci, which escape lyonization, behave as recessive traits. <a href="#31" class="mim-tip-reference" title="Schmidt, M., Du Sart, D. <strong>Functional disomies of the X chromosome influence the cell selection and hence the X inactivation pattern in females with balances X-autosome translocations: a review of 122 cases.</strong> Am. J. Med. Genet. 42: 161-169, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1733164/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1733164</a>] [<a href="https://doi.org/10.1002/ajmg.1320420205" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1733164">Schmidt and Du Sart (1992)</a> presented evidence suggesting that in some X/autosomal translocations, the phenotype results from the functional disomy of the region of the X chromosome that is translocated to the autosome. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1733164+1303191" 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="Bursztejn, A.-C., Bronner, M., Peudenier, S., Gregoire, M.-J., Jonveaux, P., Nemos, C. <strong>Molecular characterization of a monosomy 1p36 presenting as an Aicardi syndrome phenocopy.</strong> Am. J. Med. Genet. 149A: 2493-2500, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19842196/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19842196</a>] [<a href="https://doi.org/10.1002/ajmg.a.33051" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19842196">Bursztejn et al. (2009)</a> reported an 8-year-old girl with an initial clinical diagnosis of Aicardi syndrome who was subsequently found to carry a de novo 11.73-Mb terminal deletion of chromosome 1p36 (<a href="/entry/607872">607872</a>), thus revising the diagnosis. She had onset of infantile spasms at age 3 months, bilateral pupillary coloboma, agenesis of the corpus callosum, and delayed psychomotor development. The report emphasized the phenotypic overlap between the 2 disorders. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19842196" 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 inheritance of Aicardi syndrome is probably X-linked dominant with lethality in the hemizygous male. All cases would, on this hypothesis, be new mutations (<a href="#2" class="mim-tip-reference" title="Aicardi, J., Chevrie, J. J., Rousselie, F. <strong>Le syndrome spasmes en flexion, agenesic calleuse, anomalies chorio-retiniennes.</strong> Arch. Franc. Pediat. 26: 1103-1120, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4314028/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4314028</a>]" pmid="4314028">Aicardi et al., 1969</a>; <a href="#1" class="mim-tip-reference" title="Aicardi, J. <strong>Aicardi syndrome: old and new findings.</strong> Int. Pediat. 14: 5-8, 1999."None>Aicardi, 1999</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4314028" 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="#15" class="mim-tip-reference" title="Hopkins, I. J., Humphrey, I., Keith, G. G., Susman, M., Webb, G. C., Turner, E. K. <strong>The Aicardi syndrome in a 47,XXY male.</strong> Aust. Paediat. J. 15: 278-280, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/546395/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">546395</a>] [<a href="https://doi.org/10.1111/j.1440-1754.1979.tb01246.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="546395">Hopkins et al. (1979)</a> described the Aicardi syndrome in a 47,XXY male. This is, of course, consistent with the above suggested inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=546395" 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>The affected male reported by <a href="#7" class="mim-tip-reference" title="Curatolo, P., Libutti, G., Dallapiccola, B. <strong>Aicardi syndrome in a male infant.</strong> J. Pediat. 96: 286-287, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7351599/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7351599</a>] [<a href="https://doi.org/10.1016/s0022-3476(80)80830-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7351599">Curatolo et al. (1980)</a> argues against X-linked dominant inheritance with male lethality. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7351599" 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 18 girls with Aicardi syndrome identified through a survey of neurologists, geneticists, and ophthalmologists, <a href="#9" class="mim-tip-reference" title="Donnenfeld, A. E., Packer, R. J., Zackai, E. H., Chee, C. M., Sellinger, B., Emanuel, B. S. <strong>Clinical, cytogenetic, and pedigree findings in 18 cases of Aicardi syndrome.</strong> Am. J. Med. Genet. 32: 461-467, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2773986/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2773986</a>] [<a href="https://doi.org/10.1002/ajmg.1320320405" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2773986">Donnenfeld et al. (1989)</a> found complete agenesis of the corpus callosum in 72% and partial agenesis in 28%. Costovertebral defects including hemivertebrae, scoliosis, and absent or malformed ribs were present in 39%. Chromosomes in all patients and their parents were normal. An unbalanced X;3 translocation involving a breakpoint at Xp22.3 was discovered in a girl with chorioretinal lacunar lesions characteristic of Aicardi syndrome, developmental delay, and infantile seizures. Because the child had a normal-appearing corpus callosum on CT and magnetic resonance scans, she did not meet the criteria for inclusion in the study. Family studies showed a ratio of unaffected male:female sibs of 1:1.7 and a 14% spontaneous abortion rate. The findings were considered consistent with the view that Aicardi syndrome is an X-linked dominant disorder with early embryonic lethality in hemizygous males and that all cases represent new mutations. The finding in the atypical case is consistent with location of the gene in the Xp22.3 area. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2773986" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>X-Inactivation Studies</em></strong></p><p>
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<a href="#24" class="mim-tip-reference" title="Neidich, J. A., Nussbaum, R. L., Packer, R. J., Emanuel, B. S., Puck, J. M. <strong>Heterogeneity of clinical severity and molecular lesions in Aicardi syndrome.</strong> J. Pediat. 116: 911-917, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1971852/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1971852</a>] [<a href="https://doi.org/10.1016/s0022-3476(05)80649-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1971852">Neidich et al. (1990)</a> studied X inactivation in peripheral lymphocytes in 7 patients by means of 2 methods: methylation-sensitive restriction analysis and segregation of the active X chromosome in somatic cell hybrids. They found that 3 of the 7 cytogenetically normal girls with Aicardi syndrome had profoundly skewed X inactivation in their lymphocytes, supporting the concept that Aicardi syndrome is X-linked. Three of the 5 girls with the greatest degree of psychomotor retardation and the poorest seizure control had skewed X inactivation. In contrast, the 2 highest functioning children had random X inactivation. No evidence of deletion was found with 8 polymorphic DNA probes from the Xp22 region. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1971852" 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 the highly polymorphic, differentially methylated androgen receptor gene (<a href="/entry/313700">313700</a>), <a href="#13" class="mim-tip-reference" title="Hoag, H. M., Taylor, S. A. M., Duncan, A. M. V., Khalifa, M. M. <strong>Evidence that skewed X inactivation is not needed for the phenotypic expression of Aicardi syndrome.</strong> Hum. Genet. 100: 459-464, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9272173/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9272173</a>] [<a href="https://doi.org/10.1007/s004390050534" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9272173">Hoag et al. (1997)</a> found a random X-inactivation pattern in 10 female patients with Aicardi syndrome. This finding was unexpected because skewed X inactivation had been observed in at least one other condition, incontinentia pigmenti, in which the mode of inheritance has been thought to be X-linked dominant mutation, de novo in females and lethal in males. This would be predicted if there were a selection against cells in which the X chromosome carrying the mutant allele was active. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9272173" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Costa, T., Greer, W., Rysiecki, G., Buncic, J. R., Ray, P. N. <strong>Monozygotic twins discordant for Aicardi syndrome.</strong> J. Med. Genet. 34: 688-691, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9279766/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9279766</a>] [<a href="https://doi.org/10.1136/jmg.34.8.688" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9279766">Costa et al. (1997)</a> reported monozygotic twins who were discordant for Aicardi syndrome. Methylation-sensitive RFLP analysis showed a very similar pattern of X inactivation in both twins with no evidence of preferential expression of one particular X chromosome. <a href="#6" class="mim-tip-reference" title="Costa, T., Greer, W., Rysiecki, G., Buncic, J. R., Ray, P. N. <strong>Monozygotic twins discordant for Aicardi syndrome.</strong> J. Med. Genet. 34: 688-691, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9279766/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9279766</a>] [<a href="https://doi.org/10.1136/jmg.34.8.688" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9279766">Costa et al. (1997)</a> concluded that the abnormalities in the affected twin were probably due to a postzygotic event. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9279766" 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 informative samples from 33 girls with Aicardi syndrome, <a href="#10" class="mim-tip-reference" title="Eble, T. N., Sutton, V. R., Sangi-Hahjpeykar, H., Wang, X., Jin, W., Lewis, R. A., Fang, P., Van den Veyver, I. B. <strong>Non-random X chromosome inactivation in Aicardi syndrome.</strong> Hum. Genet. 125: 211-216, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19116729/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19116729</a>] [<a href="https://doi.org/10.1007/s00439-008-0615-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19116729">Eble et al. (2009)</a> found that 11 (33%) had nonrandom X inactivation, with a greater than 80:20 skewed ratio. Six (18%) of these, had an extremely skewed ratio of greater than 95:5. There was a correlation between X-inactivation patterns and clinical severity, such that nonrandom X inactivation was associated with higher neurologic severity. Conversely, random X inactivation was correlated with vertebral anomalies. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19116729" 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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<a href="#25" class="mim-tip-reference" title="Nemos, C., Lambert, L., Giuliano, F., Doray, B., Roubertie, A., Goldenberg, A., Delobel, B., Layet, V., N'guyen, M. A., Saunier, A., Verneau, F., Jonveaux, P., Philippe, C. <strong>Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature.</strong> Clin. Genet. 76: 357-371, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19793311/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19793311</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2009.01194.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19793311">Nemos et al. (2009)</a> excluded mutations in the CDKL5 gene (<a href="/entry/300203">300203</a>) in 10 French patients with Aicardi syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19793311" 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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<a href="#Bertoni1979" class="mim-tip-reference" title="Bertoni, J. M., von Loh, S., Allen, R. J. <strong>The Aicardi syndrome: report of 4 cases and review of the literature.</strong> Ann. Neurol. 5: 475-482, 1979.">Bertoni et al. (1979)</a>; <a href="#Fariello1977" class="mim-tip-reference" title="Fariello, R. G., Chun, R. W. M., Doro, J. M., Buncic, J. R., Prichard, J. S. <strong>EEG recognition of Aicardi's syndrome.</strong> Arch. Neurol. 34: 563-566, 1977.">Fariello et al. (1977)</a>; <a href="#McMahon1984" class="mim-tip-reference" title="McMahon, R. G., Bell, R. A., Moore, G. R. W., Ludwin, S. K. <strong>Aicardi's syndrome: a clinicopathologic study.</strong> Arch. Ophthal. 102: 250-253, 1984.">McMahon et al. (1984)</a>; <a href="#Phillips1978" class="mim-tip-reference" title="Phillips, H. E., Carter, A. P., Kennedy, J. L., Jr., Rosman, N. P., O'Conner, J. F. <strong>Aicardi's syndrome; radiologic manifestations.</strong> Radiology 127: 453-455, 1978.">Phillips et al. (1978)</a>; <a href="#Wettke-Schafer1983" class="mim-tip-reference" title="Wettke-Schafer, R., Kantner, G. <strong>X-linked dominant inherited diseases with lethality in hemizygous males.</strong> Hum. Genet. 64: 1-23, 1983.">Wettke-Schafer and Kantner (1983)</a>; <a href="#Yamamoto1985" class="mim-tip-reference" title="Yamamoto, N., Watanabe, K., Negoro, T., Matsumoto, A., Hara, K., Miyazaki, S., Takeuchi, T. <strong>Aicardi syndrome: report of 6 cases and a review of Japanese literature.</strong> Brain Dev. 7: 443-449, 1985.">Yamamoto
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et al. (1985)</a>
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Aicardi, J.
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Aicardi, J., Chevrie, J. J., Rousselie, F.
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<strong>Le syndrome spasmes en flexion, agenesic calleuse, anomalies chorio-retiniennes.</strong>
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Arch. Franc. Pediat. 26: 1103-1120, 1969.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4314028/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4314028</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4314028" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Ballabio, A., Andria, G.
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<strong>Deletions and translocations involving the distal short arm of the human X chromosome: review and hypotheses.</strong>
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Hum. Molec. Genet. 1: 221-227, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1303191/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1303191</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1303191" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/1.4.221" target="_blank">Full Text</a>]
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<a id="Bertoni1979" class="mim-anchor"></a>
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<p class="mim-text-font">
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Bertoni, J. M., von Loh, S., Allen, R. J.
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<strong>The Aicardi syndrome: report of 4 cases and review of the literature.</strong>
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Ann. Neurol. 5: 475-482, 1979.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/111607/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">111607</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=111607" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ana.410050513" target="_blank">Full Text</a>]
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Bursztejn, A.-C., Bronner, M., Peudenier, S., Gregoire, M.-J., Jonveaux, P., Nemos, C.
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<strong>Molecular characterization of a monosomy 1p36 presenting as an Aicardi syndrome phenocopy.</strong>
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Am. J. Med. Genet. 149A: 2493-2500, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19842196/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19842196</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19842196" 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.33051" target="_blank">Full Text</a>]
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Costa, T., Greer, W., Rysiecki, G., Buncic, J. R., Ray, P. N.
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<strong>Monozygotic twins discordant for Aicardi syndrome.</strong>
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J. Med. Genet. 34: 688-691, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9279766/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9279766</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9279766" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmg.34.8.688" target="_blank">Full Text</a>]
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Curatolo, P., Libutti, G., Dallapiccola, B.
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<strong>Aicardi syndrome in a male infant.</strong>
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J. Pediat. 96: 286-287, 1980.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7351599/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7351599</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7351599" 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/s0022-3476(80)80830-4" target="_blank">Full Text</a>]
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Dennis, J., Bower, B. D.
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<strong>The Aicardi syndrome.</strong>
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Develop. Med. Child. Neurol. 14: 382-390, 1972.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4624502/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4624502</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4624502" 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/10.1111/j.1469-8749.1972.tb02604.x" target="_blank">Full Text</a>]
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Donnenfeld, A. E., Packer, R. J., Zackai, E. H., Chee, C. M., Sellinger, B., Emanuel, B. S.
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<strong>Clinical, cytogenetic, and pedigree findings in 18 cases of Aicardi syndrome.</strong>
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Am. J. Med. Genet. 32: 461-467, 1989.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2773986/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2773986</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2773986" 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.1320320405" target="_blank">Full Text</a>]
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Eble, T. N., Sutton, V. R., Sangi-Hahjpeykar, H., Wang, X., Jin, W., Lewis, R. A., Fang, P., Van den Veyver, I. B.
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<strong>Non-random X chromosome inactivation in Aicardi syndrome.</strong>
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Hum. Genet. 125: 211-216, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19116729/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19116729</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19116729" 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/s00439-008-0615-4" target="_blank">Full Text</a>]
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Fariello, R. G., Chun, R. W. M., Doro, J. M., Buncic, J. R., Prichard, J. S.
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<strong>EEG recognition of Aicardi's syndrome.</strong>
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Arch. Neurol. 34: 563-566, 1977.
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[<a href="https://doi.org/10.1007/s004390050534" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1440-1754.1979.tb01246.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.32985" target="_blank">Full Text</a>]
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<a id="Sato1987" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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|
Sato, N., Matsuishi, T., Utsunomiya, H., Yamashita, Y., Horikoshi, T., Okudera, T., Hashimoto, T.
|
|
<strong>Aicardi syndrome with holoprosencephaly and cleft lip and palate.</strong>
|
|
Pediat. Neurol. 3: 114-116, 1987.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3508052/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3508052</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3508052" 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/10.1016/0887-8994(87)90039-7" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="31" class="mim-anchor"></a>
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<a id="Schmidt1992" class="mim-anchor"></a>
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<div class="">
|
|
<p class="mim-text-font">
|
|
Schmidt, M., Du Sart, D.
|
|
<strong>Functional disomies of the X chromosome influence the cell selection and hence the X inactivation pattern in females with balances X-autosome translocations: a review of 122 cases.</strong>
|
|
Am. J. Med. Genet. 42: 161-169, 1992.
|
|
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|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1733164/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1733164</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1733164" 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.1320420205" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="32" class="mim-anchor"></a>
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<a id="Sutton2005" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
|
|
Sutton, V. R., Hopkins, B. J., Eble, T. N., Gambhir, N., Lewis, R. A., Van den Veyver, I. B.
|
|
<strong>Facial and physical features of Aicardi syndrome: infants to teenagers.</strong>
|
|
Am. J. Med. Genet. 138A: 254-258, 2005.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16158440/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16158440</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16158440" 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.30963" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="33" class="mim-anchor"></a>
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<a id="Trifiletti1995" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
|
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Trifiletti, R. R., Incorpora, G., Polizzi, A., Cocuzza, M. D., Bolan, E. A., Parano, E.
|
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<strong>Aicardi syndrome with multiple tumors: a case report with literature review.</strong>
|
|
Brain Dev. 17: 283-285, 1995.
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|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7503393/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7503393</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7503393" 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/10.1016/0387-7604(95)00045-d" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="34" class="mim-anchor"></a>
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<a id="Tsao1993" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
|
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Tsao, C. Y., Sommer, A., Hamoudi, A. B.
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<strong>Aicardi syndrome, metastatic angiosarcoma of the leg, and scalp lipoma.</strong>
|
|
Am. J. Med. Genet. 45: 594-596, 1993.
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|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8456830/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8456830</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8456830" 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.1320450515" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="35" class="mim-anchor"></a>
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<a id="Wettke-Schafer1983" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wettke-Schafer, R., Kantner, G.
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<strong>X-linked dominant inherited diseases with lethality in hemizygous males.</strong>
|
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Hum. Genet. 64: 1-23, 1983.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6873941/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6873941</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6873941" 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/BF00289472" target="_blank">Full Text</a>]
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<li>
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<a id="36" class="mim-anchor"></a>
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<a id="Wolf1980" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wolf, U., Fraccaro, M., Mayerova, A., Hecht, T., Maraschio, P., Hameister, H.
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<strong>A gene controlling H-Y antigen on the X chromosome: tentative assignment by deletion mapping to Xp223.</strong>
|
|
Hum. Genet. 54: 149-154, 1980.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7390489/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7390489</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7390489" 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/BF00278963" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="37" class="mim-anchor"></a>
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<a id="Yamamoto1985" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Yamamoto, N., Watanabe, K., Negoro, T., Matsumoto, A., Hara, K., Miyazaki, S., Takeuchi, T.
|
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<strong>Aicardi syndrome: report of 6 cases and a review of Japanese literature.</strong>
|
|
Brain Dev. 7: 443-449, 1985.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4061784/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4061784</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4061784" 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/s0387-7604(85)80145-5" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 7/12/2011
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</span>
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</div>
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</div>
|
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<div class="row collapse" id="mimCollapseContributors">
|
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 2/10/2011<br>Cassandra L. Kniffin - updated : 11/18/2010<br>Cassandra L. Kniffin - updated : 5/20/2009<br>Cassandra L. Kniffin - updated : 3/3/2009<br>Victor A. McKusick - updated : 12/1/2006<br>Marla J. F. O'Neill - updated : 10/25/2005<br>Victor A. McKusick - updated : 6/11/1998<br>Michael J. Wright - updated : 2/11/1998<br>Victor A. McKusick - updated : 9/12/1997<br>Orest Hurko - updated : 4/1/1996
|
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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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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
|
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<span class="text-nowrap mim-text-font">
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Creation Date:
|
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</span>
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</div>
|
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
|
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Victor A. McKusick : 6/4/1986
|
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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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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
|
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
|
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
|
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</span>
|
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</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
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mgross : 09/11/2012
|
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</span>
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</div>
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</div>
|
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<div class="row collapse" id="mimCollapseEditHistory">
|
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
|
|
terry : 8/13/2012<br>alopez : 8/6/2012<br>alopez : 8/3/2012<br>wwang : 7/22/2011<br>ckniffin : 7/12/2011<br>wwang : 4/14/2011<br>ckniffin : 2/10/2011<br>wwang : 12/7/2010<br>ckniffin : 11/18/2010<br>wwang : 6/1/2009<br>ckniffin : 5/20/2009<br>wwang : 3/10/2009<br>ckniffin : 3/3/2009<br>terry : 11/19/2008<br>carol : 11/7/2008<br>carol : 10/31/2008<br>carol : 5/5/2008<br>terry : 12/1/2006<br>wwang : 10/26/2005<br>terry : 10/25/2005<br>mgross : 3/17/2004<br>alopez : 3/26/2003<br>carol : 3/29/1999<br>carol : 6/11/1998<br>dholmes : 6/10/1998<br>alopez : 2/18/1998<br>terry : 2/11/1998<br>mark : 9/19/1997<br>terry : 9/12/1997<br>terry : 9/10/1997<br>terry : 4/15/1996<br>terry : 4/1/1996<br>terry : 3/22/1996<br>terry : 8/24/1994<br>warfield : 4/19/1994<br>mimadm : 2/27/1994<br>carol : 3/24/1993<br>carol : 12/31/1992<br>carol : 3/31/1992
|
|
</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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|
<div class="container visible-print-block">
|
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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|
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<div>
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<div>
|
|
<h3>
|
|
<span class="mim-font">
|
|
<strong>%</strong> 304050
|
|
</span>
|
|
</h3>
|
|
</div>
|
|
|
|
<div>
|
|
<h3>
|
|
<span class="mim-font">
|
|
|
|
AICARDI SYNDROME; AIC
|
|
|
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</span>
|
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</h3>
|
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</div>
|
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<div>
|
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<br />
|
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</div>
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<div>
|
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<div >
|
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<p>
|
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<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
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</span>
|
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</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
CORPUS CALLOSUM, AGENESIS OF, WITH CHORIORETINAL ABNORMALITY
|
|
</span>
|
|
</h4>
|
|
</div>
|
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
|
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<p>
|
|
<span class="mim-text-font">
|
|
|
|
<strong>SNOMEDCT:</strong> 80651009;
|
|
|
|
|
|
|
|
|
|
<strong>ORPHA:</strong> 50;
|
|
|
|
|
|
<strong>DO:</strong> 8461;
|
|
|
|
|
|
</span>
|
|
</p>
|
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</div>
|
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<div>
|
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<br />
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</div>
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<div>
|
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<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: Xp22
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : X:1-24,900,000 </span>
|
|
</em>
|
|
</strong>
|
|
|
|
</span>
|
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</p>
|
|
</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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<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
Xp22
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Aicardi syndrome
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
304050
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
X-linked dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
2
|
|
</span>
|
|
</td>
|
|
|
|
|
|
</tr>
|
|
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
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</div>
|
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<div>
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<br />
|
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</div>
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<div>
|
|
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</h4>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Aicardi syndrome is characterized by a triad of callosal agenesis, infantile spasms, and chorioretinal lacunae ('holes'). Flexion spasms in the infant represent the usual mode of clinical presentation (Aicardi, 1999).</p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Clinical Features</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<span class="mim-text-font">
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<p>Aicardi et al. (1969) reported 15 cases, all in females. </p><p>Dennis and Bower (1972) described a female patient who, in addition to infantile spasms, mental subnormality, specific chorioretinopathy, and 'split brain,' had evidence of heterotopia of the brain by pneumoencephalogram, vertebral anomalies, and characteristic EEG changes. </p><p>Molina et al. (1989) reported the disorder in 2 sisters, the first observation of affected sibs. The parents were healthy. Germinal mosaicism is a possible explanation. </p><p>McPherson and Jones (1990) observed cleft lip and palate in Aicardi syndrome and referred to 2 similar previously reported cases. Jones and McPherson (1992) noted that one of the 2 previously reported cases (McPherson and Jones (1990)) had been reported by Robinow et al. (1984). In addition, Robinow had brought to their attention another case of Aicardi syndrome with cleft lip and palate (Sato et al., 1987), bringing the total number of such patients to 4. The patient of Sato et al. (1987) also had holoprosencephaly, another midline defect that may occur occasionally in Aicardi syndrome. </p><p>In an infant girl with Aicardi syndrome, Tsao et al. (1993) found associated scalp lipomas and a cavernous hemangioma of the leg which became malignant at 11 months, with distant metastases from metastatic angiosarcoma causing death at age 19 months. </p><p>Trifiletti et al. (1995) reported a 5-year-old girl with choroid plexus papilloma and multiple gastric hyperplastic polyps, and referred to previous cases of Aicardi syndrome associated with brain tumors, especially choroid plexus papilloma. </p><p>Menezes et al. (1994) described unusually mild Aicardi syndrome in a 10-year-old girl whose symptoms included poorly controlled seizure disorder, typical lacunar retinopathy, partial hypoplasia of the corpus callosum, and developmental delay of 4 to 5 years with marked inattentiveness. King et al. (1998) described an even milder case: a 49-year-old woman who was not severely mentally disabled and whose epilepsy had been well-controlled. She had dysgenesis of the corpus callosum and chorioretinal lacunae, which are typical of Aicardi syndrome. She had previously been diagnosed with cerebral and retinal toxoplasmosis, but there were no intracranial calcifications to support that diagnosis. </p><p>Sutton et al. (2005) studied 40 girls with Aicardi syndrome and determined that consistent facial features appeared in over half of them, including a prominent premaxilla, upturned nasal tip, decreased angle of the nasal bridge, and sparse lateral eyebrows. Externally apparent microphthalmia was seen in 10 (25%). Sutton et al. (2005) concluded that Aicardi syndrome has a distinctive facial phenotype. </p><p>Kamien and Gabbett (2009) reported a girl with features of Aicardi syndrome, including infantile spasms, chorioretinal lacunae, partial agenesis of the corpus callosum, and neuronal migration abnormalities, including nodular heterotopia and polymicrogyria. Dysmorphic features included upslanting palpebral fissures, an upturned nasal tip, deep philtrum, and large ears. In addition, she had a hepatoblastoma and intralobar pulmonary sequestration with congenital cystic adenomatoid malformation. </p><p><strong><em>Neuroradiologic Findings</em></strong></p><p>
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Hopkins et al. (2008) reported detailed brain MRI findings of 23 patients with Aicardi syndrome, performed at ages 1 day to 7.2 years. There were 22 girls and one 47,XXY male. All patients had polymicrogyria and periventricular heterotopia. Polymicrogyria was mainly in the frontal or perisylvian regions. Widening of the operculum was observed in 13 (72%) of 18 patients. Twenty (95%) patients had intracranial cysts, and 20 (95%) had cerebellar abnormalities, including superior foliar prominence of the vermis, inferior vermian hypoplasia, and dysplastic or hypoplastic cerebellar hemispheres. An enlarged cisterna magna was present in 11 (55%), and 4 (20%) had cerebellar cysts. Ten patients had tectal enlargements. The findings were consistent with a neuronal migration disorder and asymmetric brain development. </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>Cytogenetics</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>Ropers et al. (1982) reported a case of Aicardi syndrome in a girl with presumably balanced X/3 translocation. They postulated that the clinical picture was due to chromosome breakage in the Aicardi locus. The breakpoint was in Xp22, between p22.2 and p22.3. This is the same region as steroid sulfatase, XG (300879), and a gene controlling a serologically defined, male-specific antigen, SDM (Wolf et al., 1980). According to Frezal (1987), Aicardi doubted the validity of the diagnosis in the case of Ropers et al. (1982). Neidich et al. (1988) found 2 new patients with Aicardi syndrome and Xp22 abnormalities. They stated that all patients have been either XX female or 47,XXY Klinefelter syndrome. </p><p>Nielsen et al. (1991) used 5 DNA markers from the Xp22.3-p21.3 region to study the DNA from a patient with Aicardi syndrome. No evidence for a microdeletion was observed. </p><p>Ballabio and Andria (1992) analyzed deletions and translocations involving the distal short arm of the X chromosome. Their Figure 2 showed the order of genes in the region Xp22.3-p22.2: short stature (SS; 312865), X-linked recessive chondrodysplasia punctata (CDPX1; 302950), mental retardation (MRX2; 300428), X-linked ichthyosis (XLI; 308100), Kallmann syndrome (KAL; 308700), and, in the most proximal area, Aicardi syndrome and focal dermal hypoplasia (FDH; 305600). The last 2 lyonize, and with deletions males are nullisomic, a presumably lethal state. Females with monosomy show a mosaic pattern. The first 5 loci, which escape lyonization, behave as recessive traits. Schmidt and Du Sart (1992) presented evidence suggesting that in some X/autosomal translocations, the phenotype results from the functional disomy of the region of the X chromosome that is translocated to the autosome. </p><p>Bursztejn et al. (2009) reported an 8-year-old girl with an initial clinical diagnosis of Aicardi syndrome who was subsequently found to carry a de novo 11.73-Mb terminal deletion of chromosome 1p36 (607872), thus revising the diagnosis. She had onset of infantile spasms at age 3 months, bilateral pupillary coloboma, agenesis of the corpus callosum, and delayed psychomotor development. The report emphasized the phenotypic overlap between the 2 disorders. </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>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 inheritance of Aicardi syndrome is probably X-linked dominant with lethality in the hemizygous male. All cases would, on this hypothesis, be new mutations (Aicardi et al., 1969; Aicardi, 1999). </p><p>Hopkins et al. (1979) described the Aicardi syndrome in a 47,XXY male. This is, of course, consistent with the above suggested inheritance. </p><p>The affected male reported by Curatolo et al. (1980) argues against X-linked dominant inheritance with male lethality. </p><p>In 18 girls with Aicardi syndrome identified through a survey of neurologists, geneticists, and ophthalmologists, Donnenfeld et al. (1989) found complete agenesis of the corpus callosum in 72% and partial agenesis in 28%. Costovertebral defects including hemivertebrae, scoliosis, and absent or malformed ribs were present in 39%. Chromosomes in all patients and their parents were normal. An unbalanced X;3 translocation involving a breakpoint at Xp22.3 was discovered in a girl with chorioretinal lacunar lesions characteristic of Aicardi syndrome, developmental delay, and infantile seizures. Because the child had a normal-appearing corpus callosum on CT and magnetic resonance scans, she did not meet the criteria for inclusion in the study. Family studies showed a ratio of unaffected male:female sibs of 1:1.7 and a 14% spontaneous abortion rate. The findings were considered consistent with the view that Aicardi syndrome is an X-linked dominant disorder with early embryonic lethality in hemizygous males and that all cases represent new mutations. The finding in the atypical case is consistent with location of the gene in the Xp22.3 area. </p><p><strong><em>X-Inactivation Studies</em></strong></p><p>
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Neidich et al. (1990) studied X inactivation in peripheral lymphocytes in 7 patients by means of 2 methods: methylation-sensitive restriction analysis and segregation of the active X chromosome in somatic cell hybrids. They found that 3 of the 7 cytogenetically normal girls with Aicardi syndrome had profoundly skewed X inactivation in their lymphocytes, supporting the concept that Aicardi syndrome is X-linked. Three of the 5 girls with the greatest degree of psychomotor retardation and the poorest seizure control had skewed X inactivation. In contrast, the 2 highest functioning children had random X inactivation. No evidence of deletion was found with 8 polymorphic DNA probes from the Xp22 region. </p><p>Using the highly polymorphic, differentially methylated androgen receptor gene (313700), Hoag et al. (1997) found a random X-inactivation pattern in 10 female patients with Aicardi syndrome. This finding was unexpected because skewed X inactivation had been observed in at least one other condition, incontinentia pigmenti, in which the mode of inheritance has been thought to be X-linked dominant mutation, de novo in females and lethal in males. This would be predicted if there were a selection against cells in which the X chromosome carrying the mutant allele was active. </p><p>Costa et al. (1997) reported monozygotic twins who were discordant for Aicardi syndrome. Methylation-sensitive RFLP analysis showed a very similar pattern of X inactivation in both twins with no evidence of preferential expression of one particular X chromosome. Costa et al. (1997) concluded that the abnormalities in the affected twin were probably due to a postzygotic event. </p><p>In informative samples from 33 girls with Aicardi syndrome, Eble et al. (2009) found that 11 (33%) had nonrandom X inactivation, with a greater than 80:20 skewed ratio. Six (18%) of these, had an extremely skewed ratio of greater than 95:5. There was a correlation between X-inactivation patterns and clinical severity, such that nonrandom X inactivation was associated with higher neurologic severity. Conversely, random X inactivation was correlated with vertebral anomalies. </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>Molecular Genetics</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><strong><em>Exclusion Studies</em></strong></p><p>
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Nemos et al. (2009) excluded mutations in the CDKL5 gene (300203) in 10 French patients with Aicardi syndrome. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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Bertoni et al. (1979); Fariello et al. (1977); McMahon et al. (1984);
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Phillips et al. (1978); Wettke-Schafer and Kantner (1983); Yamamoto
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et al. (1985)
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<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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Aicardi, J.
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<strong>Aicardi syndrome: old and new findings.</strong>
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Int. Pediat. 14: 5-8, 1999.
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</p>
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</li>
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<p class="mim-text-font">
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Aicardi, J., Chevrie, J. J., Rousselie, F.
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<strong>Le syndrome spasmes en flexion, agenesic calleuse, anomalies chorio-retiniennes.</strong>
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Arch. Franc. Pediat. 26: 1103-1120, 1969.
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Ballabio, A., Andria, G.
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<strong>Deletions and translocations involving the distal short arm of the human X chromosome: review and hypotheses.</strong>
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Hum. Molec. Genet. 1: 221-227, 1992.
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Bursztejn, A.-C., Bronner, M., Peudenier, S., Gregoire, M.-J., Jonveaux, P., Nemos, C.
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<strong>Molecular characterization of a monosomy 1p36 presenting as an Aicardi syndrome phenocopy.</strong>
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Costa, T., Greer, W., Rysiecki, G., Buncic, J. R., Ray, P. N.
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<strong>Monozygotic twins discordant for Aicardi syndrome.</strong>
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Curatolo, P., Libutti, G., Dallapiccola, B.
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<strong>Aicardi syndrome in a male infant.</strong>
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J. Pediat. 96: 286-287, 1980.
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Dennis, J., Bower, B. D.
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<strong>The Aicardi syndrome.</strong>
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Develop. Med. Child. Neurol. 14: 382-390, 1972.
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[PubMed: 4624502]
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[Full Text: https://doi.org/10.1111/j.1469-8749.1972.tb02604.x]
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Donnenfeld, A. E., Packer, R. J., Zackai, E. H., Chee, C. M., Sellinger, B., Emanuel, B. S.
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<strong>Clinical, cytogenetic, and pedigree findings in 18 cases of Aicardi syndrome.</strong>
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Am. J. Med. Genet. 32: 461-467, 1989.
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[PubMed: 2773986]
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[Full Text: https://doi.org/10.1002/ajmg.1320320405]
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<p class="mim-text-font">
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Eble, T. N., Sutton, V. R., Sangi-Hahjpeykar, H., Wang, X., Jin, W., Lewis, R. A., Fang, P., Van den Veyver, I. B.
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<strong>Non-random X chromosome inactivation in Aicardi syndrome.</strong>
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Hum. Genet. 125: 211-216, 2009.
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Fariello, R. G., Chun, R. W. M., Doro, J. M., Buncic, J. R., Prichard, J. S.
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<strong>EEG recognition of Aicardi's syndrome.</strong>
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Arch. Neurol. 34: 563-566, 1977.
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Frezal, J.
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<strong>Personal Communication.</strong>
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Paris, France 1/30/1987.
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Hoag, H. M., Taylor, S. A. M., Duncan, A. M. V., Khalifa, M. M.
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<strong>Evidence that skewed X inactivation is not needed for the phenotypic expression of Aicardi syndrome.</strong>
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Hum. Genet. 100: 459-464, 1997.
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[PubMed: 9272173]
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[Full Text: https://doi.org/10.1007/s004390050534]
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Hopkins, B., Sutton, V. R., Lewis, R. A., Van den Veyver, I., Clark, G.
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<strong>Neuroimaging aspects of Aicardi syndrome.</strong>
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Am. J. Med. Genet. 146A: 2871-2878, 2008.
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Hopkins, I. J., Humphrey, I., Keith, G. G., Susman, M., Webb, G. C., Turner, E. K.
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<strong>The Aicardi syndrome in a 47,XXY male.</strong>
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Aust. Paediat. J. 15: 278-280, 1979.
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[PubMed: 546395]
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[Full Text: https://doi.org/10.1111/j.1440-1754.1979.tb01246.x]
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<li>
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<p class="mim-text-font">
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Jones, S. M., McPherson, E.
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<strong>Cleft lip and palate in Aicardi syndrome. (Letter)</strong>
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Am. J. Med. Genet. 42: 219 only, 1992.
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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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Kamien, B. A., Gabbett, M. T.
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<strong>Aicardi syndrome associated with hepatoblastoma and pulmonary sequestration. (Letter)</strong>
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Am. J. Med. Genet. 149A: 1850-1852, 2009.
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[PubMed: 19610089]
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[Full Text: https://doi.org/10.1002/ajmg.a.32985]
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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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King, A. M., Bowen, D. I., Goulding, P., Doran, R. M. L.
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<strong>Aicardi syndrome. (Letter)</strong>
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Brit. J. Ophthal. 82: 457 only, 1998.
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[PubMed: 9640202]
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[Full Text: https://doi.org/10.1136/bjo.82.4.456a]
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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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McMahon, R. G., Bell, R. A., Moore, G. R. W., Ludwin, S. K.
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<strong>Aicardi's syndrome: a clinicopathologic study.</strong>
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Arch. Ophthal. 102: 250-253, 1984.
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[PubMed: 6696671]
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[Full Text: https://doi.org/10.1001/archopht.1984.01040030200026]
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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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McPherson, E., Jones, S. M.
|
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<strong>Cleft lip and palate in Aicardi syndrome.</strong>
|
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Am. J. Med. Genet. 37: 318-319, 1990. Note: Erratum: Am. J. Med. Genet. 42: 219 only, 1992.
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[PubMed: 2260557]
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[Full Text: https://doi.org/10.1002/ajmg.1320370305]
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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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Menezes, A. V., Enzenauer, R. W., Buncic, J. R.
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<strong>Aicardi syndrome--the elusive mild case.</strong>
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Brit. J. Ophthal. 78: 494-496, 1994.
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[PubMed: 8060941]
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[Full Text: https://doi.org/10.1136/bjo.78.6.494]
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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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Molina, J. A., Mateos, F., Merino, M., Epifanio, J. L., Gorrono, M.
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<strong>Aicardi syndrome in 2 sisters.</strong>
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