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Entry
- #242840 - VICI SYNDROME; VICIS
- OMIM
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<span class="h4">#242840</span>
<br />
<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/242840"><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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<li role="presentation" style="margin-left: 1em">
<a href="#otherFeatures">Other Features</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#inheritance">Inheritance</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#pathogenesis">Pathogenesis</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=VICI 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>
<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=1665&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>
<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK584989/" 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 id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://www.alliancegenome.org/disease/DOID:0060356" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
<div><a href="http://www.informatics.jax.org/disease/242840" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
<div><a href="https://omia.org/OMIA000197/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
<div><a href="https://wormbase.org/resources/disease/DOID:0060356" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
</div>
</div>
</div>
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
<span class="panel-title">
<span class="small">
<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
<div style="display: table-row">
<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Cell Lines</div>
</div>
</a>
</span>
</span>
</div>
<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://catalog.coriell.org/Search?q=OmimNum:242840" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
</div>
</div>
</div>
</div>
</div>
</div>
<span>
<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.">
&nbsp;
</span>
</span>
</div>
<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
<div>
<a id="title" class="mim-anchor"></a>
<div>
<a id="number" class="mim-anchor"></a>
<div class="text-right">
<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
<strong>SNOMEDCT:</strong> 719824001<br />
<strong>ORPHA:</strong> 1493<br />
<strong>DO:</strong> 0060356<br />
">ICD+</a>
</div>
<div>
<span class="h3">
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
242840
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
VICI SYNDROME; VICIS
</span>
</h3>
</div>
<div>
<br />
</div>
<div>
<a id="alternativeTitles" class="mim-anchor"></a>
<div>
<p>
<span class="mim-font">
<em>Alternative titles; symbols</em>
</span>
</p>
</div>
<div>
<h4>
<span class="mim-font">
IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM
</span>
</h4>
</div>
</div>
<div>
<br />
</div>
</div>
<div>
<a id="phenotypeMap" class="mim-anchor"></a>
<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
</span>
</h4>
<div>
<table class="table table-bordered table-condensed table-hover 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>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/18/153?start=-3&limit=10&highlight=153">
18q12.3-q21.1
</a>
</span>
</td>
<td>
<span class="mim-font">
Vici syndrome
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/242840"> 242840 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
EPG5
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615068"> 615068 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<div class="btn-group ">
<a href="/clinicalSynopsis/242840" class="btn btn-warning" role="button"> Clinical Synopsis </a>
<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')">
<span class="caret"></span>
<span class="sr-only">Toggle Dropdown</span>
</button>
</div>
&nbsp;
<div class="btn-group">
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
PheneGene Graphics <span class="caret"></span>
</button>
<ul class="dropdown-menu" style="width: 17em;">
<li><a href="/graph/linear/242840" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/242840" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
</ul>
</div>
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
<div>
<p />
</div>
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small" style="margin: 5px">
<div>
<div>
<span class="h5 mim-font">
<strong> INHERITANCE </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> GROWTH </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Other </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Failure to thrive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/432788009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">432788009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/54840006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">54840006</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0015544&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0015544</a>, <a href="https://bioportal.bioontology.org/search?q=C2315100&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2315100</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001508</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001508</a>]</span><br /> -
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 />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> HEAD & NECK </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Head </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- 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="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Microcephaly-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=0584d323b99dcd7001cc50e224947aca&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Face </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Hypertelorism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22006008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22006008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q75.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q75.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/376.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">376.41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020534&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020534</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000316" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000316</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000316" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000316</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=593a4d488f00bb03351a0ddffaf4ac9a" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Eyes,Widely_Spaced-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=593a4d488f00bb03351a0ddffaf4ac9a&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Ears </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Low-set ears <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95515009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95515009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q17.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q17.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0239234&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0239234</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000369" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000369</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000369" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000369</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=9f0956aaa4fd45c34f94336afbbdc931" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Ear,Low-Set-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=9f0956aaa4fd45c34f94336afbbdc931&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Sensorineural hearing loss (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/60700002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">60700002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H90.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H90.5</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/389.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389.10</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/389.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018784&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018784</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000407" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000407</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000407" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000407</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Eyes </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Bilateral cataracts <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95722004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95722004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0521707&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0521707</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">[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 /> -
Ocular albinism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/26399002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">26399002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E70.31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E70.31</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/E70.319" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E70.319</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0078917&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0078917</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001107" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001107</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001107" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001107</a>]</span><br /> -
Retinal hypopigmentation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95694000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95694000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151891&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151891</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007894" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007894</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 />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Mouth </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- 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 /> -
Micrognathia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/32958008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">32958008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M26.04" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M26.04</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/524.04" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">524.04</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0025990&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025990</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000347" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000347</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000347" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000347</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=9149eccae19753e96defbd69602ab882" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Micrognathia-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=9149eccae19753e96defbd69602ab882&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> CARDIOVASCULAR </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Heart </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Cardiomyopathy, dilated <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/399020009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">399020009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/195021004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">195021004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I42.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I42.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0007193&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0007193</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001644" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001644</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001644" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001644</a>]</span><br /> -
Left ventricular hypertrophy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/55827005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">55827005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0149721&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0149721</a>, <a href="https://bioportal.bioontology.org/search?q=C3484363&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3484363</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001712" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001712</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001712" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001712</a>]</span><br /> -
Systolic dysfunction <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/371037005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">371037005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0749225&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0749225</a>]</span><br /> -
Heart failure <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/84114007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">84114007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/42343007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">42343007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I50" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I50</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/I50.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I50.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/428.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">428.0</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/428" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">428</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/428.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">428.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018802&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018802</a>, <a href="https://bioportal.bioontology.org/search?q=C0018801&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018801</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001635" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001635</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001635" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001635</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> Airways </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Recurrent respiratory tract infections <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0863094&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0863094</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> GENITOURINARY </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> External Genitalia (Male) </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Hypospadias, penile <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204888000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204888000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q54.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q54.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/752.61" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">752.61</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1691215&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1691215</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003244" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003244</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Kidneys </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Renal tubular acidosis (2 sibs) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1776003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1776003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N25.89" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N25.89</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0001126&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0001126</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001947" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001947</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001947" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001947</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">
- Skin hypopigmentation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/18655006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">18655006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/23006000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">23006000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/89031001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">89031001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0162835&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0162835</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001010" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001010</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001010" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001010</a>]</span><br /> -
Cutaneous albinism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/6479008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">6479008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5848166&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5848166</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007443" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007443</a>]</span><br /> -
Chronic mucocutaneous candidiasis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/234568006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">234568006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0006845&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0006845</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002728" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002728</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002728" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002728</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">
- Hair hypopigmentation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3278401&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3278401</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005599" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005599</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005599" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005599</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MUSCLE, SOFT TISSUES </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Hypotonia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398151007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398151007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398152000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398152000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026827&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026827</a>, <a href="https://bioportal.bioontology.org/search?q=C1858120&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1858120</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001290" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001290</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001252</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001252</a>]</span><br /> -
Myopathy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/129565002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">129565002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G72.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G72.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M62.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M62.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M60-M63" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M60-M63</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/359.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">359.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026848&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026848</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003198" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003198</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003198" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003198</a>]</span><br /> -
Variation in fiber size <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837325&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837325</a>]</span><br /> -
Internal nuclei <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836163&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836163</a>]</span><br /> -
Abnormal mitochondria <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3278399&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3278399</a>]</span><br /> -
Numerous vacuole-like areas <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3550466&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3550466</a>]</span><br /> -
Redundancy of basal lamina with accumulated debris <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3550467&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3550467</a>]</span><br />
</span>
</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">
- 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 /> -
Abnormal posturing <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/43029002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">43029002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R29.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R29.3</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/781.92" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">781.92</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0231471&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0231471</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002533" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002533</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002533" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002533</a>]</span><br /> -
Corpus callosum agenesis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/5102002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">5102002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q04.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q04.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0175754&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0175754</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001274" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001274</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001274" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001274</a>]</span><br /> -
Cerebellar vermis hypoplasia <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 /> -
Profound psychomotor retardation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855773&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855773</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012736" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012736</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398991009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398991009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1144814003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1144814003</a>]</span><br /> -
White matter neuronal heterotopia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855774&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855774</a>]</span><br /> -
Bilateral schizencephaly <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855775&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855775</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253159001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253159001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/38353004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">38353004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q04.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q04.6</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010636" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010636</a>]</span><br /> -
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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<strong> IMMUNOLOGY </strong>
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- Recurrent bacterial, viral, and fungal infections <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855778&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855778</a>]</span><br /> -
Skin anergy to recall antigens <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855779&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855779</a>]</span><br /> -
Profound depletion of T4+ lymphocytes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1846550&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1846550</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005419" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005419</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005419" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005419</a>]</span><br /> -
Thymic hypoplasia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/767263007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">767263007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/93297002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">93297002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D82.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D82.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/279.11" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">279.11</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0685891&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0685891</a>, <a href="https://bioportal.bioontology.org/search?q=C0012236&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0012236</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000778" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000778</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000778" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000778</a>]</span><br /> -
Lack of delayed skin hypersensitivity reaction <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855781&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855781</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002965" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002965</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002965" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002965</a>]</span><br /> -
Decreased serum immunoglobulins <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/119250001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">119250001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D80.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D80.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/279.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">279.00</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0086438&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0086438</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004313" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004313</a>]</span><br /> -
Defective humoral response <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3278400&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3278400</a>]</span><br />
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<strong> LABORATORY ABNORMALITIES </strong>
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- Reduced IgG levels, particularly IgG2 subclass <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859633&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859633</a>]</span><br /> -
Normal IgA levels <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855782&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855782</a>]</span><br /> -
Normal IgM levels <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855783&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855783</a>]</span><br />
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<strong> MISCELLANEOUS </strong>
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- Onset at birth <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836142&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836142</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003577" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003577</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003577" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003577</a>]</span><br /> -
Early death often occurs from cardiac failure or infection<br /> -
Immunologic defects are variable<br />
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<strong> MOLECULAR BASIS </strong>
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- Caused by mutation in the ectopic P-granules autophagy protein 5 homolog gene (EPG5, <a href="/entry/615068#0001">615068.0001</a>)<br />
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<p>A number sign (#) is used with this entry because Vici syndrome (VICIS) is caused by homozygous or compound heterozygous mutation in the EPG5 gene (<a href="/entry/615068">615068</a>) on chromosome 18q.</p>
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<p>Vici syndrome (VICIS) is a rare congenital multisystem disorder characterized by agenesis of the corpus callosum (ACC), cataracts, pigmentary defects, progressive cardiomyopathy, and variable immunodeficiency. Affected individuals also have profound psychomotor retardation and hypotonia due to a myopathy (summary by <a href="#7" class="mim-tip-reference" title="Finocchi, A., Angelino, G., Cantarutti, N., Corbari, M., Bevivino, E., Cascioli, S., Randisi, F., Bertini, E., Dionisi-Vici, C. &lt;strong&gt;Immunodeficiency in Vici syndrome: a heterogeneous phenotype.&lt;/strong&gt; Am. J. Med. Genet. 158A: 434-439, 2012.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21965116/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;21965116&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.34244&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="21965116">Finocchi et al., 2012</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21965116" 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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<strong>Clinical Features</strong>
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<p><a href="#5" class="mim-tip-reference" title="Dionisi Vici, C., Sabetta, G., Gambarara, M., Vigevano, F., Bertini, E., Boldrini, R., Parisi, S. G., Quinti, I., Aiuti, F., Fiorilli, M. &lt;strong&gt;Agenesis of the corpus callosum, combined immunodeficiency, bilateral cataract, and hypopigmentation in two brothers.&lt;/strong&gt; Am. J. Med. Genet. 29: 1-8, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3344762/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3344762&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320290102&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3344762">Dionisi Vici et al. (1988)</a> described 2 brothers with a malformation syndrome consisting of agenesis of the corpus callosum, cutaneous hypopigmentation, bilateral cataract, cleft lip and palate, and combined immunodeficiency. The sibs suffered from severe psychomotor retardation, seizures, recurrent severe respiratory infections, and chronic mucocutaneous candidiasis. They died of bronchopneumonia at ages 2 and 3 years. In the 1 sib studied, skin anergy to recall antigens, profound depletion of T4-positive lymphocytes, and deficiency of serum IgG2 were demonstrated. Autopsy showed agenesis of the corpus callosum, hypoplasia of the cerebellar vermis, and profound hypoplasia of the thymus and of the peripheral lymphoid tissue. No precisely similar cases were found. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3344762" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="del Campo, M., Hall, B. D., Aeby, A., Nassogne, M.-C., Verloes, A., Roche, C., Gonzalez, C., Sanchez, H., Garcia-Alix, A., Cabanas, F., Escudero, R. M., Hernandez, R., Quero, J. &lt;strong&gt;Albinism and agenesis of the corpus callosum with profound developmental delay: Vici syndrome, evidence for autosomal recessive inheritance.&lt;/strong&gt; Am. J. Med. Genet. 85: 479-485, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10405446/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10405446&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(sici)1096-8628(19990827)85:5&lt;479::aid-ajmg9&gt;3.3.co;2-4&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10405446">Del Campo et al. (1999)</a> reported 4 more cases (including 2 sibs, a male and a female) of this disorder. Their patients had agenesis of the corpus callosum, oculocutaneous albinism, repeated infections suggestive of an immunodeficiency, cardiomyopathy, postnatal growth retardation, microcephaly, and profound developmental delay. The authors suggested that these cases confirmed the existence of this disorder, which they called Vici syndrome. Their finding of affected sibs of both sexes born to unaffected parents supported autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10405446" 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>Autosomal recessive inheritance was supported by the report of <a href="#2" class="mim-tip-reference" title="Chiyonobu, T., Yoshihara, T., Fukushima, Y., Yamamoto, Y., Tsunamoto, K., Nishimura, Y., Ishida, H., Toda, T., Kasubuchi, Y. &lt;strong&gt;Sister and brother with Vici syndrome: agenesis of the corpus callosum, albinism, and recurrent infections.&lt;/strong&gt; Am. J. Med. Genet. 109: 61-66, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11932994/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11932994&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.10298&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11932994">Chiyonobu et al. (2002)</a>, who described a sister and brother with agenesis of the corpus callosum, albinism, and recurrent infections. Both also had cataracts and cardiomyopathy and were born to healthy and unrelated parents. They showed postnatal growth retardation, profound developmental delay, and hypotonia. The sister had recurrent infections and died of progressive heart failure at age 19 months. The brother was alive at age 6 months with mild cardiomyopathy, and had a single episode of acute bronchitis at age 3 months. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11932994" 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="#9" class="mim-tip-reference" title="McClelland, V., Cullup, T., Bodi, I., Ruddy, D., Buj-Bello, A., Biancalana, V., Boehm, J., Bitoun, M., Miller, O., Jan, W., Menson, E., Amaya, L., Trounce, J., Laporte, J., Mohammed, S., Sewry, C., Raiman, J., Jungbluth, H. &lt;strong&gt;Vici syndrome associated with sensorineural hearing loss and evidence of neuromuscular involvement on muscle biopsy.&lt;/strong&gt; Am. J. Med. Genet. 152A: 741-747, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20186778/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;20186778&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.33296&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="20186778">McClelland et al. (2010)</a> reported an infant with Vici syndrome who presented at birth with hypotonia, feeble cry, and feeding difficulties. Examination showed microcephaly, hypertrophic cardiomyopathy, hypopigmentation, and dysmorphic facial features, such as broad nose, full lips, and long philtrum. He also had nystagmus, cataracts, profound sensorineural hearing loss, decreased lymphocytes, and recurrent infections. He died at age 3 months of cardiac failure. Brain MRI showed agenesis of the corpus callosum and septum pellucidum, and pontocerebellar hypoplasia. Skeletal muscle biopsy showed wide variation in fiber size, centralized nuclei, and small fibers with high glycogen content. Electron microscopy showed redundant basal lamina with small areas of debris between the layers, suggesting exocytosis. There were also several enlarged abnormal mitochondria with abnormal cristae. The case expanded the clinical features of Vici syndrome to include myopathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20186778" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Al-Owain, M., Al-Hashem, A., Al-Muhaizea, M., Humaidan, H., Al-Hindi, H., Al-Homoud, I., Al-Mogarri, I. &lt;strong&gt;Vici syndrome associated with unilateral lung hypoplasia and myopathy. (Letter)&lt;/strong&gt; Am. J. Med. Genet. 152A: 1849-1853, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20583151/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;20583151&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.33421&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="20583151">Al-Owain et al. (2010)</a> reported a male infant, born of distantly related Saudi parents, with Vici syndrome. At birth, he had poor sucking and feeding, with poor weight gain. Physical features included inverted triangular face, hypotonia with open mouth, mild ptosis, epicanthal folds, micrognathia, and high-arched palate. He also had axial hypotonia with mildly increased limb tone, bilateral cataracts, and optic neuropathy. Brain MRI showed agenesis of the corpus callosum, cerebellar and pontine hypoplasia, and delayed myelination. He had severe global developmental delay. He developed frequent recurrent infections, particularly with Pseudomonas and Klebsiella, associated with lymphopenia, although he had normal immunologic reactions to vaccination. Electrophysiologic studies showed severely reduced compound muscle action potentials and a myopathic pattern with pseudomyotonic discharges. Muscle biopsy showed marked variation in myofiber size, rare degenerative and regenerative fibers, internal nuclei, and vacuoles. Some small fibers were angular, suggesting a neurogenic component. The results of muscle studies were consistent with a myopathy due to a possible metabolic abnormality. Other features included left lung hypoplasia and left ventricular hypertrophy. The patient died of sepsis at age 9 months. The parents had 3 other children who died of a similar disorder, suggesting autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20583151" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Finocchi, A., Angelino, G., Cantarutti, N., Corbari, M., Bevivino, E., Cascioli, S., Randisi, F., Bertini, E., Dionisi-Vici, C. &lt;strong&gt;Immunodeficiency in Vici syndrome: a heterogeneous phenotype.&lt;/strong&gt; Am. J. Med. Genet. 158A: 434-439, 2012.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21965116/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;21965116&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.34244&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="21965116">Finocchi et al. (2012)</a> reported a 2-year-old Italian boy, born of unrelated patients, with Vici syndrome. He developed respiratory distress and sepsis of unknown origin on the second day of life. He had profound cervicoaxial hypotonia, nystagmus, sucking difficulties with frequent regurgitation, failure to thrive, pharyngomalacia, and hypopigmentation of the hair. Brain imaging showed agenesis of the corpus callosum. Muscle biopsy showed hypoplastic fibers with about 10% internal nuclei. Many fibers showed increased fucsinophilic material in addition to increased oxidative stain, and there were abnormally shaped and enlarged mitochondria with osmiophilic inclusions. Other features included cataracts, unilateral hearing loss, seizures, and progressive systolic cardiac dysfunction. He had recurrent infections, and immunologic workup showed progressive leukopenia. T cell mitogen response was normal, but he had a humoral defect with low immunoglobulins and defective antibody response. Treatment with intravenous immunoglobulin resulted in marked improvement of general clinical conditions and no infectious episodes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21965116" 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="#12" class="mim-tip-reference" title="Said, E., Soler, D., Sewry, C. &lt;strong&gt;Vici syndrome--a rapidly progressive neurodegenerative disorder with hypopigmentation, immunodeficiency and myopathic changes on muscle biopsy.&lt;/strong&gt; Am. J. Med. Genet. 158A: 440-444, 2012.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21964879/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;21964879&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.34273&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="21964879">Said et al. (2012)</a> reported a girl, born of unrelated Maltese parents, with Vici syndrome. Her neonatal period was uneventful and she was noted to have hypotonia, right-sided cataract, and fine, fair hair at age 6 weeks. By age 8 weeks, developmental delay was apparent. She did not smile, fix, or follow, and had head lag. She had poor growth, microcephaly, and dysmorphic features, including depressed nasal bridge, a high palate, micrognathia, and low-set ears with poorly developed ear lobes. She had truncal hypertonia and hypertonia in the lower limbs with general hyperreflexia. At 11 weeks of age, she showed sudden neurologic deterioration, developed recurrent infections, and had poor growth, necessitating hospitalization. She died of severe infection at age 15 months. Initial laboratory studies showed granulocytopenia, which corrected spontaneously, and a persisting low total lymphocyte and low T cell count; immunoglobulins were normal. Echocardiography showed an initial left ventricular hypertrophy in the first 3 months which resolved by 9 months of age, and liver enzymes were elevated until age 9 months. Brain imaging showed complete agenesis of the corpus callosum and a cyst in septum pellucidum. Electromyography at 3.5 months showed evidence of widespread denervation without clear involvement of peripheral nerves. Muscle biopsy showed abnormal variation in fiber size associated with clusters of small fibers and internal and central nuclei in atrophic fibers. <a href="#12" class="mim-tip-reference" title="Said, E., Soler, D., Sewry, C. &lt;strong&gt;Vici syndrome--a rapidly progressive neurodegenerative disorder with hypopigmentation, immunodeficiency and myopathic changes on muscle biopsy.&lt;/strong&gt; Am. J. Med. Genet. 158A: 440-444, 2012.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21964879/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;21964879&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.34273&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="21964879">Said et al. (2012)</a> concluded that the patient's disease course was consistent with neurologic deterioration together with muscular involvement and transient hepatic and cardiac dysfunction. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21964879" 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="Cullup, T., Kho, A. L., Dionisi-Vici, C., Brandmeier, B., Smith, F., Urry, Z., Simpson, M. A., Yau, S., Bertini, E., McClelland, V., Al-Owain, M., Koelker, S., and 25 others. &lt;strong&gt;Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.&lt;/strong&gt; Nature Genet. 45: 83-87, 2013.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/23222957/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;23222957&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=23222957[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng.2497&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="23222957">Cullup et al. (2013)</a> reported 18 affected children from 13 families with Vici syndrome. Nine of the patients had previously been reported. Clinical features were homogeneous, including agenesis of the corpus callosum, hypopigmentation, immunodeficiency, cardiomyopathy, and cataracts. Some patients had additional central nervous system abnormalities, such as cerebellar and pontine hypoplasia, paucity of white matter and ventricular dilatation, heterotopias, abnormalities of the septum pellucidum, and schizencephaly. Cardiomyopathy was dilated or hypertrophic. Other more variable features included coarse facial features in older children, retinal hypopigmentation, microcephaly, seizures, nystagmus, cleft palate, and failure to thrive. None achieved independent ambulation. The condition was severe, with only half of the patients still alive at the time of the study. The most common causes of death were progressive cardiac failure and recurrent infections. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23222957" 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="Ehmke, N., Parvaneh, N., Krawitz, P., Ashrafi, M.-R., Karimi, P., Mehdizadeh, M., Kruger, U., Hecht, J., Mundlos, S., Robinson, P. N. &lt;strong&gt;First description of a patient with Vici syndrome due to a mutation affecting the penultimate exon of EPG5 and review of the literature.&lt;/strong&gt; Am. J. Med. Genet. 164A: 3170-3175, 2014.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/25331754/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;25331754&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.36772&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="25331754">Ehmke et al. (2014)</a> reported a male infant, born of consanguineous Iranian parents, with Vici syndrome. The patient presented at age 2 months with hypotonia and poor feeding, and was noted to have hypopigmentation of the skin and hair compared to his parents. He had delayed development and spasticity. Dysmorphic features included microcephaly (-2 SD), depressed nasal bridge, micrognathia, and macular atrophy. Laboratory and radiographic investigations showed mild neutropenia, mild hypertrophic cardiomyopathy, complete agenesis of the corpus callosum, and cerebellar atrophy. He died of respiratory failure at age 3.5 months. <a href="#6" class="mim-tip-reference" title="Ehmke, N., Parvaneh, N., Krawitz, P., Ashrafi, M.-R., Karimi, P., Mehdizadeh, M., Kruger, U., Hecht, J., Mundlos, S., Robinson, P. N. &lt;strong&gt;First description of a patient with Vici syndrome due to a mutation affecting the penultimate exon of EPG5 and review of the literature.&lt;/strong&gt; Am. J. Med. Genet. 164A: 3170-3175, 2014.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/25331754/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;25331754&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.36772&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="25331754">Ehmke et al. (2014)</a> reviewed the clinical features of all 27 reported patients with VICIS, including their own. All had severely delayed psychomotor development, agenesis of the corpus callosum, and pigmentary abnormalities. Most had additional brain abnormalities, such as cerebellar hypoplasia, as well as immunodeficiency, cardiomyopathy, and growth abnormalities. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25331754" 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="Maillard, C., Cavallin, M., Piquand, K., Philbert, M., Bault, J. P., Millischer, A. E., Moshous, D., Rio, M., Gitiaux, C., Boddaert, N., Masson, C., Thomas, S., Bahi-Buisson, N. &lt;strong&gt;Prenatal and postnatal presentations of corpus callosum agenesis with polymicrogyria caused by EGP5 (sic) mutation.&lt;/strong&gt; Am. J. Med. Genet. 173A: 706-711, 2017.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/28168853/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;28168853&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.38061&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="28168853">Maillard et al. (2017)</a> reported a 2-year-old girl, born of unrelated parents, with Vici syndrome. Routine ultrasonography at 22 plus 6 weeks' gestation showed agenesis of the corpus callosum. MRI at 32 weeks' gestation showed ACC with abnormal gyration suggestive of polymicrogyria. She was born at term with normal weight and head circumference. She had severe developmental delay, failure to thrive, hypopigmentation, progressive microcephaly, neurologic symptoms including axial hypotonia with peripheral hypertonia, adducted thumbs, and opisthotonic posture. She had mild dysmorphic features including prominent epicanthic folds, anteverted nostrils, bitemporal narrowing, and fine fair hair. She had hypopigmented fundi but no cataract. Echocardiography and CPK were normal. She had recurrent aspiration pneumonia but normal hematologic investigations including T-cell subsets, T-cell proliferative responses, immunoglobulin levels, and antibody responses. Postnatal MRIs showed ACC, underoperculization of both Sylvian fissures, frontoparietal polymicrogyria, absent supratentorial myelination, and pontocerebellar atrophy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28168853" 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="#11" class="mim-tip-reference" title="Miyata, R., Hayashi, M., Sato, H., Sugawara, Y., Yui, T., Araki, S., Hasegawa, T., Doi, S., Kohyama, J. &lt;strong&gt;Sibling cases of Vici syndrome: sleep abnormalities and complications of renal tubular acidosis.&lt;/strong&gt; Am. J. Med. Genet. 143A: 189-194, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17163544/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;17163544&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.31584&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="17163544">Miyata et al. (2007)</a> reported 2 sibs with Vici syndrome. Both developed cardiomyopathy with elevated serum B-type natriuretic peptide (NPPB; <a href="/entry/600295">600295</a>) and partial response to beta-blockers. Both patients also developed renal tubular acidosis, a previously undocumented potential complication of the disorder. A sleep study including polysomnography indicated functional brainstem involvement. Although both patients had recurrent infections, neither had serologic evidence of immunodeficiency. <a href="#10" class="mim-tip-reference" title="Miyata, R., Hayashi, M., Itoh, E. &lt;strong&gt;Pathological changes in cardiac muscle and cerebellar cortex in Vici syndrome. (Letter)&lt;/strong&gt; Am. J. Med. Genet. 164A: 3203-3205, 2014.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/25258354/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;25258354&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.36753&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="25258354">Miyata et al. (2014)</a> reported the postmortem findings of one of these sibs, who died at 8 months of age. The heart showed dilation of the left ventricle with vacuole formation in the mammillary muscles of the endocardium and immunoreactivity for the autophagy marker p62 (SQSTM1; <a href="/entry/601530">601530</a>); the brain showed hypoplasia of the cerebellum and brainstem, and absence of the corpus callosum. Purkinje cells and granule cells were well-preserved, but there was axonal and dendritic swelling. <a href="#10" class="mim-tip-reference" title="Miyata, R., Hayashi, M., Itoh, E. &lt;strong&gt;Pathological changes in cardiac muscle and cerebellar cortex in Vici syndrome. (Letter)&lt;/strong&gt; Am. J. Med. Genet. 164A: 3203-3205, 2014.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/25258354/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;25258354&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.36753&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="25258354">Miyata et al. (2014)</a> noted that Vici syndrome is often described as a malformation syndrome, but it is also characterized by degenerative changes likely resulting from impaired autophagy. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=25258354+17163544" 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 transmission pattern of Vici syndrome is most consistent with autosomal recessive inheritance (<a href="#2" class="mim-tip-reference" title="Chiyonobu, T., Yoshihara, T., Fukushima, Y., Yamamoto, Y., Tsunamoto, K., Nishimura, Y., Ishida, H., Toda, T., Kasubuchi, Y. &lt;strong&gt;Sister and brother with Vici syndrome: agenesis of the corpus callosum, albinism, and recurrent infections.&lt;/strong&gt; Am. J. Med. Genet. 109: 61-66, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11932994/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11932994&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.10298&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11932994">Chiyonobu et al., 2002</a>; <a href="#1" class="mim-tip-reference" title="Al-Owain, M., Al-Hashem, A., Al-Muhaizea, M., Humaidan, H., Al-Hindi, H., Al-Homoud, I., Al-Mogarri, I. &lt;strong&gt;Vici syndrome associated with unilateral lung hypoplasia and myopathy. (Letter)&lt;/strong&gt; Am. J. Med. Genet. 152A: 1849-1853, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20583151/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;20583151&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.33421&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="20583151">Al-Owain et al., 2010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=20583151+11932994" 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 id="molecularGenetics" class="mim-anchor"></a>
<h4 href="#mimMolecularGeneticsFold" id="mimMolecularGeneticsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimMolecularGeneticsToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
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<strong>Molecular Genetics</strong>
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<p>In 16 patients from 13 unrelated families with Vici syndrome, <a href="#3" class="mim-tip-reference" title="Cullup, T., Kho, A. L., Dionisi-Vici, C., Brandmeier, B., Smith, F., Urry, Z., Simpson, M. A., Yau, S., Bertini, E., McClelland, V., Al-Owain, M., Koelker, S., and 25 others. &lt;strong&gt;Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.&lt;/strong&gt; Nature Genet. 45: 83-87, 2013.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/23222957/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;23222957&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=23222957[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng.2497&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="23222957">Cullup et al. (2013)</a> identified homozygous or compound heterozygous mutations in the EPG5 gene (see, e.g., <a href="/entry/615068#0001">615068.0001</a>-<a href="/entry/615068#0005">615068.0005</a>). Nine of the patients had previously been reported, including the 2 sibs originally reported by <a href="#5" class="mim-tip-reference" title="Dionisi Vici, C., Sabetta, G., Gambarara, M., Vigevano, F., Bertini, E., Boldrini, R., Parisi, S. G., Quinti, I., Aiuti, F., Fiorilli, M. &lt;strong&gt;Agenesis of the corpus callosum, combined immunodeficiency, bilateral cataract, and hypopigmentation in two brothers.&lt;/strong&gt; Am. J. Med. Genet. 29: 1-8, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3344762/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3344762&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320290102&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3344762">Dionisi Vici et al. (1988)</a>. All of the mutations were truncating or splice site mutations, except for 2 that were missense mutations. The first mutations were identified by exome sequencing of 4 patients from 3 families, and the rest of the mutations were identified by screening of the EPG5 gene in 12 additional families. Two families with the disorder did not have EPG5 mutation, suggesting genetic heterogeneity for the disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=23222957+3344762" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a male infant, born of consanguineous Iranian parents, with Vici syndrome, <a href="#6" class="mim-tip-reference" title="Ehmke, N., Parvaneh, N., Krawitz, P., Ashrafi, M.-R., Karimi, P., Mehdizadeh, M., Kruger, U., Hecht, J., Mundlos, S., Robinson, P. N. &lt;strong&gt;First description of a patient with Vici syndrome due to a mutation affecting the penultimate exon of EPG5 and review of the literature.&lt;/strong&gt; Am. J. Med. Genet. 164A: 3170-3175, 2014.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/25331754/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;25331754&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.36772&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="25331754">Ehmke et al. (2014)</a> identified a homozygous truncating mutation in the penultimate exon (exon 43) of the EPG5 gene (R2483X; <a href="/entry/615068#0006">615068.0006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25331754" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By whole-exome sequencing in a 2-year-old girl, born of unrelated parents, with Vici syndrome, <a href="#8" class="mim-tip-reference" title="Maillard, C., Cavallin, M., Piquand, K., Philbert, M., Bault, J. P., Millischer, A. E., Moshous, D., Rio, M., Gitiaux, C., Boddaert, N., Masson, C., Thomas, S., Bahi-Buisson, N. &lt;strong&gt;Prenatal and postnatal presentations of corpus callosum agenesis with polymicrogyria caused by EGP5 (sic) mutation.&lt;/strong&gt; Am. J. Med. Genet. 173A: 706-711, 2017.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/28168853/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;28168853&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.38061&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="28168853">Maillard et al. (2017)</a> identified compound heterozygosity for a missense (G1336E; <a href="/entry/615068#0007">615068.0007</a>) and a frameshift (<a href="/entry/615068#0008">615068.0008</a>) mutation in the EPG5 gene. Each parent carried one of the mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28168853" 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 id="pathogenesis" class="mim-anchor"></a>
<h4 href="#mimPathogenesisFold" id="mimPathogenesisToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimPathogenesisToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
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<strong>Pathogenesis</strong>
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<p>The identification of loss-of-function mutations in the EPG5 gene, which is involved in autophagy, suggested to <a href="#3" class="mim-tip-reference" title="Cullup, T., Kho, A. L., Dionisi-Vici, C., Brandmeier, B., Smith, F., Urry, Z., Simpson, M. A., Yau, S., Bertini, E., McClelland, V., Al-Owain, M., Koelker, S., and 25 others. &lt;strong&gt;Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.&lt;/strong&gt; Nature Genet. 45: 83-87, 2013.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/23222957/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;23222957&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=23222957[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng.2497&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="23222957">Cullup et al. (2013)</a> that Vici syndrome results from defective autophagy. Patient skeletal muscle tissue showed fiber-type disproportion with type 1 atrophy and numerous vacuole-like areas. Immunofluorescence studies of skeletal muscle from 2 patients showed upregulation of the sarcomere-associated autophagy proteins SQSTM1 and NBR1 (<a href="/entry/166945">166945</a>) with numerous puncta, indicating accumulation of autophagosomes in EPG5-deficient cells. Treatment of patient and control cells with autophagy inducers and inhibitors suggested that patient cells had a severe deficit in autophagosomal clearance and impaired fusion to lysosomes. The findings were consistent with histopathologic features of defective autophagy, including storage of abnormal material and secondary mitochondrial abnormalities in skeletal muscle, as well as multisystem defects in the heart, immune system, skin pigmentation, and central nervous system, implicating defective autophagy in various tissues. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23222957" 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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<strong>Animal Model</strong>
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<p><a href="#13" class="mim-tip-reference" title="Zhao, Y. G., Zhao, H., Sun, H., Zhang, H. &lt;strong&gt;Role of Epg5 in selective neurodegeneration and Vici syndrome.&lt;/strong&gt; Autophagy 9: 1258-1262, 2013.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/23674064/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;23674064&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.4161/auto.24856&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="23674064">Zhao et al. (2013)</a> found that Epg5-null mice developed progressive neurologic symptoms with hind limb paralysis around 4 months of age, resulting in death at 10 to 12 months. Autophagy flux was impaired, resulting in the accumulation of SQSTM1 aggregates in only certain neuronal populations in the central nervous system, including anterior horn cells of the spinal cord but not Purkinje cells in the cerebellum. Mutant mice also had severe muscle atrophy and muscle denervation, reminiscent of amyotrophic lateral sclerosis (ALS; <a href="/entry/105400">105400</a>). The mice showed only some features of Vici syndrome, including thin corpus callosum and muscle atrophy, but other core features, such as growth retardation, dysmorphic facial features, cataract, hypopigmentation, and immunodeficiency, were not present. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23674064" 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 id="references"class="mim-anchor"></a>
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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<strong>REFERENCES</strong>
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</h4>
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</div>
<div id="mimReferencesFold" class="collapse in mimTextToggleFold">
<ol>
<li>
<a id="1" class="mim-anchor"></a>
<a id="Al-Owain2010" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Al-Owain, M., Al-Hashem, A., Al-Muhaizea, M., Humaidan, H., Al-Hindi, H., Al-Homoud, I., Al-Mogarri, I.
<strong>Vici syndrome associated with unilateral lung hypoplasia and myopathy. (Letter)</strong>
Am. J. Med. Genet. 152A: 1849-1853, 2010.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20583151/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20583151</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20583151" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.a.33421" target="_blank">Full Text</a>]
</p>
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</li>
<li>
<a id="2" class="mim-anchor"></a>
<a id="Chiyonobu2002" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Chiyonobu, T., Yoshihara, T., Fukushima, Y., Yamamoto, Y., Tsunamoto, K., Nishimura, Y., Ishida, H., Toda, T., Kasubuchi, Y.
<strong>Sister and brother with Vici syndrome: agenesis of the corpus callosum, albinism, and recurrent infections.</strong>
Am. J. Med. Genet. 109: 61-66, 2002.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11932994/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11932994</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11932994" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.10298" target="_blank">Full Text</a>]
</p>
</div>
</li>
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<a id="3" class="mim-anchor"></a>
<a id="Cullup2013" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Cullup, T., Kho, A. L., Dionisi-Vici, C., Brandmeier, B., Smith, F., Urry, Z., Simpson, M. A., Yau, S., Bertini, E., McClelland, V., Al-Owain, M., Koelker, S., and 25 others.
<strong>Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.</strong>
Nature Genet. 45: 83-87, 2013.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23222957/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23222957</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23222957[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23222957" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/ng.2497" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="4" class="mim-anchor"></a>
<a id="del Campo1999" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
del Campo, M., Hall, B. D., Aeby, A., Nassogne, M.-C., Verloes, A., Roche, C., Gonzalez, C., Sanchez, H., Garcia-Alix, A., Cabanas, F., Escudero, R. M., Hernandez, R., Quero, J.
<strong>Albinism and agenesis of the corpus callosum with profound developmental delay: Vici syndrome, evidence for autosomal recessive inheritance.</strong>
Am. J. Med. Genet. 85: 479-485, 1999.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10405446/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10405446</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10405446" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/(sici)1096-8628(19990827)85:5&lt;479::aid-ajmg9&gt;3.3.co;2-4" target="_blank">Full Text</a>]
</p>
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</li>
<li>
<a id="5" class="mim-anchor"></a>
<a id="Dionisi Vici1988" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Dionisi Vici, C., Sabetta, G., Gambarara, M., Vigevano, F., Bertini, E., Boldrini, R., Parisi, S. G., Quinti, I., Aiuti, F., Fiorilli, M.
<strong>Agenesis of the corpus callosum, combined immunodeficiency, bilateral cataract, and hypopigmentation in two brothers.</strong>
Am. J. Med. Genet. 29: 1-8, 1988.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3344762/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3344762</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3344762" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.1320290102" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="6" class="mim-anchor"></a>
<a id="Ehmke2014" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Ehmke, N., Parvaneh, N., Krawitz, P., Ashrafi, M.-R., Karimi, P., Mehdizadeh, M., Kruger, U., Hecht, J., Mundlos, S., Robinson, P. N.
<strong>First description of a patient with Vici syndrome due to a mutation affecting the penultimate exon of EPG5 and review of the literature.</strong>
Am. J. Med. Genet. 164A: 3170-3175, 2014.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25331754/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25331754</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25331754" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.a.36772" target="_blank">Full Text</a>]
</p>
</div>
</li>
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<a id="7" class="mim-anchor"></a>
<a id="Finocchi2012" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Finocchi, A., Angelino, G., Cantarutti, N., Corbari, M., Bevivino, E., Cascioli, S., Randisi, F., Bertini, E., Dionisi-Vici, C.
<strong>Immunodeficiency in Vici syndrome: a heterogeneous phenotype.</strong>
Am. J. Med. Genet. 158A: 434-439, 2012.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21965116/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21965116</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21965116" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.a.34244" target="_blank">Full Text</a>]
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<a id="Maillard2017" class="mim-anchor"></a>
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<p class="mim-text-font">
Maillard, C., Cavallin, M., Piquand, K., Philbert, M., Bault, J. P., Millischer, A. E., Moshous, D., Rio, M., Gitiaux, C., Boddaert, N., Masson, C., Thomas, S., Bahi-Buisson, N.
<strong>Prenatal and postnatal presentations of corpus callosum agenesis with polymicrogyria caused by EGP5 (sic) mutation.</strong>
Am. J. Med. Genet. 173A: 706-711, 2017.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28168853/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28168853</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28168853" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.a.38061" target="_blank">Full Text</a>]
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<a id="9" class="mim-anchor"></a>
<a id="McClelland2010" class="mim-anchor"></a>
<div class="">
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McClelland, V., Cullup, T., Bodi, I., Ruddy, D., Buj-Bello, A., Biancalana, V., Boehm, J., Bitoun, M., Miller, O., Jan, W., Menson, E., Amaya, L., Trounce, J., Laporte, J., Mohammed, S., Sewry, C., Raiman, J., Jungbluth, H.
<strong>Vici syndrome associated with sensorineural hearing loss and evidence of neuromuscular involvement on muscle biopsy.</strong>
Am. J. Med. Genet. 152A: 741-747, 2010.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20186778/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20186778</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20186778" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.a.33296" target="_blank">Full Text</a>]
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<a id="Miyata2014" class="mim-anchor"></a>
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Miyata, R., Hayashi, M., Itoh, E.
<strong>Pathological changes in cardiac muscle and cerebellar cortex in Vici syndrome. (Letter)</strong>
Am. J. Med. Genet. 164A: 3203-3205, 2014.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25258354/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25258354</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25258354" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.a.36753" target="_blank">Full Text</a>]
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<a id="11" class="mim-anchor"></a>
<a id="Miyata2007" class="mim-anchor"></a>
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Miyata, R., Hayashi, M., Sato, H., Sugawara, Y., Yui, T., Araki, S., Hasegawa, T., Doi, S., Kohyama, J.
<strong>Sibling cases of Vici syndrome: sleep abnormalities and complications of renal tubular acidosis.</strong>
Am. J. Med. Genet. 143A: 189-194, 2007.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17163544/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17163544</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17163544" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.a.31584" target="_blank">Full Text</a>]
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<a id="12" class="mim-anchor"></a>
<a id="Said2012" class="mim-anchor"></a>
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<p class="mim-text-font">
Said, E., Soler, D., Sewry, C.
<strong>Vici syndrome--a rapidly progressive neurodegenerative disorder with hypopigmentation, immunodeficiency and myopathic changes on muscle biopsy.</strong>
Am. J. Med. Genet. 158A: 440-444, 2012.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21964879/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21964879</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21964879" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.a.34273" target="_blank">Full Text</a>]
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<a id="13" class="mim-anchor"></a>
<a id="Zhao2013" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Zhao, Y. G., Zhao, H., Sun, H., Zhang, H.
<strong>Role of Epg5 in selective neurodegeneration and Vici syndrome.</strong>
Autophagy 9: 1258-1262, 2013.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23674064/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23674064</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23674064" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.4161/auto.24856" target="_blank">Full Text</a>]
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Michael Muriello - updated : 06/02/2017
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Cassandra L. Kniffin - updated : 10/21/2015<br>Cassandra L. Kniffin - updated : 2/11/2013<br>Cassandra L. Kniffin - updated : 4/5/2012<br>Cassandra L. Kniffin - updated : 10/28/2010<br>Cassandra L. Kniffin - updated : 4/13/2007<br>Victor A. McKusick - updated : 4/29/2002<br>Sonja A. Rasmussen - updated : 9/30/1999
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Victor A. McKusick : 2/18/1988
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carol : 09/13/2024
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carol : 06/03/2017<br>carol : 06/02/2017<br>carol : 10/23/2015<br>ckniffin : 10/21/2015<br>carol : 2/14/2013<br>ckniffin : 2/11/2013<br>alopez : 4/12/2012<br>terry : 4/10/2012<br>ckniffin : 4/5/2012<br>wwang : 11/9/2010<br>ckniffin : 10/28/2010<br>mgross : 2/23/2009<br>wwang : 4/18/2007<br>ckniffin : 4/13/2007<br>mgross : 3/17/2004<br>cwells : 5/28/2002<br>cwells : 5/16/2002<br>terry : 4/29/2002<br>carol : 9/30/1999<br>mimadm : 2/19/1994<br>supermim : 3/16/1992<br>supermim : 3/20/1990<br>ddp : 10/26/1989<br>marie : 3/25/1988<br>root : 2/18/1988
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<h3>
<span class="mim-font">
<strong>#</strong> 242840
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VICI SYNDROME; VICIS
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<em>Alternative titles; symbols</em>
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IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM
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<strong>SNOMEDCT:</strong> 719824001; &nbsp;
<strong>ORPHA:</strong> 1493; &nbsp;
<strong>DO:</strong> 0060356; &nbsp;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<span class="mim-font">
18q12.3-q21.1
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Vici syndrome
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242840
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Autosomal recessive
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3
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EPG5
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615068
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because Vici syndrome (VICIS) is caused by homozygous or compound heterozygous mutation in the EPG5 gene (615068) on chromosome 18q.</p>
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<strong>Description</strong>
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<p>Vici syndrome (VICIS) is a rare congenital multisystem disorder characterized by agenesis of the corpus callosum (ACC), cataracts, pigmentary defects, progressive cardiomyopathy, and variable immunodeficiency. Affected individuals also have profound psychomotor retardation and hypotonia due to a myopathy (summary by Finocchi et al., 2012). </p>
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<strong>Clinical Features</strong>
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<p>Dionisi Vici et al. (1988) described 2 brothers with a malformation syndrome consisting of agenesis of the corpus callosum, cutaneous hypopigmentation, bilateral cataract, cleft lip and palate, and combined immunodeficiency. The sibs suffered from severe psychomotor retardation, seizures, recurrent severe respiratory infections, and chronic mucocutaneous candidiasis. They died of bronchopneumonia at ages 2 and 3 years. In the 1 sib studied, skin anergy to recall antigens, profound depletion of T4-positive lymphocytes, and deficiency of serum IgG2 were demonstrated. Autopsy showed agenesis of the corpus callosum, hypoplasia of the cerebellar vermis, and profound hypoplasia of the thymus and of the peripheral lymphoid tissue. No precisely similar cases were found. </p><p>Del Campo et al. (1999) reported 4 more cases (including 2 sibs, a male and a female) of this disorder. Their patients had agenesis of the corpus callosum, oculocutaneous albinism, repeated infections suggestive of an immunodeficiency, cardiomyopathy, postnatal growth retardation, microcephaly, and profound developmental delay. The authors suggested that these cases confirmed the existence of this disorder, which they called Vici syndrome. Their finding of affected sibs of both sexes born to unaffected parents supported autosomal recessive inheritance. </p><p>Autosomal recessive inheritance was supported by the report of Chiyonobu et al. (2002), who described a sister and brother with agenesis of the corpus callosum, albinism, and recurrent infections. Both also had cataracts and cardiomyopathy and were born to healthy and unrelated parents. They showed postnatal growth retardation, profound developmental delay, and hypotonia. The sister had recurrent infections and died of progressive heart failure at age 19 months. The brother was alive at age 6 months with mild cardiomyopathy, and had a single episode of acute bronchitis at age 3 months. </p><p>McClelland et al. (2010) reported an infant with Vici syndrome who presented at birth with hypotonia, feeble cry, and feeding difficulties. Examination showed microcephaly, hypertrophic cardiomyopathy, hypopigmentation, and dysmorphic facial features, such as broad nose, full lips, and long philtrum. He also had nystagmus, cataracts, profound sensorineural hearing loss, decreased lymphocytes, and recurrent infections. He died at age 3 months of cardiac failure. Brain MRI showed agenesis of the corpus callosum and septum pellucidum, and pontocerebellar hypoplasia. Skeletal muscle biopsy showed wide variation in fiber size, centralized nuclei, and small fibers with high glycogen content. Electron microscopy showed redundant basal lamina with small areas of debris between the layers, suggesting exocytosis. There were also several enlarged abnormal mitochondria with abnormal cristae. The case expanded the clinical features of Vici syndrome to include myopathy. </p><p>Al-Owain et al. (2010) reported a male infant, born of distantly related Saudi parents, with Vici syndrome. At birth, he had poor sucking and feeding, with poor weight gain. Physical features included inverted triangular face, hypotonia with open mouth, mild ptosis, epicanthal folds, micrognathia, and high-arched palate. He also had axial hypotonia with mildly increased limb tone, bilateral cataracts, and optic neuropathy. Brain MRI showed agenesis of the corpus callosum, cerebellar and pontine hypoplasia, and delayed myelination. He had severe global developmental delay. He developed frequent recurrent infections, particularly with Pseudomonas and Klebsiella, associated with lymphopenia, although he had normal immunologic reactions to vaccination. Electrophysiologic studies showed severely reduced compound muscle action potentials and a myopathic pattern with pseudomyotonic discharges. Muscle biopsy showed marked variation in myofiber size, rare degenerative and regenerative fibers, internal nuclei, and vacuoles. Some small fibers were angular, suggesting a neurogenic component. The results of muscle studies were consistent with a myopathy due to a possible metabolic abnormality. Other features included left lung hypoplasia and left ventricular hypertrophy. The patient died of sepsis at age 9 months. The parents had 3 other children who died of a similar disorder, suggesting autosomal recessive inheritance. </p><p>Finocchi et al. (2012) reported a 2-year-old Italian boy, born of unrelated patients, with Vici syndrome. He developed respiratory distress and sepsis of unknown origin on the second day of life. He had profound cervicoaxial hypotonia, nystagmus, sucking difficulties with frequent regurgitation, failure to thrive, pharyngomalacia, and hypopigmentation of the hair. Brain imaging showed agenesis of the corpus callosum. Muscle biopsy showed hypoplastic fibers with about 10% internal nuclei. Many fibers showed increased fucsinophilic material in addition to increased oxidative stain, and there were abnormally shaped and enlarged mitochondria with osmiophilic inclusions. Other features included cataracts, unilateral hearing loss, seizures, and progressive systolic cardiac dysfunction. He had recurrent infections, and immunologic workup showed progressive leukopenia. T cell mitogen response was normal, but he had a humoral defect with low immunoglobulins and defective antibody response. Treatment with intravenous immunoglobulin resulted in marked improvement of general clinical conditions and no infectious episodes. </p><p>Said et al. (2012) reported a girl, born of unrelated Maltese parents, with Vici syndrome. Her neonatal period was uneventful and she was noted to have hypotonia, right-sided cataract, and fine, fair hair at age 6 weeks. By age 8 weeks, developmental delay was apparent. She did not smile, fix, or follow, and had head lag. She had poor growth, microcephaly, and dysmorphic features, including depressed nasal bridge, a high palate, micrognathia, and low-set ears with poorly developed ear lobes. She had truncal hypertonia and hypertonia in the lower limbs with general hyperreflexia. At 11 weeks of age, she showed sudden neurologic deterioration, developed recurrent infections, and had poor growth, necessitating hospitalization. She died of severe infection at age 15 months. Initial laboratory studies showed granulocytopenia, which corrected spontaneously, and a persisting low total lymphocyte and low T cell count; immunoglobulins were normal. Echocardiography showed an initial left ventricular hypertrophy in the first 3 months which resolved by 9 months of age, and liver enzymes were elevated until age 9 months. Brain imaging showed complete agenesis of the corpus callosum and a cyst in septum pellucidum. Electromyography at 3.5 months showed evidence of widespread denervation without clear involvement of peripheral nerves. Muscle biopsy showed abnormal variation in fiber size associated with clusters of small fibers and internal and central nuclei in atrophic fibers. Said et al. (2012) concluded that the patient's disease course was consistent with neurologic deterioration together with muscular involvement and transient hepatic and cardiac dysfunction. </p><p>Cullup et al. (2013) reported 18 affected children from 13 families with Vici syndrome. Nine of the patients had previously been reported. Clinical features were homogeneous, including agenesis of the corpus callosum, hypopigmentation, immunodeficiency, cardiomyopathy, and cataracts. Some patients had additional central nervous system abnormalities, such as cerebellar and pontine hypoplasia, paucity of white matter and ventricular dilatation, heterotopias, abnormalities of the septum pellucidum, and schizencephaly. Cardiomyopathy was dilated or hypertrophic. Other more variable features included coarse facial features in older children, retinal hypopigmentation, microcephaly, seizures, nystagmus, cleft palate, and failure to thrive. None achieved independent ambulation. The condition was severe, with only half of the patients still alive at the time of the study. The most common causes of death were progressive cardiac failure and recurrent infections. </p><p>Ehmke et al. (2014) reported a male infant, born of consanguineous Iranian parents, with Vici syndrome. The patient presented at age 2 months with hypotonia and poor feeding, and was noted to have hypopigmentation of the skin and hair compared to his parents. He had delayed development and spasticity. Dysmorphic features included microcephaly (-2 SD), depressed nasal bridge, micrognathia, and macular atrophy. Laboratory and radiographic investigations showed mild neutropenia, mild hypertrophic cardiomyopathy, complete agenesis of the corpus callosum, and cerebellar atrophy. He died of respiratory failure at age 3.5 months. Ehmke et al. (2014) reviewed the clinical features of all 27 reported patients with VICIS, including their own. All had severely delayed psychomotor development, agenesis of the corpus callosum, and pigmentary abnormalities. Most had additional brain abnormalities, such as cerebellar hypoplasia, as well as immunodeficiency, cardiomyopathy, and growth abnormalities. </p><p>Maillard et al. (2017) reported a 2-year-old girl, born of unrelated parents, with Vici syndrome. Routine ultrasonography at 22 plus 6 weeks' gestation showed agenesis of the corpus callosum. MRI at 32 weeks' gestation showed ACC with abnormal gyration suggestive of polymicrogyria. She was born at term with normal weight and head circumference. She had severe developmental delay, failure to thrive, hypopigmentation, progressive microcephaly, neurologic symptoms including axial hypotonia with peripheral hypertonia, adducted thumbs, and opisthotonic posture. She had mild dysmorphic features including prominent epicanthic folds, anteverted nostrils, bitemporal narrowing, and fine fair hair. She had hypopigmented fundi but no cataract. Echocardiography and CPK were normal. She had recurrent aspiration pneumonia but normal hematologic investigations including T-cell subsets, T-cell proliferative responses, immunoglobulin levels, and antibody responses. Postnatal MRIs showed ACC, underoperculization of both Sylvian fissures, frontoparietal polymicrogyria, absent supratentorial myelination, and pontocerebellar atrophy. </p>
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<h4>
<span class="mim-font">
<strong>Other Features</strong>
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<p>Miyata et al. (2007) reported 2 sibs with Vici syndrome. Both developed cardiomyopathy with elevated serum B-type natriuretic peptide (NPPB; 600295) and partial response to beta-blockers. Both patients also developed renal tubular acidosis, a previously undocumented potential complication of the disorder. A sleep study including polysomnography indicated functional brainstem involvement. Although both patients had recurrent infections, neither had serologic evidence of immunodeficiency. Miyata et al. (2014) reported the postmortem findings of one of these sibs, who died at 8 months of age. The heart showed dilation of the left ventricle with vacuole formation in the mammillary muscles of the endocardium and immunoreactivity for the autophagy marker p62 (SQSTM1; 601530); the brain showed hypoplasia of the cerebellum and brainstem, and absence of the corpus callosum. Purkinje cells and granule cells were well-preserved, but there was axonal and dendritic swelling. Miyata et al. (2014) noted that Vici syndrome is often described as a malformation syndrome, but it is also characterized by degenerative changes likely resulting from impaired autophagy. </p>
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<span class="mim-font">
<strong>Inheritance</strong>
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<p>The transmission pattern of Vici syndrome is most consistent with autosomal recessive inheritance (Chiyonobu et al., 2002; Al-Owain et al., 2010). </p>
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<strong>Molecular Genetics</strong>
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<p>In 16 patients from 13 unrelated families with Vici syndrome, Cullup et al. (2013) identified homozygous or compound heterozygous mutations in the EPG5 gene (see, e.g., 615068.0001-615068.0005). Nine of the patients had previously been reported, including the 2 sibs originally reported by Dionisi Vici et al. (1988). All of the mutations were truncating or splice site mutations, except for 2 that were missense mutations. The first mutations were identified by exome sequencing of 4 patients from 3 families, and the rest of the mutations were identified by screening of the EPG5 gene in 12 additional families. Two families with the disorder did not have EPG5 mutation, suggesting genetic heterogeneity for the disorder. </p><p>In a male infant, born of consanguineous Iranian parents, with Vici syndrome, Ehmke et al. (2014) identified a homozygous truncating mutation in the penultimate exon (exon 43) of the EPG5 gene (R2483X; 615068.0006). </p><p>By whole-exome sequencing in a 2-year-old girl, born of unrelated parents, with Vici syndrome, Maillard et al. (2017) identified compound heterozygosity for a missense (G1336E; 615068.0007) and a frameshift (615068.0008) mutation in the EPG5 gene. Each parent carried one of the mutations. </p>
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<strong>Pathogenesis</strong>
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<span class="mim-text-font">
<p>The identification of loss-of-function mutations in the EPG5 gene, which is involved in autophagy, suggested to Cullup et al. (2013) that Vici syndrome results from defective autophagy. Patient skeletal muscle tissue showed fiber-type disproportion with type 1 atrophy and numerous vacuole-like areas. Immunofluorescence studies of skeletal muscle from 2 patients showed upregulation of the sarcomere-associated autophagy proteins SQSTM1 and NBR1 (166945) with numerous puncta, indicating accumulation of autophagosomes in EPG5-deficient cells. Treatment of patient and control cells with autophagy inducers and inhibitors suggested that patient cells had a severe deficit in autophagosomal clearance and impaired fusion to lysosomes. The findings were consistent with histopathologic features of defective autophagy, including storage of abnormal material and secondary mitochondrial abnormalities in skeletal muscle, as well as multisystem defects in the heart, immune system, skin pigmentation, and central nervous system, implicating defective autophagy in various tissues. </p>
</span>
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<h4>
<span class="mim-font">
<strong>Animal Model</strong>
</span>
</h4>
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<span class="mim-text-font">
<p>Zhao et al. (2013) found that Epg5-null mice developed progressive neurologic symptoms with hind limb paralysis around 4 months of age, resulting in death at 10 to 12 months. Autophagy flux was impaired, resulting in the accumulation of SQSTM1 aggregates in only certain neuronal populations in the central nervous system, including anterior horn cells of the spinal cord but not Purkinje cells in the cerebellum. Mutant mice also had severe muscle atrophy and muscle denervation, reminiscent of amyotrophic lateral sclerosis (ALS; 105400). The mice showed only some features of Vici syndrome, including thin corpus callosum and muscle atrophy, but other core features, such as growth retardation, dysmorphic facial features, cataract, hypopigmentation, and immunodeficiency, were not present. </p>
</span>
<div>
<br />
</div>
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<div>
<h4>
<span class="mim-font">
<strong>REFERENCES</strong>
</span>
</h4>
<div>
<p />
</div>
<div>
<ol>
<li>
<p class="mim-text-font">
Al-Owain, M., Al-Hashem, A., Al-Muhaizea, M., Humaidan, H., Al-Hindi, H., Al-Homoud, I., Al-Mogarri, I.
<strong>Vici syndrome associated with unilateral lung hypoplasia and myopathy. (Letter)</strong>
Am. J. Med. Genet. 152A: 1849-1853, 2010.
[PubMed: 20583151]
[Full Text: https://doi.org/10.1002/ajmg.a.33421]
</p>
</li>
<li>
<p class="mim-text-font">
Chiyonobu, T., Yoshihara, T., Fukushima, Y., Yamamoto, Y., Tsunamoto, K., Nishimura, Y., Ishida, H., Toda, T., Kasubuchi, Y.
<strong>Sister and brother with Vici syndrome: agenesis of the corpus callosum, albinism, and recurrent infections.</strong>
Am. J. Med. Genet. 109: 61-66, 2002.
[PubMed: 11932994]
[Full Text: https://doi.org/10.1002/ajmg.10298]
</p>
</li>
<li>
<p class="mim-text-font">
Cullup, T., Kho, A. L., Dionisi-Vici, C., Brandmeier, B., Smith, F., Urry, Z., Simpson, M. A., Yau, S., Bertini, E., McClelland, V., Al-Owain, M., Koelker, S., and 25 others.
<strong>Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.</strong>
Nature Genet. 45: 83-87, 2013.
[PubMed: 23222957]
[Full Text: https://doi.org/10.1038/ng.2497]
</p>
</li>
<li>
<p class="mim-text-font">
del Campo, M., Hall, B. D., Aeby, A., Nassogne, M.-C., Verloes, A., Roche, C., Gonzalez, C., Sanchez, H., Garcia-Alix, A., Cabanas, F., Escudero, R. M., Hernandez, R., Quero, J.
<strong>Albinism and agenesis of the corpus callosum with profound developmental delay: Vici syndrome, evidence for autosomal recessive inheritance.</strong>
Am. J. Med. Genet. 85: 479-485, 1999.
[PubMed: 10405446]
[Full Text: https://doi.org/10.1002/(sici)1096-8628(19990827)85:5&lt;479::aid-ajmg9&gt;3.3.co;2-4]
</p>
</li>
<li>
<p class="mim-text-font">
Dionisi Vici, C., Sabetta, G., Gambarara, M., Vigevano, F., Bertini, E., Boldrini, R., Parisi, S. G., Quinti, I., Aiuti, F., Fiorilli, M.
<strong>Agenesis of the corpus callosum, combined immunodeficiency, bilateral cataract, and hypopigmentation in two brothers.</strong>
Am. J. Med. Genet. 29: 1-8, 1988.
[PubMed: 3344762]
[Full Text: https://doi.org/10.1002/ajmg.1320290102]
</p>
</li>
<li>
<p class="mim-text-font">
Ehmke, N., Parvaneh, N., Krawitz, P., Ashrafi, M.-R., Karimi, P., Mehdizadeh, M., Kruger, U., Hecht, J., Mundlos, S., Robinson, P. N.
<strong>First description of a patient with Vici syndrome due to a mutation affecting the penultimate exon of EPG5 and review of the literature.</strong>
Am. J. Med. Genet. 164A: 3170-3175, 2014.
[PubMed: 25331754]
[Full Text: https://doi.org/10.1002/ajmg.a.36772]
</p>
</li>
<li>
<p class="mim-text-font">
Finocchi, A., Angelino, G., Cantarutti, N., Corbari, M., Bevivino, E., Cascioli, S., Randisi, F., Bertini, E., Dionisi-Vici, C.
<strong>Immunodeficiency in Vici syndrome: a heterogeneous phenotype.</strong>
Am. J. Med. Genet. 158A: 434-439, 2012.
[PubMed: 21965116]
[Full Text: https://doi.org/10.1002/ajmg.a.34244]
</p>
</li>
<li>
<p class="mim-text-font">
Maillard, C., Cavallin, M., Piquand, K., Philbert, M., Bault, J. P., Millischer, A. E., Moshous, D., Rio, M., Gitiaux, C., Boddaert, N., Masson, C., Thomas, S., Bahi-Buisson, N.
<strong>Prenatal and postnatal presentations of corpus callosum agenesis with polymicrogyria caused by EGP5 (sic) mutation.</strong>
Am. J. Med. Genet. 173A: 706-711, 2017.
[PubMed: 28168853]
[Full Text: https://doi.org/10.1002/ajmg.a.38061]
</p>
</li>
<li>
<p class="mim-text-font">
McClelland, V., Cullup, T., Bodi, I., Ruddy, D., Buj-Bello, A., Biancalana, V., Boehm, J., Bitoun, M., Miller, O., Jan, W., Menson, E., Amaya, L., Trounce, J., Laporte, J., Mohammed, S., Sewry, C., Raiman, J., Jungbluth, H.
<strong>Vici syndrome associated with sensorineural hearing loss and evidence of neuromuscular involvement on muscle biopsy.</strong>
Am. J. Med. Genet. 152A: 741-747, 2010.
[PubMed: 20186778]
[Full Text: https://doi.org/10.1002/ajmg.a.33296]
</p>
</li>
<li>
<p class="mim-text-font">
Miyata, R., Hayashi, M., Itoh, E.
<strong>Pathological changes in cardiac muscle and cerebellar cortex in Vici syndrome. (Letter)</strong>
Am. J. Med. Genet. 164A: 3203-3205, 2014.
[PubMed: 25258354]
[Full Text: https://doi.org/10.1002/ajmg.a.36753]
</p>
</li>
<li>
<p class="mim-text-font">
Miyata, R., Hayashi, M., Sato, H., Sugawara, Y., Yui, T., Araki, S., Hasegawa, T., Doi, S., Kohyama, J.
<strong>Sibling cases of Vici syndrome: sleep abnormalities and complications of renal tubular acidosis.</strong>
Am. J. Med. Genet. 143A: 189-194, 2007.
[PubMed: 17163544]
[Full Text: https://doi.org/10.1002/ajmg.a.31584]
</p>
</li>
<li>
<p class="mim-text-font">
Said, E., Soler, D., Sewry, C.
<strong>Vici syndrome--a rapidly progressive neurodegenerative disorder with hypopigmentation, immunodeficiency and myopathic changes on muscle biopsy.</strong>
Am. J. Med. Genet. 158A: 440-444, 2012.
[PubMed: 21964879]
[Full Text: https://doi.org/10.1002/ajmg.a.34273]
</p>
</li>
<li>
<p class="mim-text-font">
Zhao, Y. G., Zhao, H., Sun, H., Zhang, H.
<strong>Role of Epg5 in selective neurodegeneration and Vici syndrome.</strong>
Autophagy 9: 1258-1262, 2013.
[PubMed: 23674064]
[Full Text: https://doi.org/10.4161/auto.24856]
</p>
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Michael Muriello - updated : 06/02/2017<br>Cassandra L. Kniffin - updated : 10/21/2015<br>Cassandra L. Kniffin - updated : 2/11/2013<br>Cassandra L. Kniffin - updated : 4/5/2012<br>Cassandra L. Kniffin - updated : 10/28/2010<br>Cassandra L. Kniffin - updated : 4/13/2007<br>Victor A. McKusick - updated : 4/29/2002<br>Sonja A. Rasmussen - updated : 9/30/1999
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