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<title>
Entry
- #309800 - MICROPHTHALMIA, SYNDROMIC 1; MCOPS1
- OMIM
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<span class="h4">#309800</span>
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<strong>Table of Contents</strong>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/309800"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS309800"> <strong>Phenotypic Series</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="#nomenclature">Nomenclature</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-cell;">Clinical Resources</div>
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<div class="panel-body small mim-panel-body">
<div><a href="https://clinicaltrials.gov/search?cond=(MICROPHTHALMIA, SYNDROMIC) OR (NAA10)" class="mim-tip-hint" title="Clinical Trials" 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=281&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.diseaseinfosearch.org/x/4784" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=309800[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=568" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/a7b4113e-d1a6-440f-bfb1-237dfddd3eea/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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&nbsp;
<div style="display: table-cell;">Animal Models</div>
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<div><a href="https://www.alliancegenome.org/disease/DOID:0111799" 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/309800" 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://wormbase.org/resources/disease/DOID:0111799" 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>
</div>
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<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;
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</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> 438504004<br />
<strong>ORPHA:</strong> 568<br />
<strong>DO:</strong> 0111799<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>
309800
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
MICROPHTHALMIA, SYNDROMIC 1; MCOPS1
</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">
LENZ MICROPHTHALMIA SYNDROME<br />
LENZ DYSPLASIA<br />
MICROPHTHALMIA, SYNDROMIC 4, FORMERLY; MCOPS4, FORMERLY<br />
ANOP1, FORMERLY<br />
MAA, FORMERLY
</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/X/845?start=-3&limit=10&highlight=845">
Xq28
</a>
</span>
</td>
<td>
<span class="mim-font">
Microphthalmia, syndromic 1
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/309800"> 309800 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked">XL</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">
NAA10
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300013"> 300013 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
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<a href="/clinicalSynopsis/309800" 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')">
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<a href="/phenotypicSeries/PS309800" class="btn btn-info" role="button"> Phenotypic Series </a>
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&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>
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<ul class="dropdown-menu" style="width: 17em;">
<li><a href="/graph/linear/309800" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/309800" 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">
- X-linked <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263934009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263934009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241764&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241764</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001417" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001417</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001417" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001417</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">
- Growth retardation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/59576002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">59576002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/444896005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">444896005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151686&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151686</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001510</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001510</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> Ears </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Overfolded helices <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837731&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837731</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000396" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000396</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000396" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000396</a>]</span><br /> -
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 /> -
Recurrent otitis media <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0747085&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0747085</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000403" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000403</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000403" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000403</a>]</span><br /> -
Preauricular skin tags <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860816&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860816</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000384" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000384</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000384" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000384</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">
- Microphthalmia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204108000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204108000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/61142002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">61142002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q11.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q11.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/743.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.1</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/743.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.10</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/743.11" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.11</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026010&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026010</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000568" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000568</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000568" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000568</a>]</span><br /> -
Anophthalmia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/7183006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">7183006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q11.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q11.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/743.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.00</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/743.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0003119&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003119</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000528" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000528</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000528" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000528</a>]</span><br /> -
Microcornea <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/26098002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">26098002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q13.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q13.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266544&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266544</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000482" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000482</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000482" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000482</a>]</span><br /> -
Blepharoptosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/11934000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">11934000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H02.409" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H02.409</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H02.40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H02.40</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H02.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H02.4</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/374.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">374.3</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/374.30" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">374.30</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0005745&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0005745</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000508</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000508</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=76abf29563d4adc64d21da86221224b1" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Ptosis-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=76abf29563d4adc64d21da86221224b1&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 /> -
Ankyloblepharon <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253213006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253213006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/193953008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">193953008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H02.52" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H02.52</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0152233&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0152233</a>, <a href="https://bioportal.bioontology.org/search?q=C0339182&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0339182</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009755" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009755</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009755" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009755</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=7d6a237a122be37ced3cbfcb8aae3864" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Ankyloblepharon-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=7d6a237a122be37ced3cbfcb8aae3864&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 /> -
Blindness <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0456909&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0456909</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000618" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000618</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000618" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000618</a>]</span><br /> -
Colobomas of optic disk, choroid, ciliary body, and iris <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806800&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806800</a>]</span><br /> -
Underdeveloped bony orbits <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4315448&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4315448</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">
- High arched palate <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/27272007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">27272007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q38.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q38.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240635&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240635</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000218" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000218</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000218" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000218</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=c606b0119d4a894ebd5ee0242c136e29" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Palate,High-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=c606b0119d4a894ebd5ee0242c136e29&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 /> -
Cleft palate <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/63567004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">63567004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/87979003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">87979003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q35.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q35.5</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q35" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q35</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q35.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q35.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/749.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">749.00</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/749.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">749.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837218&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837218</a>, <a href="https://bioportal.bioontology.org/search?q=C2981150&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2981150</a>, <a href="https://bioportal.bioontology.org/search?q=C2240378&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2240378</a>, <a href="https://bioportal.bioontology.org/search?q=C0008925&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0008925</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000175" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000175</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000175" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000175</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Teeth </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Agenesis of upper lateral incisors <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806801&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806801</a>]</span><br /> -
Irregular lower incisors <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806802&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806802</a>]</span><br /> -
Crowded teeth <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/12351004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">12351004</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/524.31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">524.31</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0040433&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0040433</a>, <a href="https://bioportal.bioontology.org/search?q=C4724341&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4724341</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000678" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000678</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000678" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000678</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">
- Laryngotracheobronchomalacia (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806805&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806805</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Lung </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Pulmonary hypoplasia (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/80825009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">80825009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0265783&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0265783</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002089" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002089</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002089" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002089</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> CHEST </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> External Features </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Long cylindrical thorax <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806798&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806798</a>]</span><br /> -
Pectus excavatum <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/391987005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">391987005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/391982004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">391982004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q67.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q67.6</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/754.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">754.81</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0016842&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0016842</a>, <a href="https://bioportal.bioontology.org/search?q=C2051831&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2051831</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000767" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000767</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000767" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000767</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Ribs Sternum Clavicles & Scapulae </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Narrow shoulders <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249671009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249671009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0426790&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0426790</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000774" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000774</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000774" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000774</a>]</span><br /> -
Sloping shoulders <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856872&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856872</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0200021" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0200021</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0200021" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0200021</a>]</span><br /> -
Underdeveloped clavicle <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/93250003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">93250003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0426799&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0426799</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000894" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000894</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> ABDOMEN </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Gastrointestinal </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Pyloric stenosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/367403001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">367403001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/48644003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">48644003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q40.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q40.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/K31.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K31.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/750.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">750.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0034194&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0034194</a>, <a href="https://bioportal.bioontology.org/search?q=C0700639&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0700639</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002021" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002021</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002021" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002021</a>]</span><br /> -
Megacolon <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/33995003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">33995003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K59.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K59.3</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/K59.39" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K59.39</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0025160&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025160</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:6000852" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:6000852</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:6000852" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:6000852</a>]</span><br /> -
Rectal prolapse <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/57773001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">57773001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K62.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K62.3</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/569.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">569.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0034888&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0034888</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002035" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002035</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002035" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002035</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 <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>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/416010008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">416010008</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>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q54.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q54.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q54" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q54</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=C0848558&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0848558</a>, <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>, <a href="https://hpo.jax.org/app/browse/term/HP:0000047" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000047</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000047" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000047</a>]</span><br /> -
Small penis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/34911001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">34911001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/276333003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">276333003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q55.62" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q55.62</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/752.64" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">752.64</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240701&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240701</a>, <a href="https://bioportal.bioontology.org/search?q=C4551492&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551492</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030260" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030260</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0000054" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000054</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000054" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000054</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Internal Genitalia (Male) </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Cryptorchidism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204878001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204878001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q53.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q53.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/752.51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">752.51</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0010417&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0010417</a>, <a href="https://bioportal.bioontology.org/search?q=C5441920&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5441920</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000028" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000028</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000028" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000028</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 hypoplasia/aplasia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857453&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857453</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008678" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008678</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008678" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008678</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Ureters </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Hydroureter <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/69758005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">69758005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95576001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95576001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N28.82" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N28.82</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/N13.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N13.4</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/593.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">593.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0521620&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0521620</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000072" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000072</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000072" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000072</a>]</span><br /> -
Vesicoureteral reflux <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/197811007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">197811007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N13.70" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N13.70</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/N13.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N13.7</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/593.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">593.7</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0042580&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0042580</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000076" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000076</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000076" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000076</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> SKELETAL </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Spine </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Scoliosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/298382003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">298382003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/20944008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">20944008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/111266001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">111266001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M41.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q67.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q67.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0559260&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0559260</a>, <a href="https://bioportal.bioontology.org/search?q=C0036439&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036439</a>, <a href="https://bioportal.bioontology.org/search?q=C0700208&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0700208</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002650</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002650</a>]</span><br /> -
Exaggerated lumbar lordosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/313471000119104" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">313471000119104</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1184923&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1184923</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002938" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002938</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002938" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002938</a>]</span><br /> -
Spina bifida <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/67531005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">67531005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q05.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q05.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q05" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q05</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/741.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">741.9</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/741.90" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">741.90</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/741" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">741</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0158534&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0158534</a>, <a href="https://bioportal.bioontology.org/search?q=C0080178&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0080178</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002414" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002414</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002414" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002414</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Limbs </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Achilles tendon shortening <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/203076007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">203076007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0410264&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0410264</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001771" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001771</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Hands </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Double thumbs (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806803&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806803</a>]</span><br /> -
Syndactyly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/373413006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">373413006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q70.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q70.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q70" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q70</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/755.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">755.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2117411&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2117411</a>, <a href="https://bioportal.bioontology.org/search?q=C0039075&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0039075</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001159" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001159</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001159" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001159</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=bcc47de729f2f227ecf8427f5adf6d12" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Foot,Osseous_Syndactyly_of-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=bcc47de729f2f227ecf8427f5adf6d12&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 /> -
Clinodactyly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/17268007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">17268007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4551485&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551485</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030084" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030084</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030084" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030084</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=6c6553591f42fb5585fec835d3e3bab3" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Clinodactyly-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=6c6553591f42fb5585fec835d3e3bab3&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 /> -
Fetal pads of digits <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806804&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806804</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Feet </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Syndactyly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/373413006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">373413006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q70.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q70.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q70" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q70</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/755.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">755.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2117411&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2117411</a>, <a href="https://bioportal.bioontology.org/search?q=C0039075&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0039075</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001159" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001159</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001159" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001159</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=bcc47de729f2f227ecf8427f5adf6d12" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Foot,Osseous_Syndactyly_of-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=bcc47de729f2f227ecf8427f5adf6d12&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 /> -
Clinodactyly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/17268007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">17268007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4551485&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551485</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030084" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030084</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030084" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030084</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=6c6553591f42fb5585fec835d3e3bab3" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Clinodactyly-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=6c6553591f42fb5585fec835d3e3bab3&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 /> -
Fetal pads of digits <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806804&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806804</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">
- Fetal pads of digits <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806804&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806804</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> NEUROLOGIC </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Central Nervous System </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Mental retardation (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/228156007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">228156007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/110359009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">110359009</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/317-319.99" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">317-319.99</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3714756&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3714756</a>, <a href="https://bioportal.bioontology.org/search?q=C0025362&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025362</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span><br /> -
Delayed motor development <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854301&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854301</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001270" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001270</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001270" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001270</a>]</span><br /> -
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 /> -
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 /> -
Spina bifida <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/67531005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">67531005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q05.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q05.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q05" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q05</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/741.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">741.9</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/741.90" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">741.90</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/741" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">741</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0158534&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0158534</a>, <a href="https://bioportal.bioontology.org/search?q=C0080178&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0080178</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002414" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002414</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002414" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002414</a>]</span><br /> -
Neural tube defect <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253098009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253098009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0027794&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0027794</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0045005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0045005</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0045005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0045005</a>]</span><br /> -
Hydrocephalus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/230745008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">230745008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G91" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G91</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/G91.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G91.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020255&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020255</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000238" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000238</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000238" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000238</a>]</span><br /> -
Ventriculomegaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/413808003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">413808003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1531647&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1531647</a>, <a href="https://bioportal.bioontology.org/search?q=C3278923&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3278923</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002119" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002119</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002119" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002119</a>]</span><br /> -
Chiari type II malformation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/373587001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">373587001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q07.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q07.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0555206&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0555206</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0025660" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0025660</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0025660" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0025660</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Behavioral Psychiatric Manifestations </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Aggressiveness <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/61372001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">61372001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0001807&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0001807</a>, <a href="https://bioportal.bioontology.org/search?q=C1457883&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1457883</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006919" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006919</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0000718" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000718</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000718" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000718</a>]</span><br /> -
Self-mutilation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/130968006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">130968006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2242914&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2242914</a>, <a href="https://bioportal.bioontology.org/search?q=C0036601&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036601</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000742" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000742</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000742" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000742</a>]</span><br /> -
Autistic behavior (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0856975&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0856975</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000729" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000729</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000729" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000729</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MISCELLANEOUS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Mild expression in heterozygous carriers<br /> -
Multiple spontaneous abortions in obligate carriers<br /> -
Inter- and intrafamilial clinical variability<br /> -
Variable expressivity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861403&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861403</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003828" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003828</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003828" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003828</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MOLECULAR BASIS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Caused by mutation in the NatA catalytic subunit of N-alpha-acetyltransferase-10 gene (NAA10, <a href="/entry/300013#0002">300013.0002</a>)<br />
</span>
</div>
</div>
</div>
<div class="text-right">
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
</div>
</div>
</div>
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small">
<div class="row">
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
<h5>
Microphthalmia, syndromic
- <a href="/phenotypicSeries/PS309800">PS309800</a>
- 18 Entries
</h5>
</div>
</div>
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
<table class="table table-bordered table-condensed table-hover mim-table-padding">
<thead>
<tr>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Location</strong>
</th>
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
<strong>Phenotype</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Inheritance</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />mapping key</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />MIM number</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus<br />MIM number</strong>
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/124?start=-3&limit=10&highlight=124"> 3p24.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615524"> Microphthalmia, syndromic 12 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <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">
<a href="/entry/615524"> 615524 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/180220"> RARB </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/180220"> 180220 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/890?start=-3&limit=10&highlight=890"> 3q26.33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/206900"> Optic nerve hypoplasia and abnormalities of the central nervous system </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</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">
<a href="/entry/206900"> 206900 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/184429"> SOX2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/184429"> 184429 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/890?start=-3&limit=10&highlight=890"> 3q26.33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/206900"> Microphthalmia, syndromic 3 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</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">
<a href="/entry/206900"> 206900 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/184429"> SOX2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/184429"> 184429 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/4/603?start=-3&limit=10&highlight=603"> 4q31.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615877"> Microphthalmia/coloboma and skeletal dysplasia syndrome </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <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">
<a href="/entry/615877"> 615877 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604357"> MAB21L2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604357"> 604357 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/4/695?start=-3&limit=10&highlight=695"> 4q34.3-q35.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615145"> ?Microphthalmia/coloboma 9 </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">
<a href="/entry/615145"> 615145 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610083"> TENM3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610083"> 610083 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/4/695?start=-3&limit=10&highlight=695"> 4q34.3-q35.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615145"> Microphthalmia, syndromic 15 </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">
<a href="/entry/615145"> 615145 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610083"> TENM3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610083"> 610083 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/740?start=-3&limit=10&highlight=740"> 6q21 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601349"> Microphthalmia, syndromic 8 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="?Autosomal dominant">?AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601349"> 601349 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601349"> MCOPS8 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601349"> 601349 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/592?start=-3&limit=10&highlight=592"> 10q25.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614402"> ?Microphthalmia, syndromic 11 </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">
<a href="/entry/614402"> 614402 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604294"> VAX1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604294"> 604294 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/246?start=-3&limit=10&highlight=246"> 14q22.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607932"> Microphthalmia, syndromic 6 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</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">
<a href="/entry/607932"> 607932 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/112262"> BMP4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/112262"> 112262 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/266?start=-3&limit=10&highlight=266"> 14q22.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610125"> Microphthalmia, syndromic 5 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</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">
<a href="/entry/610125"> 610125 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600037"> OTX2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600037"> 600037 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/266?start=-3&limit=10&highlight=266"> 14q22.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610125"> Retinal dystrophy, early-onset, with or without pituitary dysfunction </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</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">
<a href="/entry/610125"> 610125 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600037"> OTX2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600037"> 600037 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/15/375?start=-3&limit=10&highlight=375"> 15q24.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601186"> Microphthalmia, isolated, with coloboma 8 </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">
<a href="/entry/601186"> 601186 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610745"> STRA6 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610745"> 610745 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/15/375?start=-3&limit=10&highlight=375"> 15q24.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601186"> Microphthalmia, syndromic 9 </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">
<a href="/entry/601186"> 601186 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610745"> STRA6 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610745"> 610745 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/55?start=-3&limit=10&highlight=55"> Xp22.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/309801"> Linear skin defects with multiple congenital anomalies 1 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked dominant">XLD</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">
<a href="/entry/309801"> 309801 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300056"> HCCS </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300056"> 300056 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/172?start=-3&limit=10&highlight=172"> Xp11.4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300166"> Microphthalmia, syndromic 2 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked dominant">XLD</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">
<a href="/entry/300166"> 300166 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300485"> BCOR </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300485"> 300485 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/795?start=-3&limit=10&highlight=795"> Xq28 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300915"> ?Microphthalmia, syndromic 13 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked">XL</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">
<a href="/entry/300915"> 300915 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300193"> HMGB3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300193"> 300193 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/845?start=-3&limit=10&highlight=845"> Xq28 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/309800"> Microphthalmia, syndromic 1 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked">XL</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">
<a href="/entry/309800"> 309800 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300013"> NAA10 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300013"> 300013 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
Not Mapped
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611222"> Microphthalmia, syndromic 10 </a>
</span>
</td>
<td>
<span class="mim-font">
</span>
</td>
<td>
<span class="mim-font">
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611222"> 611222 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611222"> MCOPS10 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611222"> 611222 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
<div class="text-right small">
<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
</div>
</div>
</div>
</div>
<div>
<br />
</div>
<div>
<a id="text" class="mim-anchor"></a>
<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon &lt;span class='glyphicon glyphicon-plus-sign'&gt;&lt;/span&gt at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
<strong>TEXT</strong>
</span>
</span>
</h4>
<div id="mimTextFold" class="collapse in ">
<span class="mim-text-font">
<p>A number sign (#) is used with this entry because of evidence that syndromic microphthalmia-1 (MCOPS1) is caused by mutation in the NAA10 gene (<a href="/entry/300013">300013</a>) on chromosome Xq28.</p>
</span>
<div>
<br />
</div>
</div>
<div>
<a id="description" class="mim-anchor"></a>
<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Description</strong>
</span>
</h4>
</div>
<div id="mimDescriptionFold" class="collapse in ">
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<p>Syndromic microphthalmia-1 (MCOPS1) is an X-linked disorder characterized by unilateral or bilateral microphthalmia or anophthalmia. The most common extraocular features are impaired intellectual development, large and dysplastic ears with skin tags, high-arched or cleft palate, dental anomalies, urogenital anomalies, and skeletal manifestations including lordosis or scoliosis, clinodactyly, syndactyly, brachydactyly, and abnormal thumbs. There is considerable variation in severity among reported families (<a href="#17" class="mim-tip-reference" title="Slavotinek, A., Lee, S. S., Hamilton, S. P. &lt;strong&gt;A family with X-linked anophthalmia: exclusion of SOX3 as a candidate gene.&lt;/strong&gt; Am. J. Med. Genet. 138A: 89-94, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16114045/&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;16114045&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.30872&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="16114045">Slavotinek et al., 2005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16114045" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Genetic Heterogeneity</em></strong></p><p>
Other forms of syndromic microphthalmia include MCOPS2 (<a href="/entry/300166">300166</a>), caused by the BCOR gene (<a href="/entry/300485">300485</a>) on chromosome Xp11; MCOPS3 (<a href="/entry/206900">206900</a>), caused by mutation in the SOX2 gene (<a href="/entry/184429">184429</a>) on chromosome 3q26; MCOPS5 (<a href="/entry/610125">610125</a>), caused by mutation in the OTX2 gene (<a href="/entry/600037">600037</a>) on chromosome 14q22; MCOPS6 (<a href="/entry/607932">607932</a>), caused by mutation in the BMP4 gene (<a href="/entry/112262">112262</a>) on chromosome 14q22; MCOPS7 (<a href="/entry/309801">309801</a>), caused by mutation in the HCCS gene (<a href="/entry/300056">300056</a>) on chromosome Xp22; MCOPS9 (<a href="/entry/601186">601186</a>), caused by mutation in the STRA6 gene (<a href="/entry/610745">610745</a>) on chromosome 15q24; MCOPS11 (<a href="/entry/614402">614402</a>), caused by mutation in the VAX1 gene (<a href="/entry/604294">604294</a>) on chromosome 10q25; MCOPS12 (<a href="/entry/615524">615524</a>), caused by mutation in the RARB gene (<a href="/entry/180220">180220</a>) on chromosome 3p24; MCOPS13 (<a href="/entry/300915">300915</a>), caused by mutation in the HMGB3 gene (<a href="/entry/300193">300193</a>) on chromosome Xq28; MCOPS14 (<a href="/entry/615877">615877</a>), caused by mutation in the MAB21L2 gene (<a href="/entry/604357">604357</a>) on chromosome 4q31; MCOPS15 (<a href="/entry/615145">615145</a>), caused by mutation in the TENM3 gene (<a href="/entry/610083">610083</a>) on chromosome 4q; and MCOPS16 (<a href="/entry/611038">611038</a>), caused by mutation in the RAX gene (<a href="/entry/601881">601881</a>) on chromosome 18q21.</p><p>A form of syndromic microphthalmia also maps to chromosome 6q21 (MCOPS8; <a href="/entry/601349">601349</a>). A form of microphthalmia associated with progressive brain atrophy has been reported (MCOPS10; <a href="/entry/611222">611222</a>).</p><p>A form of syndromic microphthalmia, formerly designated MCOPS4, has been found to be the same entity as MCOPS1.</p><p><a href="#19" class="mim-tip-reference" title="Williamson, K. A., FitzPatrick, D. R. &lt;strong&gt;The genetic architecture of microphthalmia, anophthalmia and coloboma.&lt;/strong&gt; Europ. J. Med. Genet. 57: 369-380, 2014.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/24859618/&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;24859618&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ejmg.2014.05.002&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="24859618">Williamson and FitzPatrick (2014)</a> reviewed genes associated with microphthalmia, anophthalmia, and/or coloboma phenotypes. They noted that when exon sequencing is combined with detection of gene deletions via aCGH and high-resolution analysis of intragenic microdeletions and microduplications, approximately 75% of cases of bilateral anophthalmia or severe microphthalmia are found to carry heterozygous mutations in the SOX2 (<a href="/entry/184429">184429</a>) or OTX2 (<a href="/entry/600037">600037</a>) genes, or biallelic mutations in the STRA6 gene (<a href="/entry/610745">610745</a>) (see also MCOPS5, <a href="/entry/610125">610125</a> and MCOPS9, <a href="/entry/601186">601186</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24859618" 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 term 'anophthalmia' has been misused in the medical literature. True or primary anophthalmia is rarely compatible with life; in such cases, the primary optic vesicle has stopped developing and the abnormal development involves major defects in the brain as well (<a href="#6" class="mim-tip-reference" title="Francois, J. &lt;strong&gt;Heredity in Ophthalmology.&lt;/strong&gt; St. Louis: C. V. Mosby (pub.) 1961. P. 173."None>Francois, 1961</a>). The diagnosis can only be made histologically (<a href="#16" class="mim-tip-reference" title="Reddy, M. A., Francis, P. J., Berry, V., Bradshaw, K., Patel, R. J., Maher, E. R., Kumar, R., Bhattacharya, S. S., Moore, A. T. &lt;strong&gt;A clinical and molecular genetic study of a rare dominantly inherited syndrome (MRCS) comprising of (sic) microcornea, rod-cone dystrophy, cataract, and posterior staphyloma.&lt;/strong&gt; Brit. J. Ophthal. 87: 197-202, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12543751/&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;12543751&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=12543751[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/10.1136/bjo.87.2.197&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="12543751">Reddy et al., 2003</a>; <a href="#13" class="mim-tip-reference" title="Morini, F., Pacilli, M., Spitz, L. &lt;strong&gt;Bilateral anophthalmia and esophageal atresia: report of a new patient and review of the literature. (Letter)&lt;/strong&gt; Am. J. Med. Genet. 132A: 60-62, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15389708/&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;15389708&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.30283&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="15389708">Morini et al., 2005</a>; <a href="#18" class="mim-tip-reference" title="Smartt, J. M., Jr., Kherani, F., Saddiqi, F., Katowitz, J. A., Bartlett, S. P. &lt;strong&gt;Microphthalmia and synostotic frontal plagiocephaly: a rare clinical entity with implications for craniofacial reconstruction.&lt;/strong&gt; Plast. Reconstr. Surg. 116: 1e-9e, 2005. Note: Electronic Article.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15988238/&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;15988238&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1097/01.prs.0000169706.29344.e4&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="15988238">Smartt et al., 2005</a>), but this is rarely done. In most published cases, the term 'anophthalmia' is used as a synonym for the more appropriate terms 'extreme microphthalmia' or 'clinical anophthalmia.' <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15988238+15389708+12543751" 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 eye anomaly was unilateral in some of the affected persons in the remarkable pedigree described by <a href="#12" class="mim-tip-reference" title="Lenz, W. &lt;strong&gt;Recessiv-geschlechtsgebundene Mikrophthalmie mit multiplen Missbildungen.&lt;/strong&gt; Z. Kinderheilk. 77: 384-390, 1955.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/13300470/&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;13300470&lt;/a&gt;]" pmid="13300470">Lenz (1955)</a>. Narrow shoulders, double thumbs, other skeletal anomalies, and dental, urogenital and cardiovascular malformations were observed. The mother of the proband, a 13-year-old boy born blind, had a deformity of the fifth finger, suggesting mild expression. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13300470" 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="Herrmann, J., Opitz, J. M. &lt;strong&gt;The Lenz microphthalmia syndrome.&lt;/strong&gt; Birth Defects Orig. Art. Ser. V(2): 138-143, 1969."None>Herrmann and Opitz (1969)</a> described an affected 11-year-old boy. Features were physical and mental retardation, hypospadias and bilateral cryptorchidism, renal dysgenesis and hydroureters, left microphthalmos, agenesis of upper lateral incisors and irregular lower incisors, long cylindrical thorax with sloping shoulders and exaggerated lumbar lordosis, and cutaneous clubbing of the right third and fourth toes. The mother was short and had a small head circumference.</p><p>In 6 males in 4 sibships connected through females, <a href="#3" class="mim-tip-reference" title="Dinno, N. D., Lawwill, T., Leggett, A. E., Shearer, L., Weisskopf, B. &lt;strong&gt;Bilateral microcornea, coloboma, short stature and other skeletal anomalies--a new hereditary syndrome.&lt;/strong&gt; Birth Defects Orig. Art. Ser. XII(6): 109-114, 1976."None>Dinno et al. (1976)</a> described moderate microphthalmos, microcornea, and large bilateral colobomas of the optic disc, choroid, ciliary body, and iris. The shoulders were sloping, with underdeveloped clavicles. Height was about 168 cm. The patients had normal intelligence. None had children.</p><p>In 2 generations of a family from Northern Ireland, <a href="#8" class="mim-tip-reference" title="Graham, C. A., Redmond, R. M., Nevin, N. C. &lt;strong&gt;X-linked clinical anophthalmos: localization of the gene to Xq27-Xq28.&lt;/strong&gt; Ophthalmic Paediat. Genet. 12: 43-48, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1679229/&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;1679229&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.3109/13816819109023084&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="1679229">Graham et al. (1991)</a> described 7 males with clinical anophthalmia, 3 of whom were deceased at the time of study. Clinically affected males with bilateral disease had fusion of the eyelid margins (ankyloblepharon) and radiologically demonstrable underdevelopment of the bony orbits. All males had mental retardation (IQ less than 50) and 1 male was born with preauricular skin tags and a cleft soft palate. No deafness was present, and the lack of limb, hand, dental, and urogenital abnormalities appeared to exclude the diagnosis of Lenz microphthalmia syndrome. This family had originally been reported by <a href="#7" class="mim-tip-reference" title="Graham, C. A., McCleary, B. G., Malcolm, S., Kelly, E. D., Hill, A. J., Johnston, W. P., Nevin, N. C. &lt;strong&gt;Linkage analysis in a family with X-linked anophthalmos. (Abstract)&lt;/strong&gt; J. Med. Genet. 25: 643 only, 1988."None>Graham et al. (1988)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1679229" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#15" class="mim-tip-reference" title="Ozkinay, F. F., Ozkinay, C., Yuksel, H., Yenigun, A., Sapmaz, G., Aksu, O. &lt;strong&gt;A case of Lenz microphthalmia syndrome.&lt;/strong&gt; J. Med. Genet. 34: 604-606, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9222975/&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;9222975&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.34.7.604&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="9222975">Ozkinay et al. (1997)</a> reported a 15-year-old affected male who, in addition to features suggestive of Lenz microphthalmia, had dysgenesis of the corpus callosum and dilatation of the lateral cerebral ventricles. <a href="#15" class="mim-tip-reference" title="Ozkinay, F. F., Ozkinay, C., Yuksel, H., Yenigun, A., Sapmaz, G., Aksu, O. &lt;strong&gt;A case of Lenz microphthalmia syndrome.&lt;/strong&gt; J. Med. Genet. 34: 604-606, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9222975/&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;9222975&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.34.7.604&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="9222975">Ozkinay et al. (1997)</a> pointed out similarities common to this condition, Goltz syndrome (<a href="/entry/305600">305600</a>), and Aicardi syndrome (<a href="/entry/304050">304050</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9222975" 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="#10" class="mim-tip-reference" title="Hornby, S. J., Adolph, S., Gilbert, C. E., Dandona, L., Foster, A. &lt;strong&gt;Visual acuity in children with coloboma: clinical features and a new phenotype classification system.&lt;/strong&gt; Ophthalmology 107: 511-520, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10711890/&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;10711890&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0161-6420(99)00140-2&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="10711890">Hornby et al. (2000)</a> correlated visual function with clinical features and biometric findings in the eyes of children with coloboma. Of the 196 eyes with colobomatous malformations, 11 had microphthalmos with cyst (<a href="/entry/251505">251505</a>), and 185 eyes had coloboma (associated with microcornea in 155 eyes and with normal corneal diameter in 30 eyes). The visual prognosis depended on the phenotype of the more normal eye. Microphthalmos with cyst had the worst prognosis (all worse than 20/400). Microcornea with microphthalmos had a worse prognosis than microcornea without microphthalmos. For microcornea with microphthalmos, 67% saw worse than 20/400. Of the children with microcornea without microphthalmos, 76% saw better than 20/400. Simple coloboma (without microcornea or microphthalmos) had the best visual prognosis: only 7% saw 20/400 or worse. A corneal diameter of less than 6 mm had a poor visual prognosis, whereas a corneal diameter of more than 10 mm had a good prognosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10711890" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Forrester, S., Kovach, M. J., Reynolds, N. M., Urban, R., Kimonis, V. &lt;strong&gt;Manifestations in four males with and an obligate carrier of the Lenz microphthalmia syndrome.&lt;/strong&gt; Am. J. Med. Genet. 98: 92-100, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11426460/&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;11426460&lt;/a&gt;]" pmid="11426460">Forrester et al. (2001)</a> reported 3 brothers (aged 15 years, 9 years, and 18 months) and a maternal uncle (aged 27 years) with congenital clinical anophthalmia, delayed motor development, hypotonia, and moderate to severe mental retardation. They also had abnormally modeled ears, high-arched palate, pectus excavatum, finger and toe syndactyly, clinodactyly, fetal pads of the digits, scoliosis, and cardiac and renal abnormalities. An obligate carrier had abnormally modeled ears and syndactyly of toes 2 and 3 bilaterally. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11426460" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#17" class="mim-tip-reference" title="Slavotinek, A., Lee, S. S., Hamilton, S. P. &lt;strong&gt;A family with X-linked anophthalmia: exclusion of SOX3 as a candidate gene.&lt;/strong&gt; Am. J. Med. Genet. 138A: 89-94, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16114045/&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;16114045&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.30872&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="16114045">Slavotinek et al. (2005)</a> reported a 4-generation family in which 4 males had anophthalmia. Only 1 patient (III-5) was available for examination. His medical history included unilateral right anophthalmia, colorblindness, and bilateral hearing loss that had developed in adulthood following frequent ear infections. Examination at age 50 years showed prominent supraorbital ridges with a right-sided ocular prosthesis, minimal development of the right upper and lower eyelids, small right orbit, and right epicanthal fold. The left eye was normal. Skeletal findings included mild fifth-finger clinodactyly bilaterally, pes planus, and bilateral partial syndactyly between the second and third toes, but no scoliosis. His sister had a male infant who was stillborn and had microphthalmia and a horseshoe-shaped kidney. The proband also had an affected male cousin (III-3) who was reported to have right anophthalmia, colorblindness, and deafness in the left ear following an ear infection at age 41 years. The cousin's mother (II-2) was examined and had valgus deviation of the right thumb and pes planus, which the authors attributed to likely carrier status. Both cousins had normal intelligence and had completed university educations. Their maternal grandfather was reported to have had colorblindness, 6 toes, and pes planus, but no known microphthalmia or anophthalmia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16114045" 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="#11" class="mim-tip-reference" title="Johnston, J. J., Williamson, K. A., Chou, C. M., Sapp, J. C., Ansari, M., Chapman, H. M., Cooper, D. N., Dabib, T., Dudley, J. N., Holt, R. J., Ragge, N. K., Schaffer, A. A., Sen, S. K., Slavotinek, A. M., FitzPatrick, D. R., Glaser, T. M., Stewart, F., Black, G. C. M., Biesecker, L. G. &lt;strong&gt;NAA10 polyadenylation signal variants cause syndromic microphthalmia.&lt;/strong&gt; J. Med. Genet. 56: 444-453, 2019.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/30842225/&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;30842225&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmedgenet-2018-105836&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="30842225">Johnston et al. (2019)</a> restudied the family (family 1) originally reported by <a href="#8" class="mim-tip-reference" title="Graham, C. A., Redmond, R. M., Nevin, N. C. &lt;strong&gt;X-linked clinical anophthalmos: localization of the gene to Xq27-Xq28.&lt;/strong&gt; Ophthalmic Paediat. Genet. 12: 43-48, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1679229/&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;1679229&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.3109/13816819109023084&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="1679229">Graham et al. (1991)</a>, noting that an additional affected male (IV-3) had since been born with a large open neural tube defect; he also had right anophthalmia, bilateral 2-3 cutaneous syndactyly of the toes, and irregular teeth. However, he did not exhibit developmental delay or behavioral problems, as had been observed in his affected uncles. Another male family member (II-18), who was initially considered unaffected, was noted to have cleft soft palate and a single ear tag. <a href="#11" class="mim-tip-reference" title="Johnston, J. J., Williamson, K. A., Chou, C. M., Sapp, J. C., Ansari, M., Chapman, H. M., Cooper, D. N., Dabib, T., Dudley, J. N., Holt, R. J., Ragge, N. K., Schaffer, A. A., Sen, S. K., Slavotinek, A. M., FitzPatrick, D. R., Glaser, T. M., Stewart, F., Black, G. C. M., Biesecker, L. G. &lt;strong&gt;NAA10 polyadenylation signal variants cause syndromic microphthalmia.&lt;/strong&gt; J. Med. Genet. 56: 444-453, 2019.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/30842225/&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;30842225&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmedgenet-2018-105836&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="30842225">Johnston et al. (2019)</a> also reported an unrelated boy (family 3) who was born with spina bifida and had widely spaced eyes, unilateral phthisis bulbi, downturned corners of the mouth, small penis, and small feet with upturned nails. He underwent repair of myelomeningocele, and evaluation at 8 months of age showed hydrocephalus with ventriculoperitoneal shunt. Brain MRI revealed ventriculomegaly with Chiari type 2 malformation, but he had normal developmental milestones. In addition, he had left grade 2 vesicoureteric reflux with a normal renal ultrasound. A maternal uncle was reported to have had anencephaly. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1679229+30842225" 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="Esmailpour, T., Riazifar, H., Liu, L., Donkervoort, S., Huang, V. H., Madaan, S., Shoucri, B. M., Busch, A., Wu, J., Towbin, A., Chadwick, R. B., Sequeira, A., Vawter, M. P., Sun, G., Johnston, J. J., Biesecker, L. G., Kawaguchi, R., Sun, H., Kimonis, V., Huang, T. &lt;strong&gt;A splice donor mutation in NAA10 results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndrome.&lt;/strong&gt; J. Med. Genet. 51: 185-196, 2014.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/24431331/&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;24431331&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=24431331[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/10.1136/jmedgenet-2013-101660&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="24431331">Esmailpour et al. (2014)</a> reexamined the 3 brothers with Lenz microphthalmia syndrome who were originally studied by <a href="#5" class="mim-tip-reference" title="Forrester, S., Kovach, M. J., Reynolds, N. M., Urban, R., Kimonis, V. &lt;strong&gt;Manifestations in four males with and an obligate carrier of the Lenz microphthalmia syndrome.&lt;/strong&gt; Am. J. Med. Genet. 98: 92-100, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11426460/&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;11426460&lt;/a&gt;]" pmid="11426460">Forrester et al. (2001)</a>, noting significant intrafamilial variation. All 3 sibs developed scoliosis to varying degrees, and 2 of them underwent surgery. Two of the brothers developed body hair to an uncomfortable degree, requiring frequent shaving. One of the brothers, who had previously been energetic, outgoing, and physically strong, showed loss of energy, increasing muscle stiffness, loss of short-term memory, and worsening autism-like behavior. He had 2 strokes, and MRI showed 50% narrowing of the carotid artery. Another brother, who was the most severely affected and had a seizure disorder, never developed words and relied on sign language to communicate. Histology of his skeletal muscle showed degeneration, and he also required surgical lengthening of his heel cord. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11426460+24431331" 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="#14" class="mim-tip-reference" title="Okumus, N., Zenciroglu, A., Demirel, N., Bas, A. Y., Ceylaner, S. &lt;strong&gt;Apparent Lenz microphthalmia syndrome: a patient with unusual manifestations.&lt;/strong&gt; Genet. Counsel. 19: 177-182, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18618992/&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;18618992&lt;/a&gt;]" pmid="18618992">Okumus et al. (2008)</a> reported a sporadic case of Lenz microphthalmia syndrome in a male infant who had additional features including macrophallus, broad chest with widely spaced nipples, and a wide gap between the first and second toes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18618992" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Cheng, H., Gottlieb, L., Marchi, E., Kleyner, R., Bhardwaj, P., Rope, A. F., Rosenheck, S., Moutton, S., Philippe, C., Eyaid, W., Alkuraya, F. S., Toribio, J., and 17 others. &lt;strong&gt;Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15.&lt;/strong&gt; Hum. Molec. Genet. 28: 2900-2919, 2019. Note: Erratum: Hum. Molec. Genet. 29: 877-878, 2020.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/31127942/&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;31127942&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=31127942[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/10.1093/hmg/ddz111&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="31127942">Cheng et al. (2019)</a> reported an 11-year-old boy (patient 23) with global developmental delay, severely impaired intellectual development, generalized hypotonia, microcornea, and microphthalmia. MRI showed agenesis of the corpus callosum and craniosynostosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31127942" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a 2-generation family from Northern Ireland with clinical anophthalmia segregating in a pattern consistent with X-linked recessive inheritance, <a href="#8" class="mim-tip-reference" title="Graham, C. A., Redmond, R. M., Nevin, N. C. &lt;strong&gt;X-linked clinical anophthalmos: localization of the gene to Xq27-Xq28.&lt;/strong&gt; Ophthalmic Paediat. Genet. 12: 43-48, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1679229/&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;1679229&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.3109/13816819109023084&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="1679229">Graham et al. (1991)</a> performed multipoint linkage analysis that suggested that the gene was localized to the Xq27-q28 region (maximum lod, 1.9 at theta = 0.08). The authors noted that although some early reports of 'anophthalmos' were probably instances of Norrie disease (<a href="/entry/310600">310600</a>), the linkage mapping would exclude that possibility in this family, since the Norrie disease gene is located at Xp11.4. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1679229" 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 linkage and haplotype analysis in a family with Lenz microphthalmia syndrome, <a href="#5" class="mim-tip-reference" title="Forrester, S., Kovach, M. J., Reynolds, N. M., Urban, R., Kimonis, V. &lt;strong&gt;Manifestations in four males with and an obligate carrier of the Lenz microphthalmia syndrome.&lt;/strong&gt; Am. J. Med. Genet. 98: 92-100, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11426460/&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;11426460&lt;/a&gt;]" pmid="11426460">Forrester et al. (2001)</a> mapped the disorder to a 17.65-cM region on Xq27-q28. This region overlapped that to which <a href="#8" class="mim-tip-reference" title="Graham, C. A., Redmond, R. M., Nevin, N. C. &lt;strong&gt;X-linked clinical anophthalmos: localization of the gene to Xq27-Xq28.&lt;/strong&gt; Ophthalmic Paediat. Genet. 12: 43-48, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1679229/&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;1679229&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.3109/13816819109023084&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="1679229">Graham et al. (1991)</a> had tentatively mapped a similar disorder in a family from Northern Ireland. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11426460+1679229" 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 4-generation family with unilateral clinical anophthalmia, <a href="#17" class="mim-tip-reference" title="Slavotinek, A., Lee, S. S., Hamilton, S. P. &lt;strong&gt;A family with X-linked anophthalmia: exclusion of SOX3 as a candidate gene.&lt;/strong&gt; Am. J. Med. Genet. 138A: 89-94, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16114045/&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;16114045&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.30872&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="16114045">Slavotinek et al. (2005)</a> performed linkage analysis and obtained the highest 2-point lod score (0.73, theta = 0) with markers DXS1205 and DXS1227 on chromosome Xq27, in a region overlapping the ANOP1 locus. Recombination events in 2 affected cousins (III-3 and III-5) excluded the MCOPS2 locus, and mutation analysis of the SOX3 gene (<a href="/entry/313430">313430</a>) did not reveal any sequence alterations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16114045" 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="#11" class="mim-tip-reference" title="Johnston, J. J., Williamson, K. A., Chou, C. M., Sapp, J. C., Ansari, M., Chapman, H. M., Cooper, D. N., Dabib, T., Dudley, J. N., Holt, R. J., Ragge, N. K., Schaffer, A. A., Sen, S. K., Slavotinek, A. M., FitzPatrick, D. R., Glaser, T. M., Stewart, F., Black, G. C. M., Biesecker, L. G. &lt;strong&gt;NAA10 polyadenylation signal variants cause syndromic microphthalmia.&lt;/strong&gt; J. Med. Genet. 56: 444-453, 2019.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/30842225/&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;30842225&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmedgenet-2018-105836&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="30842225">Johnston et al. (2019)</a> repeated multimarker analysis in the Irish family (family 1) originally studied by <a href="#8" class="mim-tip-reference" title="Graham, C. A., Redmond, R. M., Nevin, N. C. &lt;strong&gt;X-linked clinical anophthalmos: localization of the gene to Xq27-Xq28.&lt;/strong&gt; Ophthalmic Paediat. Genet. 12: 43-48, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1679229/&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;1679229&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.3109/13816819109023084&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="1679229">Graham et al. (1991)</a> and obtained a peak lod score of 2.19 with 75% penetrance, 2.46 with 50% penetrance, and 3.31 assuming gonadal mosaicism. Haplotype analysis revealed a recombination event that restricted the possible linkage region telomeric to chrX:144,028,513 (GRCh37), a region including the HMGB3 and NAA10 genes. Reexamination of linkage data from a 5-generation family (family 2) originally reported by <a href="#17" class="mim-tip-reference" title="Slavotinek, A., Lee, S. S., Hamilton, S. P. &lt;strong&gt;A family with X-linked anophthalmia: exclusion of SOX3 as a candidate gene.&lt;/strong&gt; Am. J. Med. Genet. 138A: 89-94, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16114045/&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;16114045&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.30872&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="16114045">Slavotinek et al. (2005)</a> and family 1 showed overlapping regions near Xqtel consistent with linkage. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1679229+30842225+16114045" 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>
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<strong>Molecular Genetics</strong>
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<p>In 3 affected brothers with Lenz microphthalmia syndrome, originally studied by <a href="#5" class="mim-tip-reference" title="Forrester, S., Kovach, M. J., Reynolds, N. M., Urban, R., Kimonis, V. &lt;strong&gt;Manifestations in four males with and an obligate carrier of the Lenz microphthalmia syndrome.&lt;/strong&gt; Am. J. Med. Genet. 98: 92-100, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11426460/&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;11426460&lt;/a&gt;]" pmid="11426460">Forrester et al. (2001)</a>, <a href="#4" class="mim-tip-reference" title="Esmailpour, T., Riazifar, H., Liu, L., Donkervoort, S., Huang, V. H., Madaan, S., Shoucri, B. M., Busch, A., Wu, J., Towbin, A., Chadwick, R. B., Sequeira, A., Vawter, M. P., Sun, G., Johnston, J. J., Biesecker, L. G., Kawaguchi, R., Sun, H., Kimonis, V., Huang, T. &lt;strong&gt;A splice donor mutation in NAA10 results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndrome.&lt;/strong&gt; J. Med. Genet. 51: 185-196, 2014.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/24431331/&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;24431331&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=24431331[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/10.1136/jmedgenet-2013-101660&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="24431331">Esmailpour et al. (2014)</a> performed exome sequencing and identified a splice site mutation in the NAA10 gene (<a href="/entry/300013#0002">300013.0002</a>) on chromosome Xq28. The mutation was confirmed by Sanger sequencing in the 3 sibs and their obligate heterozygote mother, as well as in a maternal aunt and her daughter, but was not found in 4 unaffected family members. The 3 heterozygotes had cutaneous syndactyly between the second and third toes and also displayed short terminal phalanges; because these manifestations were not seen in the mutation-negative family members, <a href="#4" class="mim-tip-reference" title="Esmailpour, T., Riazifar, H., Liu, L., Donkervoort, S., Huang, V. H., Madaan, S., Shoucri, B. M., Busch, A., Wu, J., Towbin, A., Chadwick, R. B., Sequeira, A., Vawter, M. P., Sun, G., Johnston, J. J., Biesecker, L. G., Kawaguchi, R., Sun, H., Kimonis, V., Huang, T. &lt;strong&gt;A splice donor mutation in NAA10 results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndrome.&lt;/strong&gt; J. Med. Genet. 51: 185-196, 2014.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/24431331/&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;24431331&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=24431331[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/10.1136/jmedgenet-2013-101660&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="24431331">Esmailpour et al. (2014)</a> suggested that the condition could be considered X-linked with reduced expressivity in heterozygotes. Analysis of the NAA10 gene in 11 male patients with microphthalmia and 'atypical Lenz syndrome' revealed no mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11426460+24431331" 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 trio exome sequencing in an Irish family (family 1) with clinical anophthalmia that was previously studied by <a href="#8" class="mim-tip-reference" title="Graham, C. A., Redmond, R. M., Nevin, N. C. &lt;strong&gt;X-linked clinical anophthalmos: localization of the gene to Xq27-Xq28.&lt;/strong&gt; Ophthalmic Paediat. Genet. 12: 43-48, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1679229/&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;1679229&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.3109/13816819109023084&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="1679229">Graham et al. (1991)</a>, <a href="#11" class="mim-tip-reference" title="Johnston, J. J., Williamson, K. A., Chou, C. M., Sapp, J. C., Ansari, M., Chapman, H. M., Cooper, D. N., Dabib, T., Dudley, J. N., Holt, R. J., Ragge, N. K., Schaffer, A. A., Sen, S. K., Slavotinek, A. M., FitzPatrick, D. R., Glaser, T. M., Stewart, F., Black, G. C. M., Biesecker, L. G. &lt;strong&gt;NAA10 polyadenylation signal variants cause syndromic microphthalmia.&lt;/strong&gt; J. Med. Genet. 56: 444-453, 2019.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/30842225/&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;30842225&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmedgenet-2018-105836&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="30842225">Johnston et al. (2019)</a> identified a mutation in the 3-prime UTR of the NAA10 gene (<a href="/entry/300013#0006">300013.0006</a>) that altered the polyadenylation sequence (PAS). The variant segregated fully with disease and was not found in the gnomAD database. Targeted Sanger sequencing in a 5-generation family (family 2) originally reported by <a href="#17" class="mim-tip-reference" title="Slavotinek, A., Lee, S. S., Hamilton, S. P. &lt;strong&gt;A family with X-linked anophthalmia: exclusion of SOX3 as a candidate gene.&lt;/strong&gt; Am. J. Med. Genet. 138A: 89-94, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16114045/&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;16114045&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.30872&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="16114045">Slavotinek et al. (2005)</a> identified another mutation in the 3-prime UTR (<a href="/entry/300013#0007">300013.0007</a>) that was present in 2 affected male cousins and 5 carrier females, and was not found in 2 unaffected males. In an unrelated proband with unilateral phthisis bulbi (family 3), targeted sequencing of 41 genes associated with several eye malformations revealed a third variant in the NAA10 3-prime UTR (<a href="/entry/300013#0008">300013.0008</a>). Targeted sequencing of the NAA10 PAS in 250 unrelated patients with microphthalmia/anophthalmia/coloboma and in 126 male patients with developmental eye disorders did not reveal any additional variants. Analysis of X inactivation showed greater than 90% skewing in 4 of 11 carrier females; however, carrier females did not show consistent skewing of X inactivation. The authors noted that all 3 families with mutations in NAA10 manifested microphthalmia/anophthalmia with variable additional features, and family 1 also exhibited variable expressivity, ranging from microphthalmia/anophthalmia associated with severe intellectual disability to isolated cleft palate and an ear tag. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=30842225+1679229+16114045" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In an 11-year-old boy (patient 23) with Lenz microphthalmia syndrome, <a href="#2" class="mim-tip-reference" title="Cheng, H., Gottlieb, L., Marchi, E., Kleyner, R., Bhardwaj, P., Rope, A. F., Rosenheck, S., Moutton, S., Philippe, C., Eyaid, W., Alkuraya, F. S., Toribio, J., and 17 others. &lt;strong&gt;Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15.&lt;/strong&gt; Hum. Molec. Genet. 28: 2900-2919, 2019. Note: Erratum: Hum. Molec. Genet. 29: 877-878, 2020.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/31127942/&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;31127942&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=31127942[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/10.1093/hmg/ddz111&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="31127942">Cheng et al. (2019)</a> identified a frameshift mutation in the NAA10 gene (<a href="/entry/300013#0009">300013.0009</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31127942" 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="seeAlso" class="mim-anchor"></a>
<h4 href="#mimSeeAlsoFold" id="mimSeeAlsoToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<a href="#Baraitser1982" class="mim-tip-reference" title="Baraitser, M., Winter, R. M., Taylor, D. S. I. &lt;strong&gt;Lenz microphthalmia--a case report.&lt;/strong&gt; Clin. Genet. 22: 99-101, 1982.">Baraitser et al. (1982)</a>
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<a id="references"class="mim-anchor"></a>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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<a id="1" class="mim-anchor"></a>
<a id="Baraitser1982" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Baraitser, M., Winter, R. M., Taylor, D. S. I.
<strong>Lenz microphthalmia--a case report.</strong>
Clin. Genet. 22: 99-101, 1982.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6890884/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6890884</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6890884" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1399-0004.1982.tb01420.x" target="_blank">Full Text</a>]
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<a id="2" class="mim-anchor"></a>
<a id="Cheng2019" class="mim-anchor"></a>
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Cheng, H., Gottlieb, L., Marchi, E., Kleyner, R., Bhardwaj, P., Rope, A. F., Rosenheck, S., Moutton, S., Philippe, C., Eyaid, W., Alkuraya, F. S., Toribio, J., and 17 others.
<strong>Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15.</strong>
Hum. Molec. Genet. 28: 2900-2919, 2019. Note: Erratum: Hum. Molec. Genet. 29: 877-878, 2020.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31127942/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31127942</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31127942[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=31127942" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1093/hmg/ddz111" target="_blank">Full Text</a>]
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<a id="Dinno1976" class="mim-anchor"></a>
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<p class="mim-text-font">
Dinno, N. D., Lawwill, T., Leggett, A. E., Shearer, L., Weisskopf, B.
<strong>Bilateral microcornea, coloboma, short stature and other skeletal anomalies--a new hereditary syndrome.</strong>
Birth Defects Orig. Art. Ser. XII(6): 109-114, 1976.
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<a id="4" class="mim-anchor"></a>
<a id="Esmailpour2014" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Esmailpour, T., Riazifar, H., Liu, L., Donkervoort, S., Huang, V. H., Madaan, S., Shoucri, B. M., Busch, A., Wu, J., Towbin, A., Chadwick, R. B., Sequeira, A., Vawter, M. P., Sun, G., Johnston, J. J., Biesecker, L. G., Kawaguchi, R., Sun, H., Kimonis, V., Huang, T.
<strong>A splice donor mutation in NAA10 results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndrome.</strong>
J. Med. Genet. 51: 185-196, 2014.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24431331/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24431331</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24431331[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=24431331" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1136/jmedgenet-2013-101660" target="_blank">Full Text</a>]
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<a id="Forrester2001" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Forrester, S., Kovach, M. J., Reynolds, N. M., Urban, R., Kimonis, V.
<strong>Manifestations in four males with and an obligate carrier of the Lenz microphthalmia syndrome.</strong>
Am. J. Med. Genet. 98: 92-100, 2001.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11426460/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11426460</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11426460" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
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<a id="6" class="mim-anchor"></a>
<a id="Francois1961" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Francois, J.
<strong>Heredity in Ophthalmology.</strong>
St. Louis: C. V. Mosby (pub.) 1961. P. 173.
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<a id="7" class="mim-anchor"></a>
<a id="Graham1988" class="mim-anchor"></a>
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Graham, C. A., McCleary, B. G., Malcolm, S., Kelly, E. D., Hill, A. J., Johnston, W. P., Nevin, N. C.
<strong>Linkage analysis in a family with X-linked anophthalmos. (Abstract)</strong>
J. Med. Genet. 25: 643 only, 1988.
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<a id="8" class="mim-anchor"></a>
<a id="Graham1991" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Graham, C. A., Redmond, R. M., Nevin, N. C.
<strong>X-linked clinical anophthalmos: localization of the gene to Xq27-Xq28.</strong>
Ophthalmic Paediat. Genet. 12: 43-48, 1991.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1679229/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1679229</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1679229" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.3109/13816819109023084" target="_blank">Full Text</a>]
</p>
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<a id="9" class="mim-anchor"></a>
<a id="Herrmann1969" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Herrmann, J., Opitz, J. M.
<strong>The Lenz microphthalmia syndrome.</strong>
Birth Defects Orig. Art. Ser. V(2): 138-143, 1969.
</p>
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<a id="10" class="mim-anchor"></a>
<a id="Hornby2000" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Hornby, S. J., Adolph, S., Gilbert, C. E., Dandona, L., Foster, A.
<strong>Visual acuity in children with coloboma: clinical features and a new phenotype classification system.</strong>
Ophthalmology 107: 511-520, 2000.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10711890/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10711890</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10711890" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/s0161-6420(99)00140-2" target="_blank">Full Text</a>]
</p>
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<a id="11" class="mim-anchor"></a>
<a id="Johnston2019" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Johnston, J. J., Williamson, K. A., Chou, C. M., Sapp, J. C., Ansari, M., Chapman, H. M., Cooper, D. N., Dabib, T., Dudley, J. N., Holt, R. J., Ragge, N. K., Schaffer, A. A., Sen, S. K., Slavotinek, A. M., FitzPatrick, D. R., Glaser, T. M., Stewart, F., Black, G. C. M., Biesecker, L. G.
<strong>NAA10 polyadenylation signal variants cause syndromic microphthalmia.</strong>
J. Med. Genet. 56: 444-453, 2019.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30842225/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30842225</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30842225" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1136/jmedgenet-2018-105836" target="_blank">Full Text</a>]
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<a id="12" class="mim-anchor"></a>
<a id="Lenz1955" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Lenz, W.
<strong>Recessiv-geschlechtsgebundene Mikrophthalmie mit multiplen Missbildungen.</strong>
Z. Kinderheilk. 77: 384-390, 1955.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13300470/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13300470</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13300470" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
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<li>
<a id="13" class="mim-anchor"></a>
<a id="Morini2005" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Morini, F., Pacilli, M., Spitz, L.
<strong>Bilateral anophthalmia and esophageal atresia: report of a new patient and review of the literature. (Letter)</strong>
Am. J. Med. Genet. 132A: 60-62, 2005.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15389708/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15389708</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15389708" 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.30283" target="_blank">Full Text</a>]
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<a id="14" class="mim-anchor"></a>
<a id="Okumus2008" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Okumus, N., Zenciroglu, A., Demirel, N., Bas, A. Y., Ceylaner, S.
<strong>Apparent Lenz microphthalmia syndrome: a patient with unusual manifestations.</strong>
Genet. Counsel. 19: 177-182, 2008.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18618992/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18618992</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18618992" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
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<a id="15" class="mim-anchor"></a>
<a id="Ozkinay1997" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Ozkinay, F. F., Ozkinay, C., Yuksel, H., Yenigun, A., Sapmaz, G., Aksu, O.
<strong>A case of Lenz microphthalmia syndrome.</strong>
J. Med. Genet. 34: 604-606, 1997.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9222975/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9222975</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9222975" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1136/jmg.34.7.604" target="_blank">Full Text</a>]
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<a id="16" class="mim-anchor"></a>
<a id="Reddy2003" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Reddy, M. A., Francis, P. J., Berry, V., Bradshaw, K., Patel, R. J., Maher, E. R., Kumar, R., Bhattacharya, S. S., Moore, A. T.
<strong>A clinical and molecular genetic study of a rare dominantly inherited syndrome (MRCS) comprising of (sic) microcornea, rod-cone dystrophy, cataract, and posterior staphyloma.</strong>
Brit. J. Ophthal. 87: 197-202, 2003.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12543751/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12543751</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12543751[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=12543751" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1136/bjo.87.2.197" target="_blank">Full Text</a>]
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<a id="17" class="mim-anchor"></a>
<a id="Slavotinek2005" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Slavotinek, A., Lee, S. S., Hamilton, S. P.
<strong>A family with X-linked anophthalmia: exclusion of SOX3 as a candidate gene.</strong>
Am. J. Med. Genet. 138A: 89-94, 2005.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16114045/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16114045</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16114045" 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.30872" target="_blank">Full Text</a>]
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<a id="18" class="mim-anchor"></a>
<a id="Smartt2005" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Smartt, J. M., Jr., Kherani, F., Saddiqi, F., Katowitz, J. A., Bartlett, S. P.
<strong>Microphthalmia and synostotic frontal plagiocephaly: a rare clinical entity with implications for craniofacial reconstruction.</strong>
Plast. Reconstr. Surg. 116: 1e-9e, 2005. Note: Electronic Article.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15988238/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15988238</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15988238" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1097/01.prs.0000169706.29344.e4" target="_blank">Full Text</a>]
</p>
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<a id="19" class="mim-anchor"></a>
<a id="Williamson2014" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Williamson, K. A., FitzPatrick, D. R.
<strong>The genetic architecture of microphthalmia, anophthalmia and coloboma.</strong>
Europ. J. Med. Genet. 57: 369-380, 2014.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24859618/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24859618</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24859618" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/j.ejmg.2014.05.002" target="_blank">Full Text</a>]
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
Carol A. Bocchini - updated : 04/26/2021
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Marla J. F. O'Neill - updated : 07/10/2020<br>Marla J. F. O'Neill - updated : 2/2/2015<br>Marla J. F. O'Neill - updated : 1/29/2014<br>Marla J. F. O'Neill - updated : 11/19/2008<br>Marla J. F. O'Neill - updated : 5/31/2006<br>Victor A. McKusick - updated : 2/5/2001<br>Jane Kelly - updated : 11/21/2000<br>Michael J. Wright - updated : 12/18/1997
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Creation Date:
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Victor A. McKusick : 6/4/1986
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alopez : 11/09/2022
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carol : 11/10/2021<br>carol : 05/05/2021<br>carol : 04/26/2021<br>carol : 07/10/2020<br>alopez : 07/10/2020<br>alopez : 07/10/2020<br>carol : 07/30/2019<br>carol : 02/27/2017<br>mcolton : 08/07/2015<br>alopez : 2/6/2015<br>alopez : 2/3/2015<br>mcolton : 2/2/2015<br>mcolton : 8/7/2014<br>carol : 1/30/2014<br>mcolton : 1/29/2014<br>carol : 1/29/2014<br>mcolton : 1/28/2014<br>terry : 10/13/2010<br>carol : 11/19/2008<br>terry : 11/19/2008<br>carol : 5/17/2007<br>carol : 6/2/2006<br>carol : 6/1/2006<br>carol : 5/31/2006<br>carol : 12/7/2005<br>terry : 3/11/2005<br>mgross : 3/17/2004<br>carol : 6/13/2001<br>cwells : 2/8/2001<br>terry : 2/5/2001<br>mcapotos : 11/21/2000<br>alopez : 1/15/1998<br>terry : 12/18/1997<br>mimadm : 2/28/1994<br>carol : 3/30/1992<br>supermim : 3/17/1992<br>carol : 5/29/1990<br>supermim : 3/20/1990<br>ddp : 10/26/1989
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<strong>#</strong> 309800
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<span class="mim-font">
MICROPHTHALMIA, SYNDROMIC 1; MCOPS1
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<span class="mim-font">
<em>Alternative titles; symbols</em>
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<span class="mim-font">
LENZ MICROPHTHALMIA SYNDROME<br />
LENZ DYSPLASIA<br />
MICROPHTHALMIA, SYNDROMIC 4, FORMERLY; MCOPS4, FORMERLY<br />
ANOP1, FORMERLY<br />
MAA, FORMERLY
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<strong>SNOMEDCT:</strong> 438504004; &nbsp;
<strong>ORPHA:</strong> 568; &nbsp;
<strong>DO:</strong> 0111799; &nbsp;
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<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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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">
Xq28
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Microphthalmia, syndromic 1
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309800
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X-linked
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3
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<span class="mim-font">
NAA10
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300013
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that syndromic microphthalmia-1 (MCOPS1) is caused by mutation in the NAA10 gene (300013) on chromosome Xq28.</p>
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<strong>Description</strong>
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<p>Syndromic microphthalmia-1 (MCOPS1) is an X-linked disorder characterized by unilateral or bilateral microphthalmia or anophthalmia. The most common extraocular features are impaired intellectual development, large and dysplastic ears with skin tags, high-arched or cleft palate, dental anomalies, urogenital anomalies, and skeletal manifestations including lordosis or scoliosis, clinodactyly, syndactyly, brachydactyly, and abnormal thumbs. There is considerable variation in severity among reported families (Slavotinek et al., 2005). </p><p><strong><em>Genetic Heterogeneity</em></strong></p><p>
Other forms of syndromic microphthalmia include MCOPS2 (300166), caused by the BCOR gene (300485) on chromosome Xp11; MCOPS3 (206900), caused by mutation in the SOX2 gene (184429) on chromosome 3q26; MCOPS5 (610125), caused by mutation in the OTX2 gene (600037) on chromosome 14q22; MCOPS6 (607932), caused by mutation in the BMP4 gene (112262) on chromosome 14q22; MCOPS7 (309801), caused by mutation in the HCCS gene (300056) on chromosome Xp22; MCOPS9 (601186), caused by mutation in the STRA6 gene (610745) on chromosome 15q24; MCOPS11 (614402), caused by mutation in the VAX1 gene (604294) on chromosome 10q25; MCOPS12 (615524), caused by mutation in the RARB gene (180220) on chromosome 3p24; MCOPS13 (300915), caused by mutation in the HMGB3 gene (300193) on chromosome Xq28; MCOPS14 (615877), caused by mutation in the MAB21L2 gene (604357) on chromosome 4q31; MCOPS15 (615145), caused by mutation in the TENM3 gene (610083) on chromosome 4q; and MCOPS16 (611038), caused by mutation in the RAX gene (601881) on chromosome 18q21.</p><p>A form of syndromic microphthalmia also maps to chromosome 6q21 (MCOPS8; 601349). A form of microphthalmia associated with progressive brain atrophy has been reported (MCOPS10; 611222).</p><p>A form of syndromic microphthalmia, formerly designated MCOPS4, has been found to be the same entity as MCOPS1.</p><p>Williamson and FitzPatrick (2014) reviewed genes associated with microphthalmia, anophthalmia, and/or coloboma phenotypes. They noted that when exon sequencing is combined with detection of gene deletions via aCGH and high-resolution analysis of intragenic microdeletions and microduplications, approximately 75% of cases of bilateral anophthalmia or severe microphthalmia are found to carry heterozygous mutations in the SOX2 (184429) or OTX2 (600037) genes, or biallelic mutations in the STRA6 gene (610745) (see also MCOPS5, 610125 and MCOPS9, 601186). </p>
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<strong>Nomenclature</strong>
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<p>The term 'anophthalmia' has been misused in the medical literature. True or primary anophthalmia is rarely compatible with life; in such cases, the primary optic vesicle has stopped developing and the abnormal development involves major defects in the brain as well (Francois, 1961). The diagnosis can only be made histologically (Reddy et al., 2003; Morini et al., 2005; Smartt et al., 2005), but this is rarely done. In most published cases, the term 'anophthalmia' is used as a synonym for the more appropriate terms 'extreme microphthalmia' or 'clinical anophthalmia.' </p>
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<h4>
<span class="mim-font">
<strong>Clinical Features</strong>
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<p>The eye anomaly was unilateral in some of the affected persons in the remarkable pedigree described by Lenz (1955). Narrow shoulders, double thumbs, other skeletal anomalies, and dental, urogenital and cardiovascular malformations were observed. The mother of the proband, a 13-year-old boy born blind, had a deformity of the fifth finger, suggesting mild expression. </p><p>Herrmann and Opitz (1969) described an affected 11-year-old boy. Features were physical and mental retardation, hypospadias and bilateral cryptorchidism, renal dysgenesis and hydroureters, left microphthalmos, agenesis of upper lateral incisors and irregular lower incisors, long cylindrical thorax with sloping shoulders and exaggerated lumbar lordosis, and cutaneous clubbing of the right third and fourth toes. The mother was short and had a small head circumference.</p><p>In 6 males in 4 sibships connected through females, Dinno et al. (1976) described moderate microphthalmos, microcornea, and large bilateral colobomas of the optic disc, choroid, ciliary body, and iris. The shoulders were sloping, with underdeveloped clavicles. Height was about 168 cm. The patients had normal intelligence. None had children.</p><p>In 2 generations of a family from Northern Ireland, Graham et al. (1991) described 7 males with clinical anophthalmia, 3 of whom were deceased at the time of study. Clinically affected males with bilateral disease had fusion of the eyelid margins (ankyloblepharon) and radiologically demonstrable underdevelopment of the bony orbits. All males had mental retardation (IQ less than 50) and 1 male was born with preauricular skin tags and a cleft soft palate. No deafness was present, and the lack of limb, hand, dental, and urogenital abnormalities appeared to exclude the diagnosis of Lenz microphthalmia syndrome. This family had originally been reported by Graham et al. (1988). </p><p>Ozkinay et al. (1997) reported a 15-year-old affected male who, in addition to features suggestive of Lenz microphthalmia, had dysgenesis of the corpus callosum and dilatation of the lateral cerebral ventricles. Ozkinay et al. (1997) pointed out similarities common to this condition, Goltz syndrome (305600), and Aicardi syndrome (304050). </p><p>Hornby et al. (2000) correlated visual function with clinical features and biometric findings in the eyes of children with coloboma. Of the 196 eyes with colobomatous malformations, 11 had microphthalmos with cyst (251505), and 185 eyes had coloboma (associated with microcornea in 155 eyes and with normal corneal diameter in 30 eyes). The visual prognosis depended on the phenotype of the more normal eye. Microphthalmos with cyst had the worst prognosis (all worse than 20/400). Microcornea with microphthalmos had a worse prognosis than microcornea without microphthalmos. For microcornea with microphthalmos, 67% saw worse than 20/400. Of the children with microcornea without microphthalmos, 76% saw better than 20/400. Simple coloboma (without microcornea or microphthalmos) had the best visual prognosis: only 7% saw 20/400 or worse. A corneal diameter of less than 6 mm had a poor visual prognosis, whereas a corneal diameter of more than 10 mm had a good prognosis. </p><p>Forrester et al. (2001) reported 3 brothers (aged 15 years, 9 years, and 18 months) and a maternal uncle (aged 27 years) with congenital clinical anophthalmia, delayed motor development, hypotonia, and moderate to severe mental retardation. They also had abnormally modeled ears, high-arched palate, pectus excavatum, finger and toe syndactyly, clinodactyly, fetal pads of the digits, scoliosis, and cardiac and renal abnormalities. An obligate carrier had abnormally modeled ears and syndactyly of toes 2 and 3 bilaterally. </p><p>Slavotinek et al. (2005) reported a 4-generation family in which 4 males had anophthalmia. Only 1 patient (III-5) was available for examination. His medical history included unilateral right anophthalmia, colorblindness, and bilateral hearing loss that had developed in adulthood following frequent ear infections. Examination at age 50 years showed prominent supraorbital ridges with a right-sided ocular prosthesis, minimal development of the right upper and lower eyelids, small right orbit, and right epicanthal fold. The left eye was normal. Skeletal findings included mild fifth-finger clinodactyly bilaterally, pes planus, and bilateral partial syndactyly between the second and third toes, but no scoliosis. His sister had a male infant who was stillborn and had microphthalmia and a horseshoe-shaped kidney. The proband also had an affected male cousin (III-3) who was reported to have right anophthalmia, colorblindness, and deafness in the left ear following an ear infection at age 41 years. The cousin's mother (II-2) was examined and had valgus deviation of the right thumb and pes planus, which the authors attributed to likely carrier status. Both cousins had normal intelligence and had completed university educations. Their maternal grandfather was reported to have had colorblindness, 6 toes, and pes planus, but no known microphthalmia or anophthalmia. </p><p>Johnston et al. (2019) restudied the family (family 1) originally reported by Graham et al. (1991), noting that an additional affected male (IV-3) had since been born with a large open neural tube defect; he also had right anophthalmia, bilateral 2-3 cutaneous syndactyly of the toes, and irregular teeth. However, he did not exhibit developmental delay or behavioral problems, as had been observed in his affected uncles. Another male family member (II-18), who was initially considered unaffected, was noted to have cleft soft palate and a single ear tag. Johnston et al. (2019) also reported an unrelated boy (family 3) who was born with spina bifida and had widely spaced eyes, unilateral phthisis bulbi, downturned corners of the mouth, small penis, and small feet with upturned nails. He underwent repair of myelomeningocele, and evaluation at 8 months of age showed hydrocephalus with ventriculoperitoneal shunt. Brain MRI revealed ventriculomegaly with Chiari type 2 malformation, but he had normal developmental milestones. In addition, he had left grade 2 vesicoureteric reflux with a normal renal ultrasound. A maternal uncle was reported to have had anencephaly. </p><p>Esmailpour et al. (2014) reexamined the 3 brothers with Lenz microphthalmia syndrome who were originally studied by Forrester et al. (2001), noting significant intrafamilial variation. All 3 sibs developed scoliosis to varying degrees, and 2 of them underwent surgery. Two of the brothers developed body hair to an uncomfortable degree, requiring frequent shaving. One of the brothers, who had previously been energetic, outgoing, and physically strong, showed loss of energy, increasing muscle stiffness, loss of short-term memory, and worsening autism-like behavior. He had 2 strokes, and MRI showed 50% narrowing of the carotid artery. Another brother, who was the most severely affected and had a seizure disorder, never developed words and relied on sign language to communicate. Histology of his skeletal muscle showed degeneration, and he also required surgical lengthening of his heel cord. </p><p>Okumus et al. (2008) reported a sporadic case of Lenz microphthalmia syndrome in a male infant who had additional features including macrophallus, broad chest with widely spaced nipples, and a wide gap between the first and second toes. </p><p>Cheng et al. (2019) reported an 11-year-old boy (patient 23) with global developmental delay, severely impaired intellectual development, generalized hypotonia, microcornea, and microphthalmia. MRI showed agenesis of the corpus callosum and craniosynostosis. </p>
</span>
<div>
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</div>
<div>
<h4>
<span class="mim-font">
<strong>Mapping</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>In a 2-generation family from Northern Ireland with clinical anophthalmia segregating in a pattern consistent with X-linked recessive inheritance, Graham et al. (1991) performed multipoint linkage analysis that suggested that the gene was localized to the Xq27-q28 region (maximum lod, 1.9 at theta = 0.08). The authors noted that although some early reports of 'anophthalmos' were probably instances of Norrie disease (310600), the linkage mapping would exclude that possibility in this family, since the Norrie disease gene is located at Xp11.4. </p><p>By linkage and haplotype analysis in a family with Lenz microphthalmia syndrome, Forrester et al. (2001) mapped the disorder to a 17.65-cM region on Xq27-q28. This region overlapped that to which Graham et al. (1991) had tentatively mapped a similar disorder in a family from Northern Ireland. </p><p>In a 4-generation family with unilateral clinical anophthalmia, Slavotinek et al. (2005) performed linkage analysis and obtained the highest 2-point lod score (0.73, theta = 0) with markers DXS1205 and DXS1227 on chromosome Xq27, in a region overlapping the ANOP1 locus. Recombination events in 2 affected cousins (III-3 and III-5) excluded the MCOPS2 locus, and mutation analysis of the SOX3 gene (313430) did not reveal any sequence alterations. </p><p>Johnston et al. (2019) repeated multimarker analysis in the Irish family (family 1) originally studied by Graham et al. (1991) and obtained a peak lod score of 2.19 with 75% penetrance, 2.46 with 50% penetrance, and 3.31 assuming gonadal mosaicism. Haplotype analysis revealed a recombination event that restricted the possible linkage region telomeric to chrX:144,028,513 (GRCh37), a region including the HMGB3 and NAA10 genes. Reexamination of linkage data from a 5-generation family (family 2) originally reported by Slavotinek et al. (2005) and family 1 showed overlapping regions near Xqtel consistent with linkage. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Molecular Genetics</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>In 3 affected brothers with Lenz microphthalmia syndrome, originally studied by Forrester et al. (2001), Esmailpour et al. (2014) performed exome sequencing and identified a splice site mutation in the NAA10 gene (300013.0002) on chromosome Xq28. The mutation was confirmed by Sanger sequencing in the 3 sibs and their obligate heterozygote mother, as well as in a maternal aunt and her daughter, but was not found in 4 unaffected family members. The 3 heterozygotes had cutaneous syndactyly between the second and third toes and also displayed short terminal phalanges; because these manifestations were not seen in the mutation-negative family members, Esmailpour et al. (2014) suggested that the condition could be considered X-linked with reduced expressivity in heterozygotes. Analysis of the NAA10 gene in 11 male patients with microphthalmia and 'atypical Lenz syndrome' revealed no mutations. </p><p>By trio exome sequencing in an Irish family (family 1) with clinical anophthalmia that was previously studied by Graham et al. (1991), Johnston et al. (2019) identified a mutation in the 3-prime UTR of the NAA10 gene (300013.0006) that altered the polyadenylation sequence (PAS). The variant segregated fully with disease and was not found in the gnomAD database. Targeted Sanger sequencing in a 5-generation family (family 2) originally reported by Slavotinek et al. (2005) identified another mutation in the 3-prime UTR (300013.0007) that was present in 2 affected male cousins and 5 carrier females, and was not found in 2 unaffected males. In an unrelated proband with unilateral phthisis bulbi (family 3), targeted sequencing of 41 genes associated with several eye malformations revealed a third variant in the NAA10 3-prime UTR (300013.0008). Targeted sequencing of the NAA10 PAS in 250 unrelated patients with microphthalmia/anophthalmia/coloboma and in 126 male patients with developmental eye disorders did not reveal any additional variants. Analysis of X inactivation showed greater than 90% skewing in 4 of 11 carrier females; however, carrier females did not show consistent skewing of X inactivation. The authors noted that all 3 families with mutations in NAA10 manifested microphthalmia/anophthalmia with variable additional features, and family 1 also exhibited variable expressivity, ranging from microphthalmia/anophthalmia associated with severe intellectual disability to isolated cleft palate and an ear tag. </p><p>In an 11-year-old boy (patient 23) with Lenz microphthalmia syndrome, Cheng et al. (2019) identified a frameshift mutation in the NAA10 gene (300013.0009). </p>
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>See Also:</strong>
</span>
</h4>
<span class="mim-text-font">
Baraitser et al. (1982)
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>REFERENCES</strong>
</span>
</h4>
<div>
<p />
</div>
<div>
<ol>
<li>
<p class="mim-text-font">
Baraitser, M., Winter, R. M., Taylor, D. S. I.
<strong>Lenz microphthalmia--a case report.</strong>
Clin. Genet. 22: 99-101, 1982.
[PubMed: 6890884]
[Full Text: https://doi.org/10.1111/j.1399-0004.1982.tb01420.x]
</p>
</li>
<li>
<p class="mim-text-font">
Cheng, H., Gottlieb, L., Marchi, E., Kleyner, R., Bhardwaj, P., Rope, A. F., Rosenheck, S., Moutton, S., Philippe, C., Eyaid, W., Alkuraya, F. S., Toribio, J., and 17 others.
<strong>Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15.</strong>
Hum. Molec. Genet. 28: 2900-2919, 2019. Note: Erratum: Hum. Molec. Genet. 29: 877-878, 2020.
[PubMed: 31127942]
[Full Text: https://doi.org/10.1093/hmg/ddz111]
</p>
</li>
<li>
<p class="mim-text-font">
Dinno, N. D., Lawwill, T., Leggett, A. E., Shearer, L., Weisskopf, B.
<strong>Bilateral microcornea, coloboma, short stature and other skeletal anomalies--a new hereditary syndrome.</strong>
Birth Defects Orig. Art. Ser. XII(6): 109-114, 1976.
</p>
</li>
<li>
<p class="mim-text-font">
Esmailpour, T., Riazifar, H., Liu, L., Donkervoort, S., Huang, V. H., Madaan, S., Shoucri, B. M., Busch, A., Wu, J., Towbin, A., Chadwick, R. B., Sequeira, A., Vawter, M. P., Sun, G., Johnston, J. J., Biesecker, L. G., Kawaguchi, R., Sun, H., Kimonis, V., Huang, T.
<strong>A splice donor mutation in NAA10 results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndrome.</strong>
J. Med. Genet. 51: 185-196, 2014.
[PubMed: 24431331]
[Full Text: https://doi.org/10.1136/jmedgenet-2013-101660]
</p>
</li>
<li>
<p class="mim-text-font">
Forrester, S., Kovach, M. J., Reynolds, N. M., Urban, R., Kimonis, V.
<strong>Manifestations in four males with and an obligate carrier of the Lenz microphthalmia syndrome.</strong>
Am. J. Med. Genet. 98: 92-100, 2001.
[PubMed: 11426460]
</p>
</li>
<li>
<p class="mim-text-font">
Francois, J.
<strong>Heredity in Ophthalmology.</strong>
St. Louis: C. V. Mosby (pub.) 1961. P. 173.
</p>
</li>
<li>
<p class="mim-text-font">
Graham, C. A., McCleary, B. G., Malcolm, S., Kelly, E. D., Hill, A. J., Johnston, W. P., Nevin, N. C.
<strong>Linkage analysis in a family with X-linked anophthalmos. (Abstract)</strong>
J. Med. Genet. 25: 643 only, 1988.
</p>
</li>
<li>
<p class="mim-text-font">
Graham, C. A., Redmond, R. M., Nevin, N. C.
<strong>X-linked clinical anophthalmos: localization of the gene to Xq27-Xq28.</strong>
Ophthalmic Paediat. Genet. 12: 43-48, 1991.
[PubMed: 1679229]
[Full Text: https://doi.org/10.3109/13816819109023084]
</p>
</li>
<li>
<p class="mim-text-font">
Herrmann, J., Opitz, J. M.
<strong>The Lenz microphthalmia syndrome.</strong>
Birth Defects Orig. Art. Ser. V(2): 138-143, 1969.
</p>
</li>
<li>
<p class="mim-text-font">
Hornby, S. J., Adolph, S., Gilbert, C. E., Dandona, L., Foster, A.
<strong>Visual acuity in children with coloboma: clinical features and a new phenotype classification system.</strong>
Ophthalmology 107: 511-520, 2000.
[PubMed: 10711890]
[Full Text: https://doi.org/10.1016/s0161-6420(99)00140-2]
</p>
</li>
<li>
<p class="mim-text-font">
Johnston, J. J., Williamson, K. A., Chou, C. M., Sapp, J. C., Ansari, M., Chapman, H. M., Cooper, D. N., Dabib, T., Dudley, J. N., Holt, R. J., Ragge, N. K., Schaffer, A. A., Sen, S. K., Slavotinek, A. M., FitzPatrick, D. R., Glaser, T. M., Stewart, F., Black, G. C. M., Biesecker, L. G.
<strong>NAA10 polyadenylation signal variants cause syndromic microphthalmia.</strong>
J. Med. Genet. 56: 444-453, 2019.
[PubMed: 30842225]
[Full Text: https://doi.org/10.1136/jmedgenet-2018-105836]
</p>
</li>
<li>
<p class="mim-text-font">
Lenz, W.
<strong>Recessiv-geschlechtsgebundene Mikrophthalmie mit multiplen Missbildungen.</strong>
Z. Kinderheilk. 77: 384-390, 1955.
[PubMed: 13300470]
</p>
</li>
<li>
<p class="mim-text-font">
Morini, F., Pacilli, M., Spitz, L.
<strong>Bilateral anophthalmia and esophageal atresia: report of a new patient and review of the literature. (Letter)</strong>
Am. J. Med. Genet. 132A: 60-62, 2005.
[PubMed: 15389708]
[Full Text: https://doi.org/10.1002/ajmg.a.30283]
</p>
</li>
<li>
<p class="mim-text-font">
Okumus, N., Zenciroglu, A., Demirel, N., Bas, A. Y., Ceylaner, S.
<strong>Apparent Lenz microphthalmia syndrome: a patient with unusual manifestations.</strong>
Genet. Counsel. 19: 177-182, 2008.
[PubMed: 18618992]
</p>
</li>
<li>
<p class="mim-text-font">
Ozkinay, F. F., Ozkinay, C., Yuksel, H., Yenigun, A., Sapmaz, G., Aksu, O.
<strong>A case of Lenz microphthalmia syndrome.</strong>
J. Med. Genet. 34: 604-606, 1997.
[PubMed: 9222975]
[Full Text: https://doi.org/10.1136/jmg.34.7.604]
</p>
</li>
<li>
<p class="mim-text-font">
Reddy, M. A., Francis, P. J., Berry, V., Bradshaw, K., Patel, R. J., Maher, E. R., Kumar, R., Bhattacharya, S. S., Moore, A. T.
<strong>A clinical and molecular genetic study of a rare dominantly inherited syndrome (MRCS) comprising of (sic) microcornea, rod-cone dystrophy, cataract, and posterior staphyloma.</strong>
Brit. J. Ophthal. 87: 197-202, 2003.
[PubMed: 12543751]
[Full Text: https://doi.org/10.1136/bjo.87.2.197]
</p>
</li>
<li>
<p class="mim-text-font">
Slavotinek, A., Lee, S. S., Hamilton, S. P.
<strong>A family with X-linked anophthalmia: exclusion of SOX3 as a candidate gene.</strong>
Am. J. Med. Genet. 138A: 89-94, 2005.
[PubMed: 16114045]
[Full Text: https://doi.org/10.1002/ajmg.a.30872]
</p>
</li>
<li>
<p class="mim-text-font">
Smartt, J. M., Jr., Kherani, F., Saddiqi, F., Katowitz, J. A., Bartlett, S. P.
<strong>Microphthalmia and synostotic frontal plagiocephaly: a rare clinical entity with implications for craniofacial reconstruction.</strong>
Plast. Reconstr. Surg. 116: 1e-9e, 2005. Note: Electronic Article.
[PubMed: 15988238]
[Full Text: https://doi.org/10.1097/01.prs.0000169706.29344.e4]
</p>
</li>
<li>
<p class="mim-text-font">
Williamson, K. A., FitzPatrick, D. R.
<strong>The genetic architecture of microphthalmia, anophthalmia and coloboma.</strong>
Europ. J. Med. Genet. 57: 369-380, 2014.
[PubMed: 24859618]
[Full Text: https://doi.org/10.1016/j.ejmg.2014.05.002]
</p>
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