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Entry
- #216400 - COCKAYNE SYNDROME A; CSA
- OMIM
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<span class="h4">#216400</span>
<br />
<strong>Table of Contents</strong>
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<li role="presentation">
<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/216400"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#clinicalFeatures">Clinical Features</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#inheritance">Inheritance</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#biochemicalFeatures">Biochemical Features</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#diagnosis">Diagnosis</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#clinicalManagement">Clinical Management</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#history">History</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=COCKAYNE SYNDROME A" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
<div><a href="#mimEuroGentestFold" id="mimEuroGentestToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A list of European laboratories that offer genetic testing."><span id="mimEuroGentestToggleTriangle" class="small" style="margin-left: -0.8em;">&#9658;</span>EuroGentest</div>
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=638&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Cockayne syndrome&nbsp;</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=12008&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Cockayne syndrome type 1&nbsp;</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=12009&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Cockayne syndrome type 2&nbsp;</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=12010&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Cockayne syndrome type 3&nbsp;</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1342/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="#mimOrphanetFold" id="mimOrphanetToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="European reference portal for information on rare diseases and orphan drugs."><span id="mimOrphanetToggleTriangle" class="small" style="margin-left: -0.8em;">&#9658;</span>Orphanet</div>
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=191" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Cockayne syndrome</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=90321" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Cockayne syndrome type 1</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=90322" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Cockayne syndrome type 2</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=90324" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Cockayne syndrome type 3</a></div>
</div>
<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/47ddb945-feb5-46b8-9a54-314f4c9ca9ec/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><a href="https://www.alliancegenome.org/disease/DOID:0080907" 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/216400" 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:0080907" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<div><a href="https://catalog.coriell.org/Search?q=OmimNum:216400" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
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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.">
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<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> 890433006<br />
<strong>ORPHA:</strong> 191, 90321, 90322, 90324<br />
<strong>DO:</strong> 0080907<br />
">ICD+</a>
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<div>
<span class="h3">
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
216400
</span>
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<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
COCKAYNE SYNDROME A; CSA
</span>
</h3>
</div>
<div>
<br />
</div>
</div>
<div>
<a id="phenotypeMap" class="mim-anchor"></a>
<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
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<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/5/193?start=-3&limit=10&highlight=193">
5q12.1
</a>
</span>
</td>
<td>
<span class="mim-font">
Cockayne syndrome, type A
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/216400"> 216400 </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">
ERCC8
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609412"> 609412 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
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<a href="/clinicalSynopsis/216400" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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&nbsp;
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PheneGene Graphics <span class="caret"></span>
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<ul class="dropdown-menu" style="width: 17em;">
<li><a href="/graph/linear/216400" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/216400" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
</ul>
</div>
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
<div>
<p />
</div>
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small" style="margin: 5px">
<div>
<div>
<span class="h5 mim-font">
<strong> INHERITANCE </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> GROWTH </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Other </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Intrauterine growth retardation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22033007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22033007</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/764.90" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">764.90</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/764.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">764.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0015934&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0015934</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001511" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001511</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001511" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001511</a>]</span><br /> -
Severe postnatal growth deficiency <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857641&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857641</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008850" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008850</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008850" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008850</a>]</span><br /> -
Cachectic dwarfism <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857642&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857642</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> HEAD & NECK </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Head </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Microcephaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1148757008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1148757008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q02" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q02</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/742.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">742.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4551563&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551563</a>, <a href="https://bioportal.bioontology.org/search?q=C0025958&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025958</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000252</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000252</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=0584d323b99dcd7001cc50e224947aca" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Microcephaly-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=0584d323b99dcd7001cc50e224947aca&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Mandible prognathism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/109504005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">109504005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22810007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22810007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M26.213" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M26.213</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/524.23" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">524.23</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0399526&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0399526</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000303" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000303</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000303" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000303</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Face </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Loss of facial adipose tissue <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837767&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837767</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000292" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000292</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000292" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000292</a>]</span><br /> -
Wizened face <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857710&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857710</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005328" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005328</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005328" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005328</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Ears </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Malformed ears <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0857379&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0857379</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000377" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000377</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000377" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000377</a>]</span><br /> -
Sensorineural hearing loss <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/60700002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">60700002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H90.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H90.5</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/389.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389.10</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/389.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018784&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018784</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000407" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000407</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000407" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000407</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Eyes </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Salt and pepper retinal pigmentation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857644&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857644</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007814" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007814</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007814" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007814</a>]</span><br /> -
Pigmentary retinopathy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/28835009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">28835009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H35.52" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H35.52</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4551715&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551715</a>, <a href="https://bioportal.bioontology.org/search?q=C0035334&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0035334</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000510</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0000580" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000580</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000580" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000580</a>]</span><br /> -
Optic atrophy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/76976005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">76976005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H47.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H47.2</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H47.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H47.20</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/377.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">377.10</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/377.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">377.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0029124&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0029124</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000648" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000648</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000648" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000648</a>]</span><br /> -
Strabismus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22066006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22066006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H50.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H50.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H50.40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H50.40</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0038379&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0038379</a>, <a href="https://bioportal.bioontology.org/search?q=C2020541&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2020541</a>, <a href="https://bioportal.bioontology.org/search?q=C1423541&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1423541</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000486" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000486</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000486" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000486</a>]</span><br /> -
Hyperopia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/38101003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">38101003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H52.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H52.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/367.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">367.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020490&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020490</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000540" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000540</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000540" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000540</a>]</span><br /> -
Corneal opacity <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/64634000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">64634000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/413921009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">413921009</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/371.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">371.00</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0010038&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0010038</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007957" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007957</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007957" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007957</a>]</span><br /> -
Decreased lacrimation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0235857&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0235857</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000633" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000633</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000633" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000633</a>]</span><br /> -
Nystagmus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/563001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">563001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H55.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H55.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H55.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H55.00</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/379.50" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">379.50</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0028738&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0028738</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000639" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000639</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000639" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000639</a>]</span><br /> -
Cataracts <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/193570009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">193570009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/247053007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">247053007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95722004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95722004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H26.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H26.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/366" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">366</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/366.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">366.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0086543&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0086543</a>, <a href="https://bioportal.bioontology.org/search?q=C0521707&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0521707</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000518" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000518</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000518" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000518</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Nose </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Slender nose <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857645&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857645</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000417" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000417</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000417" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000417</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">
- Dental caries <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/80967001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">80967001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K02" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K02</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/K02.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K02.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/521.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">521.0</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/521.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">521.00</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011334&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011334</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000670" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000670</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000670" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000670</a>]</span><br /> -
Delayed eruption of deciduous teeth <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849538&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849538</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000680" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000680</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000680" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000680</a>]</span><br /> -
Malocclusion <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/707598004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">707598004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/47944004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">47944004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M26.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M26.4</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/524.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">524.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0024636&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0024636</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000689" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000689</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000689" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000689</a>]</span><br /> -
Absent/hypoplastic teeth <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857646&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857646</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> CARDIOVASCULAR </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Heart </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Cardiac arrhythmias <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/698247007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">698247007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I49.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I49.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/427.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">427.9</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/427" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">427</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0003811&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003811</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011675" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011675</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011675" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011675</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Vascular </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Hypertension <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/38341003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">38341003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I10</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/401-405.99" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">401-405.99</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/997.91" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">997.91</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020538&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020538</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000822" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000822</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000822" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000822</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> Liver </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Hepatomegaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/80515008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">80515008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R16.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R16.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/789.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">789.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0019209&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019209</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002240" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002240</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002240" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002240</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Spleen </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Splenomegaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/16294009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">16294009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R16.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R16.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/789.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">789.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0038002&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0038002</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001744" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001744</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001744" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001744</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">
- 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 /> -
Micropenis <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>]</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=C0266435&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266435</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>, <a href="https://bioportal.bioontology.org/search?q=C1387005&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1387005</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008736" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008736</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> Kidneys </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Proteinuria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/29738008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">29738008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/231860006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">231860006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R80.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R80.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R80" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R80</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/791.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">791.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1279888&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1279888</a>, <a href="https://bioportal.bioontology.org/search?q=C0033687&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0033687</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000093" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000093</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000093" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000093</a>]</span><br /> -
Renal failure <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/42399005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">42399005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N19" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N19</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/586" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">586</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0035078&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0035078</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000083" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000083</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000083" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000083</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> Skull </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Thickened calvarium <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1858452&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1858452</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002684" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002684</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002684" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002684</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Spine </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Kyphosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/71311003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">71311003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/414564002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">414564002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/413428007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">413428007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M40.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M40.20</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q76.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q76.41</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/737.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">737.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0265673&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0265673</a>, <a href="https://bioportal.bioontology.org/search?q=C0022821&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022821</a>, <a href="https://bioportal.bioontology.org/search?q=C2115817&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2115817</a>, <a href="https://bioportal.bioontology.org/search?q=C0022822&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022822</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002808" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002808</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002808" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002808</a>]</span><br /> -
Vertebral body abnormalities <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857648&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857648</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Pelvis </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Small, squared off pelvis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857649&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857649</a>]</span><br /> -
Hypoplastic iliac wings <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1865027&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1865027</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002866" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002866</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002866" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002866</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">
- Mild to moderate joint limitation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857650&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857650</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">
- Sclerotic ivory phalangeal epiphyses <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857651&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857651</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010234" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010234</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010234" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010234</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>
<span class="mim-font">
- Precociously senile appearance <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857656&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857656</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007495" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007495</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007495" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007495</a>]</span><br />
</span>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Skin </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Photosensitivity <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/90128006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">90128006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0349506&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0349506</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000992" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000992</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000992" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000992</a>]</span><br /> -
Scarring <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/48677004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">48677004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/275322007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">275322007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/12402003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">12402003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L90.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L90.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2004491&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2004491</a>, <a href="https://bioportal.bioontology.org/search?q=C0008767&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0008767</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100699" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100699</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100699" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100699</a>]</span><br /> -
Pigmentation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263839000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263839000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/51083003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">51083003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0031911&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0031911</a>, <a href="https://bioportal.bioontology.org/search?q=C3665492&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3665492</a>]</span><br /> -
Atrophy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/13331008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">13331008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0333641&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0333641</a>]</span><br /> -
Anhidrosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/14662005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">14662005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/39659002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">39659002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L74.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L74.4</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/705.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">705.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0003028&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003028</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000970" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000970</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000970" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000970</a>]</span><br /> -
Dry skin <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/52475004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">52475004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E50.8" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E50.8</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0043345&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0043345</a>, <a href="https://bioportal.bioontology.org/search?q=C0720057&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0720057</a>, <a href="https://bioportal.bioontology.org/search?q=C0151908&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151908</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000958" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000958</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000958" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000958</a>]</span><br /> -
Decreased subcutaneous adipose tissue <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857657&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857657</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003758" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003758</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003758" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003758</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Hair </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Thin, dry hair <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857658&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857658</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MUSCLE, SOFT TISSUES </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Decreased subcutaneous adipose tissue <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857657&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857657</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003758" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003758</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003758" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003758</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> NEUROLOGIC </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Central Nervous System </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Mental retardation <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 /> -
Normal pressure hydrocephalus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/30753002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">30753002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G91.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G91.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020258&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020258</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002343" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002343</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002343" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002343</a>]</span><br /> -
Dementia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/52448006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">52448006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/12348006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">12348006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F03.90" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F03.90</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/F03" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F03</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/290.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">290.1</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/294.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">294.2</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/290" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">290</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011265&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011265</a>, <a href="https://bioportal.bioontology.org/search?q=C0497327&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0497327</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000726" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000726</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000726" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000726</a>]</span><br /> -
Basal ganglia calcifications <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/16818591000119108" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">16818591000119108</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G23.8" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G23.8</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1389280&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1389280</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002135" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002135</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002135" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002135</a>]</span><br /> -
Patchy demyelination of subcortical white matter <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857638&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857638</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002545" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002545</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002545" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002545</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 /> -
Cerebral atrophy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/278849000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">278849000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0235946&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0235946</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002059" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002059</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002059" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002059</a>]</span><br /> -
Dysarthric speech <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/8011004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">8011004</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/438.13" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">438.13</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/784.51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">784.51</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0013362&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013362</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001260" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001260</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001260" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001260</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Peripheral Nervous System </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Dysmyelination <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857639&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857639</a>]</span><br /> -
Gait disturbance <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22325002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22325002</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/781.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">781.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0575081&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0575081</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001288" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001288</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001288" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001288</a>]</span><br /> -
Ataxia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/20262006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">20262006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/39384006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">39384006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/85102008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">85102008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R27.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R27.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/438.84" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">438.84</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0004134&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0004134</a>, <a href="https://bioportal.bioontology.org/search?q=C1135207&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1135207</a>, <a href="https://bioportal.bioontology.org/search?q=C0007758&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0007758</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001251" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001251</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0010867" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010867</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001251" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001251</a>]</span><br /> -
Tremor <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/26079004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">26079004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R25.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R25.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0040822&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0040822</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001337" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001337</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001337" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001337</a>]</span><br /> -
Weakness <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/13791008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">13791008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R53.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R53.81</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R53.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R53.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/799.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">799.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3714552&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3714552</a>, <a href="https://bioportal.bioontology.org/search?q=C0004093&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0004093</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0025406" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0025406</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0025406" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0025406</a>]</span><br /> -
Peripheral neuropathy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/42658009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">42658009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/302226006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">302226006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G64" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G64</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/350-359.99" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">350-359.99</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4721453&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4721453</a>, <a href="https://bioportal.bioontology.org/search?q=C0031117&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0031117</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009830" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009830</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0000759" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000759</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001271" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001271</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009830" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009830</a>]</span><br /> -
Slowed nerve conduction velocities <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857640&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857640</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000762" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000762</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000762" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000762</a>]</span><br />
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- Irregular menstrual cycles <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/80182007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">80182007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0156404&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0156404</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000858" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000858</a>]</span><br /> -
Hypogonadism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/48130008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">48130008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020619&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020619</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000135" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000135</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000135" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000135</a>]</span><br />
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<strong> LABORATORY ABNORMALITIES </strong>
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- Thymic hormone decreased <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857652&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857652</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003357" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003357</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003357" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003357</a>]</span><br /> -
At least 2 complementation groups <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857653&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857653</a>]</span><br /> -
Abnormal myelination in sural nerve biopsies <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857654&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857654</a>]</span><br /> -
Disturbed visual and brainstem auditory evoked responses indicative of CNS demyelination <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857655&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857655</a>]</span><br /> -
Increased cellular sensitivity to UV light <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857707&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857707</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003224" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003224</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003224" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003224</a>]</span><br />
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<strong> MISCELLANEOUS </strong>
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- Phenotypic overlap with xeroderma pigmentosum (see, e.g., <a href="/entry/278700">278700</a>)<br /> -
Genetic heterogeneity (see, e.g., Cockayne syndrome type B, <a href="/entry/133540">133540</a>) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0242960&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0242960</a>]</span><br />
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<strong> MOLECULAR BASIS </strong>
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- Caused by mutations in the ERCC excision repair 8, CSA ubiquitin ligase complex subunit gene (ERCC8, <a href="/entry/609412#0001">609412.0001</a>)<br />
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<p>A number sign (#) is used with this entry because Cockayne syndrome A (CSA) is caused by homozygous or compound heterozygous mutation in the gene encoding the group 8 excision repair cross-complementing protein (ERCC8; <a href="/entry/609412">609412</a>) on chromosome 5q12.</p>
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<strong>Description</strong>
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<p>Cockayne syndrome (CS) is characterized by abnormal and slow growth and development that becomes evident within the first few years after birth. 'Cachectic dwarfism' describes the outward appearance of afflicted individuals. Other features include cutaneous photosensitivity, thin, dry hair, a progeroid appearance, progressive pigmentary retinopathy, sensorineural hearing loss, dental caries, and a characteristic stance in the ambulatory patient. Patients often show disproportionately long limbs with large hands and feet, and flexion contractures of joints are usual skeletal features. Knee contractures result in a 'horse-riding stance.' There is delayed neural development and severe progressive neurologic degeneration resulting in mental retardation. The mean age at death in reported cases is 12.5 years, although a few affected individuals have lived into their late teens or twenties. Remarkably, in striking contrast with xeroderma pigmentosum, patients with CS have no significant increase in skin cancer or infection (<a href="#36" class="mim-tip-reference" title="Nance, M. A., Berry, S. A. &lt;strong&gt;Cockayne syndrome: review of 140 cases.&lt;/strong&gt; Am. J. Med. Genet. 42: 68-84, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1308368/&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;1308368&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320420115&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="1308368">Nance and Berry, 1992</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1308368" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#26" class="mim-tip-reference" title="Lowry, R. B. &lt;strong&gt;Early onset of Cockayne syndrome. (Editorial)&lt;/strong&gt; Am. J. Med. Genet. 13: 209-210, 1982.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7137232/&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;7137232&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320130211&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="7137232">Lowry (1982)</a> noted that there is an early-onset form of Cockayne syndrome in which patients may show abnormalities at birth and have a shorter survival. <a href="#26" class="mim-tip-reference" title="Lowry, R. B. &lt;strong&gt;Early onset of Cockayne syndrome. (Editorial)&lt;/strong&gt; Am. J. Med. Genet. 13: 209-210, 1982.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7137232/&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;7137232&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320130211&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="7137232">Lowry (1982)</a> thus suggested that CS could be divided clinically into the more common type I, with classic CS symptoms that manifest within the first few years or life, and the less common type II, with more severe symptoms that manifest prenatally. <a href="#29" class="mim-tip-reference" title="Mallery, D. L., Tanganelli, B., Colella, S., Steingrimsdottir, H., van Gool, A. J., Troelstra, C., Stefanini, M., Lehmann, A. R. &lt;strong&gt;Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome.&lt;/strong&gt; Am. J. Hum. Genet. 62: 77-85, 1998. Note: Erratum: Am. J. Hum. Genet. 64: 1491 only, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9443879/&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;9443879&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/301686&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="9443879">Mallery et al. (1998)</a> found no correlation between genotype and phenotype among 16 patients with CS of varying severities, and concluded that clinical differences were based on other genetic backgrounds or the intrauterine environment. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9443879+7137232" 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 of Cockayne Syndrome</em></strong></p><p>
Cockayne syndrome is a genetically heterogeneous disorder, and certain types show some overlap with certain forms of xeroderma pigmentosum (XP), another disorder caused by defective DNA repair. See also Cockayne syndrome B (<a href="/entry/133540">133540</a>), caused by mutation in the ERCC6 gene (<a href="/entry/609413">609413</a>) on chromosome 10q11; XPG/CS (see <a href="/entry/278780">278780</a>), caused by mutation in the ERCC5 gene (<a href="/entry/133530">133530</a>) on chromosome 13q33; XPB/CS (see <a href="/entry/610651">610651</a>), caused by mutation in the ERCC3 gene (<a href="/entry/133510">133510</a>) on chromosome 2q21; and XPF/CS (see <a href="/entry/278760">278760</a>), caused by mutation in the ERCC4 gene (<a href="/entry/133520">133520</a>) on chromosome 16p13.</p><p><a href="#48" class="mim-tip-reference" title="Rapin, I., Lindenbaum, Y., Dickson, D. W., Kraemer, K. H., Robbins, J. H. &lt;strong&gt;Cockayne syndrome and xeroderma pigmentosum.&lt;/strong&gt; Neurology 55: 1442-1449, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11185579/&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;11185579&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=11185579[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/10.1212/wnl.55.10.1442&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="11185579">Rapin et al. (2000)</a> reviewed the clinical, pathologic, and molecular features of Cockayne syndrome, xeroderma pigmentosum, and the XP-CS complex. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11185579" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>Clinical Features</strong>
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<p>In 2 sibs of nonconsanguineous parents, <a href="#38" class="mim-tip-reference" title="Neill, C. A., Dingwall, M. M. &lt;strong&gt;A syndrome resembling progeria: a review of two cases.&lt;/strong&gt; Arch. Dis. Child. 25: 213-223, 1950.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14783428/&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;14783428&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/adc.25.123.213&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="14783428">Neill and Dingwall (1950)</a> described a progeria-like syndrome characterized by dwarfism, microcephaly, severe mental retardation, 'pepper-and-salt' chorioretinitis, and intracranial calcification. The diagnosis may have been Cockayne syndrome. Death from early atherosclerosis occurred in these sibs, as in progeria (<a href="#39" class="mim-tip-reference" title="Neill, C. A. &lt;strong&gt;Personal Communication.&lt;/strong&gt; Baltimore, Md. 1966."None>Neill, 1966</a>). Examination of the brain of the 2 sibs showed massive pericapillary calcification in the putamina, thalami and cerebellar white matter superficial to the dentate nuclei. In the larger vessels the calcification was mainly in the adventitial coat (<a href="#42" class="mim-tip-reference" title="Norman, R. M. &lt;strong&gt;Malformations of the nervous system, birth injury and diseases of early life. In: Blackwood, W.; McMenemey, W. H.; Meyer, A.; Norman, R. M.; Russell, D. S. (eds.): Greenfield&#x27;s Neuropathology.&lt;/strong&gt; Baltimore: Williams and Wilkins (pub.) 1963. P. 350."None>Norman, 1963</a>). <a href="#43" class="mim-tip-reference" title="Paddison, R. M., Moossy, J., Derbes, V. J., Kloepfer, H. W. &lt;strong&gt;Cockayne&#x27;s syndrome: a report of five new cases with biochemical, chromosomal, dermatologic, genetic and neuropathologic observations.&lt;/strong&gt; Derm. Trop. Ecol. Geogr. 15: 195-203, 1963.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14156156/&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;14156156&lt;/a&gt;]" pmid="14156156">Paddison et al. (1963)</a> reported a striking pedigree with Cockayne syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14783428+14156156" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 4 patients with Cockayne syndrome, <a href="#5" class="mim-tip-reference" title="Brumback, R. A., Yoder, F. W., Andrews, A. D., Peck, G. L., Robbins, J. H. &lt;strong&gt;Normal pressure hydrocephalus: recognition and relationship to neurological abnormalities in Cockayne&#x27;s syndrome.&lt;/strong&gt; Arch. Neurol. 35: 337-345, 1978.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/655905/&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;655905&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/archneur.1978.00500300011002&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="655905">Brumback et al. (1978)</a> noted development of the triad of normal pressure hydrocephalus: dementia, gait disturbance, and incontinence. <a href="#17" class="mim-tip-reference" title="Higginbottom, M. C., Griswold, W. R., Jones, K. L., Vasquez, M. D., Mendoza, S. A., Wilson, C. B. &lt;strong&gt;The Cockayne syndrome: an evaluation of hypertension and studies of renal pathology.&lt;/strong&gt; Pediatrics 64: 929-934, 1979.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/514720/&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;514720&lt;/a&gt;]" pmid="514720">Higginbottom et al. (1979)</a> noted that hypertension and renal disease are frequent complications of Cockayne syndrome. <a href="#2" class="mim-tip-reference" title="Bensman, A., Dardenne, M., Bach, J.-F., De Mouillac, J. V., Lasfargues, G. &lt;strong&gt;Decrease of thymic hormone serum level in Cockayne syndrome.&lt;/strong&gt; Pediat. Res. 16: 92-94, 1982.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7058086/&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;7058086&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1203/00006450-198202000-00002&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="7058086">Bensman et al. (1982)</a> found decreased or undetectable thyroid hormone in the serum of 7 cases of CS. <a href="#51" class="mim-tip-reference" title="Sato, H., Saito, T., Kurosawa, K., Ootaka, T., Furuyama, T., Yoshinaga, K. &lt;strong&gt;Renal lesions in Cockayne&#x27;s syndrome.&lt;/strong&gt; Clin. Nephrol. 29: 206-209, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3365865/&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;3365865&lt;/a&gt;]" pmid="3365865">Sato et al. (1988)</a> reviewed renal lesions. Early onset was described by <a href="#19" class="mim-tip-reference" title="Houston, C. S., Zaleski, W. A., Rozdilsky, B. &lt;strong&gt;Identical male twins and brother with Cockayne syndrome.&lt;/strong&gt; Am. J. Med. Genet. 13: 211-223, 1982.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6890311/&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;6890311&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320130212&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="6890311">Houston et al. (1982)</a> and by <a href="#35" class="mim-tip-reference" title="Moyer, D. B., Marquis, P., Shertzer, M. E., Burton, B. K. &lt;strong&gt;Cockayne syndrome with early onset of manifestations.&lt;/strong&gt; Am. J. Med. Genet. 13: 225-230, 1982.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7137233/&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;7137233&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320130213&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="7137233">Moyer et al. (1982)</a>. In studies of 3 sibs with Cockayne syndrome, <a href="#54" class="mim-tip-reference" title="Smits, M. G., ter Laak, H. J., Gabreels, F. J. M., Pinckers, A. J. L., Renier, W. O., Hombergen, G. C. J., Joosten, E. M. G., Notermans, S. L. H., Gabreels-Festen, A. A. W. M., Thijssen, H. O. M. &lt;strong&gt;Peripheral and central myelinopathy in Cockayne&#x27;s syndrome: report of 3 siblings.&lt;/strong&gt; Neuropediatrics 13: 161-167, 1982.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7133337/&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;7133337&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1055/s-2008-1059617&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="7133337">Smits et al. (1982)</a> found segmental de- and remyelination with onion-bulb formation in sural nerve biopsies and disturbed visual and brainstem auditory evoked responses indicative of CNS demyelination. They suggested that this finding supports the theory that Cockayne syndrome is a leukodystrophy, as first proposed by <a href="#34" class="mim-tip-reference" title="Moosa, A., Dubowitz, V. &lt;strong&gt;Peripheral neuropathy in Cockayne&#x27;s syndrome.&lt;/strong&gt; Arch. Dis. Child. 45: 674-677, 1970.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4320535/&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;4320535&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/adc.45.243.674&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="4320535">Moosa and Dubowitz (1970)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4320535+3365865+514720+7137233+655905+6890311+7058086+7133337" 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="#44" class="mim-tip-reference" title="Patton, M. A., Giannelli, F., Francis, A. J., Baraitser, M., Harding, B., Williams, A. J. &lt;strong&gt;Early onset Cockayne&#x27;s syndrome: case reports with neuropathological and fibroblast studies.&lt;/strong&gt; J. Med. Genet. 26: 154-159, 1989.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2468771/&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;2468771&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.26.3.154&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="2468771">Patton et al. (1989)</a> described 2 cases of early-onset Cockayne syndrome in unrelated infants. In both, striking failure of growth and developmental deterioration began around 6 months of age. Studies of cultured fibroblasts showed the characteristics typical of Cockayne syndrome, and examination of the brain in 1 patient who died at the age of 34 months showed leukodystrophy with 'tigroid' demyelinization similar to that reported in later-onset cases of Cockayne syndrome. Although the disorder resembled cerebrooculofacioskeletal syndrome (COFS; <a href="/entry/214150">214150</a>), the pathologic and fibroblast studies seemed to indicate that it was the same as Cockayne syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2468771" 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="#60" class="mim-tip-reference" title="Traboulsi, E. I., De Becker, I., Maumenee, I. H. &lt;strong&gt;Ocular findings in Cockayne syndrome.&lt;/strong&gt; Am. J. Ophthal. 114: 579-583, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1443019/&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;1443019&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0002-9394(14)74486-1&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="1443019">Traboulsi et al. (1992)</a> described the ocular findings in 8 patients varying in age from 1 to 25 years. Strabismus was present in 4 patients and cataracts in 2, while 3 had nystagmus. Visual acuity was relatively well preserved in 6 patients, including a 25-year-old man with a visual acuity of 20/60 in each eye despite advanced retinal pigmentary changes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1443019" 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 exhaustive review, <a href="#36" class="mim-tip-reference" title="Nance, M. A., Berry, S. A. &lt;strong&gt;Cockayne syndrome: review of 140 cases.&lt;/strong&gt; Am. J. Med. Genet. 42: 68-84, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1308368/&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;1308368&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320420115&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="1308368">Nance and Berry (1992)</a> commented that in contrast to other disorders of DNA repair, cancer has not been reported as a feature of classic CS. Furthermore, there appears to be no predisposition to infectious complications. The authors emphasized probable heterogeneity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1308368" 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="#28" class="mim-tip-reference" title="Mahmoud, A. A. H., Yousef, G. M., Al-Hifzi, I., Diamandis, E. P. &lt;strong&gt;Cockayne syndrome in three sisters with varying clinical presentation.&lt;/strong&gt; Am. J. Med. Genet. 111: 81-85, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12124741/&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;12124741&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.10492&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="12124741">Mahmoud et al. (2002)</a> reported 3 sisters showing clinical features and investigational findings of CS. The 12-year-old proband had typical features of CS. She had no apparent problems until the end of the first year when growth and developmental delay prompted medical evaluation. Brain CT, bone x-rays, and auditory and ophthalmologic evaluation confirmed the clinical impression of CS. Her 2 sisters were later found to have CS. The sisters varied in clinical severity as 2 of them, including the proband, had cataracts and early global delay and died early of inanition and infection. The third had a normal course until the age of 2 years when she started to show deceleration in growth and delay in development. She exhibited mental retardation but did not have cataract and was still ambulatory at the age of 10 years. The parents were not related and the father was married to 2 other wives with 11 unaffected children. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12124741" 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>Upon analysis of cerebrospinal fluid neurotransmitters in a 16-year-old Sri Lankan male with Cockayne syndrome, <a href="#13" class="mim-tip-reference" title="Ellaway, C. J., Duggins, A., Fung, V. S., Earl, J. W., Kamath, R., Parsons, P. G., Antony, J. A., North, K. N. &lt;strong&gt;Cockayne syndrome associated with low CSF 5-hydroxyindole acetic acid levels. (Letter)&lt;/strong&gt; J. Med. Genet. 37: 553-557, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10970194/&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;10970194&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.37.7.553&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="10970194">Ellaway et al. (2000)</a> found a decreased level of 5-hydroxyindole acetic acid and a normal level of homovanillic acid, with a consequent low 5-hydroxyindole acetic acid:homovanillic acid ratio. Peripheral serotonin levels, platelet serotonin, and urinary 5-hydroxyindole acetic acid levels, plasma phenylalanine levels, and dihydropteridine reductase activity were all normal. In view of these findings, the primary disorder of central serotonin metabolism was considered and the proband was treated with 5-hydroxytryptophan. There was no clinical improvement over a period of 2 years, but his cognitive function, tremor, and gait did not deteriorate. <a href="#13" class="mim-tip-reference" title="Ellaway, C. J., Duggins, A., Fung, V. S., Earl, J. W., Kamath, R., Parsons, P. G., Antony, J. A., North, K. N. &lt;strong&gt;Cockayne syndrome associated with low CSF 5-hydroxyindole acetic acid levels. (Letter)&lt;/strong&gt; J. Med. Genet. 37: 553-557, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10970194/&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;10970194&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.37.7.553&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="10970194">Ellaway et al. (2000)</a> also measured resting energy expenditure and found this to be 75% of the predicted value; they suggested that this situation in Cockayne syndrome might be similar to that of anorexia nervosa, where resting energy expenditure is reduced but normalizes upon refeeding, with concomitant increases in body weight. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10970194" 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="#63" class="mim-tip-reference" title="Wilson, B. T., Stark, Z., Sutton, R. E., Danda, S., Ekbote, A. V., Elsayed, S. M., Gibson, L., Goodship, J. A., Jackson, A. P., Keng, W. T., King, M. D., McCann, E., Motojima, T., Murray, J. E., Omata, T., Pilz, D., Pope, K., Sugita, K., White, S. M., Wilson, I. J. &lt;strong&gt;The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care.&lt;/strong&gt; Genet. Med. 18: 483-493, 2016.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/26204423/&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;26204423&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=26204423[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/gim.2015.110&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="26204423">Wilson et al. (2016)</a> reviewed the features and made recommendations regarding the evaluation of 102 patients, 44 females and 58 males, with Cockayne syndrome A or B. The mean age of recruited individuals was 11.5 years, with a range of 3 months to 39 years. All patients were microcephalic and had growth failure leading to proportionate short stature. At the time of the analysis, 28 individuals had died, with a mean age of death of 8.4 years with a range of 17 months to 30 years. The most prevalent features were cold extremities and abnormal brain imaging present in over 80% of individuals, followed by weakness, hearing loss, clinical photosensitivity, tremor, joint contractures, abnormal liver function tests, and abnormal bowel movements, present in over 60% but less than 80%. Cataracts were present in about 50% and were likely to be seen by age 4 years. The majority of patients with abnormal brain imaging had calcifications and white matter changes, with a minority having cerebellar corpus callosum or ventriculomegaly abnormalities. Lower extremity joint contractures were more common than upper extremity ones. Cataracts were more likely to be bilateral. Most patients had low-normal birth growth parameters but rapidly fell off the growth charts postnatally. The authors noted that early development may appear to be normal and suggested that developmental delay may be a poor discriminating factor for early diagnosis. The authors suggested that Cockayne syndrome should be suspected in any child with postnatal growth failure, microcephaly, and any 2 of the following: persistently cold hands and feet, bilateral hearing loss, dermal photosensitivity, intention tremor, joint contractures, progressive loss of body fat, cataracts, or typical facial features. Using these criteria increased clinical recognition of Cockayne syndrome in their cohort of 102 patients to around 90%. The authors cautioned that metronidazole causes acute hepatic failure in Cockayne syndrome, which may be fatal and should be avoided in anyone with a suspected diagnosis of Cockayne syndrome. The authors noted that the phenotypic discordance between sibs is not unusual. The only identified association with younger age at death in Cockayne syndrome was with early onset of cataracts (less than 3 years of age). This association was statistically significant (p = 1.36 x 10(-6)); at 5 years, survival is about 60% for those patients with early cataracts and 95% for those without. <a href="#63" class="mim-tip-reference" title="Wilson, B. T., Stark, Z., Sutton, R. E., Danda, S., Ekbote, A. V., Elsayed, S. M., Gibson, L., Goodship, J. A., Jackson, A. P., Keng, W. T., King, M. D., McCann, E., Motojima, T., Murray, J. E., Omata, T., Pilz, D., Pope, K., Sugita, K., White, S. M., Wilson, I. J. &lt;strong&gt;The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care.&lt;/strong&gt; Genet. Med. 18: 483-493, 2016.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/26204423/&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;26204423&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=26204423[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/gim.2015.110&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="26204423">Wilson et al. (2016)</a> also found a significant association between early cataracts and the time to development of hearing loss and of contractures, but not of tremor or loss of subcutaneous fat. Degree of photosensitivity was not associated with survival or time until the onset of tremor. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26204423" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The transmission pattern of CSA in the families reported by <a href="#3" class="mim-tip-reference" title="Bertola, D. R., Cao, H., Albano, L. M. J., Oliveira, D. P., Kok, F., Marques-Dias, M. J., Kim, C. A., Hegele, R. A. &lt;strong&gt;Cockayne syndrome type A: novel mutations in eight typical patients.&lt;/strong&gt; J. Hum. Genet. 51: 701-705, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16865293/&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;16865293&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s10038-006-0011-7&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="16865293">Bertola et al. (2006)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16865293" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#52" class="mim-tip-reference" title="Schmickel, R. D., Chu, E. H. Y., Trosko, J. E., Chang, C. C. &lt;strong&gt;Cockayne syndrome: a cellular sensitivity to ultraviolet light.&lt;/strong&gt; Pediatrics 60: 135-139, 1977.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/887325/&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;887325&lt;/a&gt;]" pmid="887325">Schmickel et al. (1977)</a> showed that fibroblasts from 2 unrelated children with Cockayne syndrome exhibited increased sensitivity to UV irradiation, but not to X-irradiation, as measured by colony-forming ability. In addition, both cell lines showed normal rates of removal of thymidine dimers. <a href="#1" class="mim-tip-reference" title="Andrews, A. D., Barrett, S. F., Yoder, F. W., Robbins, J. H. &lt;strong&gt;Cockayne&#x27;s syndrome fibroblasts have increased sensitivity to ultraviolet light but normal rates of unscheduled DNA synthesis.&lt;/strong&gt; J. Invest. Derm. 70: 237-239, 1978.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/641373/&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;641373&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/1523-1747.ep12541383&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="641373">Andrews et al. (1978)</a> found that CS fibroblasts had markedly decreased post-UV light colony-forming ability compared to controls. However, the patients' fibroblasts had normal rates of UV-induced unscheduled DNA synthesis, indicating that the defect in these cells was not due to abnormal DNA excision repair. The findings differentiated CS from xeroderma pigmentosum, in which DNA excision repair is deficient. <a href="#18" class="mim-tip-reference" title="Hoar, D. I., Waghorne, C. &lt;strong&gt;DNA repair in Cockayne syndrome.&lt;/strong&gt; Am. J. Hum. Genet. 30: 590-601, 1978.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/747187/&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;747187&lt;/a&gt;]" pmid="747187">Hoar and Waghorne (1978)</a> found normal UV-induced unscheduled DNA synthesis and normal post-replication repair in CS cells. <a href="#32" class="mim-tip-reference" title="Mayne, L. V., Lehmann, A. R. &lt;strong&gt;Failure of RNA synthesis to recover after UV irradiation: an early defect in cells from individuals with Cockayne&#x27;s syndrome and xeroderma pigmentosum.&lt;/strong&gt; Cancer Res. 42: 1473-1478, 1982.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6174225/&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;6174225&lt;/a&gt;]" pmid="6174225">Mayne and Lehmann (1982)</a> showed that cells from patients with Cockayne syndrome failed to recover RNA synthesis after UV irradiation despite normal excision and daughter-strand repair pathways. The findings indicated that recovery of RNA synthesis is an important early response to UV irradiation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=887325+641373+747187+6174225" 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="#53" class="mim-tip-reference" title="Schweiger, M., Auer, B., Burtscher, H. J., Hirsch-Kauffmann, M., Klocker, H., Schneider, R. &lt;strong&gt;DNA repair in human cells: biochemistry of the hereditary diseases Fanconi&#x27;s anaemia and Cockayne syndrome.&lt;/strong&gt; Europ. J. Biochem. 165: 235-242, 1987.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3109898/&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;3109898&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1432-1033.1987.tb11433.x&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="3109898">Schweiger et al. (1987)</a> suggested that the defect in DNA repair in Cockayne syndrome is located beyond incision, exonuclease reaction, and DNA synthesis, and that it may involve a defect in DNA ligase. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3109898" 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="#62" class="mim-tip-reference" title="Venema, J., Mullenders, L. H. F., Natarajan, A. T., van Zeeland, A. A., Mayne, L. V. &lt;strong&gt;The genetic defect in Cockayne syndrome is associated with a defect in repair of UV-induced DNA damage in transcriptionally active DNA.&lt;/strong&gt; Proc. Nat. Acad. Sci. 87: 4707-4711, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2352945/&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;2352945&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1073/pnas.87.12.4707&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="2352945">Venema et al. (1990)</a> demonstrated a defect in preferential DNA repair of transcriptionally active DNA in Cockayne syndrome. Cells from normal controls repaired UV-induced pyrimidine dimers at a faster rate in transcriptionally active DNA when compared to a nontranscribed locus or to the genome overall. In contrast, cells from CS patients were unable to repair transcriptionally active DNA as rapidly and efficiently as normal cells, although repair occurred at a slower rate similar to that of untranscribed DNA. <a href="#62" class="mim-tip-reference" title="Venema, J., Mullenders, L. H. F., Natarajan, A. T., van Zeeland, A. A., Mayne, L. V. &lt;strong&gt;The genetic defect in Cockayne syndrome is associated with a defect in repair of UV-induced DNA damage in transcriptionally active DNA.&lt;/strong&gt; Proc. Nat. Acad. Sci. 87: 4707-4711, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2352945/&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;2352945&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1073/pnas.87.12.4707&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="2352945">Venema et al. (1990)</a> concluded that CS fibroblasts have lost the preferential repair of active genes but are proficient in overall genome repair. <a href="#62" class="mim-tip-reference" title="Venema, J., Mullenders, L. H. F., Natarajan, A. T., van Zeeland, A. A., Mayne, L. V. &lt;strong&gt;The genetic defect in Cockayne syndrome is associated with a defect in repair of UV-induced DNA damage in transcriptionally active DNA.&lt;/strong&gt; Proc. Nat. Acad. Sci. 87: 4707-4711, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2352945/&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;2352945&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1073/pnas.87.12.4707&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="2352945">Venema et al. (1990)</a> suggested that the results help to elucidate the pleiotropic clinical effects associated with disorders having defects in the repair of DNA damage. In particular, neurodegeneration appeared to be associated with the loss of preferential repair of active genes and not simply correlated with reduced levels of overall repair. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2352945" 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="#24" class="mim-tip-reference" title="Lehmann, A. R., Thompson, A. F., Harcourt, S. A., Stefanini, M., Norris, P. G. &lt;strong&gt;Cockayne&#x27;s syndrome: correlation of clinical features with cellular sensitivity of RNA synthesis to UV irradiation.&lt;/strong&gt; J. Med. Genet. 30: 679-682, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7692050/&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;7692050&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.30.8.679&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="7692050">Lehmann et al. (1993)</a> found failure of RNA synthesis to recover to normal rates after UV irradiation in cells from 29 of 52 patients for whom the clinical diagnosis of Cockayne syndrome was considered a possibility; the other 23 had a normal response. From review of the clinical details, they concluded that, apart from the cardinal features of dwarfism and mental retardation, sun sensitivity correlated best with a positive cellular diagnosis. Pigmentary retinopathy, gait defects, and dental caries were also good indicators, although several patients with a positive cellular diagnosis did not have these features. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7692050" 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="#61" class="mim-tip-reference" title="van Oosterwijk, M. F., Versteeg, A., Filon, R., van Zeeland, A. A., Mullenders, L. H. F. &lt;strong&gt;The sensitivity of Cockayne&#x27;s syndrome cells to DNA-damaging agents is not due to defective transcription-coupled repair of active genes.&lt;/strong&gt; Molec. Cell. Biol. 16: 4436-4444, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8754844/&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;8754844&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1128/MCB.16.8.4436&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="8754844">Van Oosterwijk et al. (1996)</a> examined the sensitivity of CSA and CSB fibroblast cells to the DNA damaging agent N-acetoxy-2-acetylaminofluorene (NA-AAF), which mimics UV irradiation. They found that although CS cells are 3-fold more sensitive to NA-AAF than are normal cells and are unable to recover the ability to synthesize RNA, this sensitivity is not due to defective transcription-coupled repair of active genes. They concluded that a transcription defect is the underlying cause of the hypersensitivity and prolonged repressed RNA synthesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8754844" 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>Complementation Groups A and B</em></strong></p><p>
<a href="#58" class="mim-tip-reference" title="Tanaka, K., Kawai, K., Kumahara, Y., Ikenaga, M., Okada, Y. &lt;strong&gt;Genetic complementation groups in Cockayne syndrome.&lt;/strong&gt; Somat. Cell Genet. 7: 445-455, 1981.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7280930/&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;7280930&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF01542989&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="7280930">Tanaka et al. (1981)</a> used cell fusion techniques to demonstrate that there are at least 2 complementation groups in Cockayne syndrome. Fusion between certain cell lines allowed recovery of a nearly normal rate of semiconservative DNA synthesis after UV irradiation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7280930" 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="#25" class="mim-tip-reference" title="Lehmann, A. R. &lt;strong&gt;Three complementation groups in Cockayne syndrome.&lt;/strong&gt; Mutat. Res. 106: 347-356, 1982.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6185841/&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;6185841&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0027-5107(82)90115-4&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6185841">Lehmann (1982)</a> performed cell fusion studies on cultured cells from 11 patients with Cockayne syndrome. The 11 cell lines were assigned to 3 complementation groups: 2 to group A, 8 to group B, and 1 to group C. The group C patient was thought to have xeroderma pigmentosum also and was the sole known representative of the XP complementation group B (<a href="/entry/133510">133510</a>). The patient had clinical as well as biologic features of both disorders. See <a href="/entry/610651">610651</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6185841" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#20" class="mim-tip-reference" title="Jaeken, J., Klocker, H., Schwaiger, H., Bellmann, R., Hirsch-Kauffmann, M., Schweiger, M. &lt;strong&gt;Clinical and biochemical studies in three patients with severe early infantile Cockayne syndrome.&lt;/strong&gt; Hum. Genet. 83: 339-346, 1989.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2478446/&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;2478446&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00291378&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="2478446">Jaeken et al. (1989)</a> studied 3 patients with unusually severe CS. Unlike classic CS, the disorder had its onset in the first weeks of life and led to unusually early death. Fibroblasts from 2 of the patients showed a complete defect in the repair of UV-induced thymine dimer lesions; the fibroblasts were unable to remove thymine dimer lesions from their DNA, had a severe reduction of RNA synthesis rates after UV irradiation, and showed no reactivation of a UV-inactivated indicator gene and no DNA recondensation after UV irradiation. DNA repair investigated in these 2 strains resembled that of xeroderma pigmentosum cells of complementation group A (<a href="/entry/278700">278700</a>). In contrast, fibroblasts from the third patient showed the same in vitro repair characteristics as classic CS cells. The findings in the 2 patients with a complete defect of thymine dimer removal supported the suggestion of <a href="#30" class="mim-tip-reference" title="Marshall, R. R., Arlett, C. F., Harcourt, S. A., Broughton, B. A. &lt;strong&gt;Increased sensitivity of cell strains from Cockayne&#x27;s syndrome to sister-chromatid-exchange induction and cell killing by UV light.&lt;/strong&gt; Mutat. Res. 69: 107-112, 1980.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7360141/&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;7360141&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0027-5107(80)90180-3&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="7360141">Marshall et al. (1980)</a> that there are transitional forms between CS and XP, since in the various forms of the latter condition (with the exception of XP variant), removal of pyrimidine dimer lesions is the underlying defect. Preliminary complementation experiments indicated that the 3 patients belonged to CS complementation group A. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2478446+7360141" 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="#55" class="mim-tip-reference" title="Stefanini, M., Fawcett, H., Botta, E., Nardo, T., Lehmann, A. R. &lt;strong&gt;Genetic analysis of twenty-two patients with Cockayne syndrome.&lt;/strong&gt; Hum. Genet. 97: 418-423, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8834235/&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;8834235&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF02267059&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="8834235">Stefanini et al. (1996)</a> analyzed cell cultures from 22 Cockayne syndrome donors from different countries and different racial groups. In particular, they tested the cultures for complementation, which they defined as the restoration of normal RNA synthesis rates in UV-irradiated heterokaryons. Cultures from 5 patients were assigned to complementation group A and the remaining 17 were assigned to complementation group B. The authors detected no distinctions (racial, clinical, or cellular) between the 2 complementation groups. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8834235" 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="diagnosis" class="mim-anchor"></a>
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<p><strong><em>Prenatal Diagnosis</em></strong></p><p>
<a href="#57" class="mim-tip-reference" title="Sugita, T., Ikenaga, M., Suehara, N., Kozuka, T., Furuyama, J., Yabuuchi, H. &lt;strong&gt;Prenatal diagnosis of Cockayne syndrome using assay of colony-forming ability in ultraviolet light irradiated cells.&lt;/strong&gt; Clin. Genet. 22: 137-142, 1982.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7151298/&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;7151298&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1982.tb01424.x&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="7151298">Sugita et al. (1982)</a> made the prenatal diagnosis of Cockayne syndrome on the basis of sensitivity of amniocytes to ultraviolet light. Colony-forming ability of the cells from the affected fetus was reduced after UV exposure as compared with normals. <a href="#23" class="mim-tip-reference" title="Lehmann, A. R., Francis, A. J., Giannelli, F. &lt;strong&gt;Prenatal diagnosis of Cockayne&#x27;s syndrome.&lt;/strong&gt; Lancet 325: 486-488, 1985. Note: Originally Volume I.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2579301/&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;2579301&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0140-6736(85)92088-4&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2579301">Lehmann et al. (1985)</a> demonstrated the feasibility of prenatal diagnosis by study of RNA synthesis in cultured amniotic cells after irradiation with ultraviolet light. Not only are cultured cells from CS patients hypersensitive to the lethal effects of UV and some chemical carcinogens, but also the normal recovery in DNA and RNA synthesis after UV exposure does not occur (<a href="#32" class="mim-tip-reference" title="Mayne, L. V., Lehmann, A. R. &lt;strong&gt;Failure of RNA synthesis to recover after UV irradiation: an early defect in cells from individuals with Cockayne&#x27;s syndrome and xeroderma pigmentosum.&lt;/strong&gt; Cancer Res. 42: 1473-1478, 1982.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6174225/&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;6174225&lt;/a&gt;]" pmid="6174225">Mayne and Lehmann, 1982</a>). A prenatal test based on this observation is simple and rapid and its outcome is unambiguous. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6174225+7151298+2579301" 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="clinicalManagement" class="mim-anchor"></a>
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<strong>Clinical Management</strong>
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<p><a href="#37" class="mim-tip-reference" title="Neilan, E. G., Delgado, M. R., Donovan, M. A., Kim, S. Y., Jou, R. L., Wu, B.-L., Kang, P. B. &lt;strong&gt;Response of motor complications in Cockayne syndrome to carbidopa-levodopa.&lt;/strong&gt; Arch. Neurol. 65: 1117-1121, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18695064/&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;18695064&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/archneur.65.8.1117&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="18695064">Neilan et al. (2008)</a> reported 3 adolescent patients with Cockayne syndrome who showed a clear reduction in tremors and improvement in fine hand movements, including handwriting, following treatment with carbidopa-levodopa. The findings implicated the dopaminergic pathway in the pathogenesis of this disorder. One of the patients ('patient 3') described by <a href="#37" class="mim-tip-reference" title="Neilan, E. G., Delgado, M. R., Donovan, M. A., Kim, S. Y., Jou, R. L., Wu, B.-L., Kang, P. B. &lt;strong&gt;Response of motor complications in Cockayne syndrome to carbidopa-levodopa.&lt;/strong&gt; Arch. Neurol. 65: 1117-1121, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18695064/&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;18695064&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/archneur.65.8.1117&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="18695064">Neilan et al. (2008)</a> was later found to have a different disorder (see <a href="/entry/616541">616541</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18695064" 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><a href="#16" class="mim-tip-reference" title="Henning, K. A., Li, L., Iyer, N., McDaniel, L. D., Reagan, M. S., Legerski, R., Schultz, R. A., Stefanini, M., Lehmann, A. R., Mayne, L. V., Friedberg, E. C. &lt;strong&gt;The Cockayne syndrome group A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA polymerase II TFIIH.&lt;/strong&gt; Cell 82: 555-564, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7664335/&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;7664335&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0092-8674(95)90028-4&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7664335">Henning et al. (1995)</a> identified mutations in the ERCC8 gene in CSA cDNAs of all CSA cell lines examined, including an identical mutation in 2 CSA sibs (<a href="/entry/609412#0001">609412.0001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7664335" 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 cell line from an 11-year-old girl with photophobia, dwarfism, mental retardation, cataracts, retinopathy, and optic atrophy, <a href="#6" class="mim-tip-reference" title="Cao, H., Williams, C., Carter, M., Hegele, R. A. &lt;strong&gt;CKN1 (MIM 216400): mutations in Cockayne syndrome type A and a new common polymorphism.&lt;/strong&gt; J. Hum. Genet. 49: 61-63, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14661080/&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;14661080&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s10038-003-0107-2&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="14661080">Cao et al. (2004)</a> identified compound heterozygosity for a nonsense mutation (E13X; <a href="/entry/609412#0003">609412.0003</a>) and a missense mutation (A205P; <a href="/entry/609412#0005">609412.0005</a>) in the ERCC8 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14661080" 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 cell line from a patient with CSA, <a href="#49" class="mim-tip-reference" title="Ridley, A. J., Colley, J., Wynford-Thomas, D., Jones, C. J. &lt;strong&gt;Characterisation of novel mutations in Cockayne syndrome type A and xeroderma pigmentosum group C subjects.&lt;/strong&gt; J. Hum. Genet. 50: 151-154, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15744458/&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;15744458&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s10038-004-0228-2&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="15744458">Ridley et al. (2005)</a> identified compound heterozygosity for an E13X mutation and a novel missense mutation (A160V; <a href="/entry/609412#0004">609412.0004</a>) in the ERCC8 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15744458" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Bertola, D. R., Cao, H., Albano, L. M. J., Oliveira, D. P., Kok, F., Marques-Dias, M. J., Kim, C. A., Hegele, R. A. &lt;strong&gt;Cockayne syndrome type A: novel mutations in eight typical patients.&lt;/strong&gt; J. Hum. Genet. 51: 701-705, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16865293/&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;16865293&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s10038-006-0011-7&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="16865293">Bertola et al. (2006)</a> analyzed the ERCC8 gene in 8 patients from 6 Brazilian families with typical CSA and identified homozygosity or compound heterozygosity for ERCC8 mutations in all of them. The authors stated that there was no obvious genotype/phenotype correlation across the mutation spectrum. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16865293" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#21" class="mim-tip-reference" title="Khayat, M., Hardouf, H., Zlotogora, J., Shalev, S. A. &lt;strong&gt;High carriers frequency of an apparently ancient founder mutation p.Tyr322X in the ERCC8 gene responsible for Cockayne syndrome among Christian Arabs in Northern Israel.&lt;/strong&gt; Am. J. Med. Genet. 152A: 3091-3094, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21108394/&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;21108394&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.33746&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="21108394">Khayat et al. (2010)</a> analyzed the Y322X ERCC8 mutation (<a href="/entry/609412#0002">609412.0002</a>) in the Arab Christian population of northern Israel and found a carrier frequency of 6.79. Haplotype analysis as well as the high carrier frequency suggested that Y322X is an ancient founder mutation that may have originated in the Christian Lebanese community. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21108394" 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="history" class="mim-anchor"></a>
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<strong>History</strong>
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<p>Edward Alfred Cockayne (1880-1956) was a London physician who concentrated on diseases of children, particularly hereditary diseases. His 'Inherited Abnormalities of the Skin and its Appendages,' published in 1933, was an extensive collation of pedigrees from the literature. Forty years later, <a href="#33" class="mim-tip-reference" title="McKusick, V. A. &lt;strong&gt;Genetics and dermatology, or if I were to rewrite Cockayne&#x27;s Inherited Abnormalities of the Skin.&lt;/strong&gt; J. Invest. Derm. 60: 343-359, 1973.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4575893/&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;4575893&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/1523-1747.ep12702125&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="4575893">McKusick (1973)</a> reviewed the subject of 'genetics and dermatology' under the subtitle 'If I were to rewrite Cockayne's Inherited Abnormalities of the Skin.' <a href="#33" class="mim-tip-reference" title="McKusick, V. A. &lt;strong&gt;Genetics and dermatology, or if I were to rewrite Cockayne&#x27;s Inherited Abnormalities of the Skin.&lt;/strong&gt; J. Invest. Derm. 60: 343-359, 1973.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4575893/&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;4575893&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/1523-1747.ep12702125&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="4575893">McKusick (1973)</a> also provided biographic information on Cockayne, including his important contributions to entomology. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4575893" 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="Czeizel, A. E., Marchalko, M. &lt;strong&gt;Cockayne syndrome type III with high intelligence.&lt;/strong&gt; Clin. Genet. 48: 331-333, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8835332/&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;8835332&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1995.tb04121.x&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="8835332">Czeizel and Marchalko (1995)</a> used the designation Cockayne syndrome type III for the disorder in a teenaged girl with characteristic somatic manifestations of Cockayne syndrome, particularly a cachectic phenotype. She was not dwarfed (stature was 158 cm) but weighed only 30 kg. Her appearance was normal at birth and during the first postnatal years. Loss of adipose tissue occurred after a third year, resulting in thin, atrophic skin, unusual facies with a slender nose and moderately sunken eyes, and a precociously senile appearance. Bilateral impaired hearing of nerve type occurred from 13 years of age with progression. Ocular abnormalities, starting with bilateral corneal infiltrates and band keratopathy, were noted from the age of 14. Menarche occurred at age 13 years with regular menstrual cycles following. The Wechsler test showed an IQ of 128. Werner syndrome (<a href="/entry/277700">277700</a>) was excluded on the basis of lack of scleroderma-like skin changes. Lack of cataract and the presence of sensitivity to sunlight and bilateral impaired hearing were also noted. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8835332" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>See Also:</strong>
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<a href="#Bregman1996" class="mim-tip-reference" title="Bregman, D. B., Halaban, R., van Gool, A. J., Henning, K. A., Friedberg, E. C., Warren, S. L. &lt;strong&gt;UV-induced ubiquitination of RNA polymerase II: a novel modification deficient in Cockayne syndrome cells.&lt;/strong&gt; Proc. Nat. Acad. Sci. 93: 11586-11590, 1996.">Bregman et al. (1996)</a>; <a href="#Cleaver1999" class="mim-tip-reference" title="Cleaver, J. E., Thompson, L. H., Richardson, A. S., States, J. C. &lt;strong&gt;A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy.&lt;/strong&gt; Hum. Mutat. 14: 9-22, 1999.">Cleaver et al. (1999)</a>; <a href="#Cockayne1933" class="mim-tip-reference" title="Cockayne, E. A. &lt;strong&gt;Inherited Abnormalities of the Skin and its Appendages.&lt;/strong&gt; London: Oxford Univ. Press (pub.) 1933.">Cockayne (1933)</a>; <a href="#Cotton1970" class="mim-tip-reference" title="Cotton, R. B., Keats, T. E., McCoy, E. E. &lt;strong&gt;Abnormal blood glucose regulation in Cockayne&#x27;s syndrome.&lt;/strong&gt; Pediatrics 46: 54-60, 1970.">Cotton
et al. (1970)</a>; <a href="#Cunningham1978" class="mim-tip-reference" title="Cunningham, M., Godfrey, S., Moffat, W. M. V. &lt;strong&gt;Cockayne&#x27;s syndrome and emphysema.&lt;/strong&gt; Arch. Dis. Child. 53: 722-725, 1978.">Cunningham et al. (1978)</a>; <a href="#Deschavanne1981" class="mim-tip-reference" title="Deschavanne, P. J., Diatloff-Zito, C., Macieira-Coelho, A., Malaise, E.-P. &lt;strong&gt;Unusual sensitivity of two Cockayne&#x27;s syndrome cell strains to both UV and gamma irradiation.&lt;/strong&gt; Mutat. Res. 91: 403-406, 1981.">Deschavanne et al. (1981)</a>; <a href="#Fujimoto1969" class="mim-tip-reference" title="Fujimoto, W. Y., Greene, M. L., Seegmiller, J. E. &lt;strong&gt;Cockayne&#x27;s syndrome: report of a case with hyperlipoproteinemia, hyperinsulinemia, renal disease, and normal growth hormone.&lt;/strong&gt; J. Pediat. 75: 881-884, 1969.">Fujimoto et al. (1969)</a>; <a href="#Gandolfi1984" class="mim-tip-reference" title="Gandolfi, A., Horoupian, D., Rapin, I., DeTeresa, R., Hyams, V. &lt;strong&gt;Deafness in Cockayne&#x27;s syndrome: morphological, morphometric, and quantitative study of the auditory pathway.&lt;/strong&gt; Ann. Neurol. 15: 135-143, 1984.">Gandolfi et al. (1984)</a>; <a href="#Lanning1970" class="mim-tip-reference" title="Lanning, M., Simila, S. &lt;strong&gt;Cockayne&#x27;s syndrome: report of a case with normal intelligence.&lt;/strong&gt; Z. Kinderheilk. 109: 70-75, 1970.">Lanning and Simila
(1970)</a>; <a href="#Macdonald1960" class="mim-tip-reference" title="Macdonald, W. B., Fitch, K. D., Lewis, I. C. &lt;strong&gt;Cockayne&#x27;s syndrome: a heredo-familial disorder of growth and development.&lt;/strong&gt; Pediatrics 25: 997-1007, 1960.">Macdonald et al. (1960)</a>; <a href="#Mayne1984" class="mim-tip-reference" title="Mayne, L. V., Broughton, B. C., Lehmann, A. R. &lt;strong&gt;The ultraviolet sensitivity of Cockayne syndrome cells is not a consequence of reduced cellular NAD content.&lt;/strong&gt; Am. J. Hum. Genet. 36: 311-319, 1984.">Mayne et al. (1984)</a>; <a href="#Nishio1988" class="mim-tip-reference" title="Nishio, H., Kodama, S., Matsuo, T., Ichihashi, M., Ito, H., Fujiwara, Y. &lt;strong&gt;Cockayne syndrome: magnetic resonance images of the brain in a severe form with early onset.&lt;/strong&gt; J. Inherit. Metab. Dis. 11: 88-102, 1988.">Nishio et al.
(1988)</a>; <a href="#Norman1966" class="mim-tip-reference" title="Norman, R. M., Tingey, A. H. &lt;strong&gt;Syndrome of micrencephaly, strio-cerebellar calcifications, and leucodystrophy.&lt;/strong&gt; J. Neurol. Neurosurg. Psychiat. 29: 157-163, 1966.">Norman and Tingey (1966)</a>; <a href="#Pearce1972" class="mim-tip-reference" title="Pearce, W. G. &lt;strong&gt;Ocular and genetic features of Cockayne&#x27;s syndrome.&lt;/strong&gt; Canad. J. Ophthal. 7: 435-444, 1972.">Pearce (1972)</a>; <a href="#Pfeiffer1973" class="mim-tip-reference" title="Pfeiffer, R. A., Bachmann, K. D. &lt;strong&gt;An atypical case of Cockayne&#x27;s syndrome.&lt;/strong&gt; Clin. Genet. 4: 28-32, 1973.">Pfeiffer and
Bachmann (1973)</a>; <a href="#Proops1981" class="mim-tip-reference" title="Proops, R., Taylor, A. M. R., Insley, J. &lt;strong&gt;A clinical study of a family with Cockayne&#x27;s syndrome.&lt;/strong&gt; J. Med. Genet. 18: 288-293, 1981.">Proops et al. (1981)</a>; <a href="#Rowlatt1969" class="mim-tip-reference" title="Rowlatt, U. &lt;strong&gt;Cockayne&#x27;s syndrome: report of case with necropsy findings.&lt;/strong&gt; Acta Neuropath. 14: 52-61, 1969.">Rowlatt (1969)</a>; <a href="#Sugarman1977" class="mim-tip-reference" title="Sugarman, G. I., Landing, B. H., Reed, W. B. &lt;strong&gt;Cockayne syndrome: clinical study of two patients and neuropathologic findings in one.&lt;/strong&gt; Clin. Pediat. 16: 225-232, 1977.">Sugarman et
al. (1977)</a>; <a href="#Tanaka1985" class="mim-tip-reference" title="Tanaka, K., Kawai, K., Kumahara, Y., Uchida, T., Okada, Y. &lt;strong&gt;Establishment of Cockayne syndrome fibroblast cell line belonging to complementation group B by SV40 transformation.&lt;/strong&gt; Jpn. J. Hum. Genet. 30: 21-29, 1985.">Tanaka et al. (1985)</a>
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<a id="Andrews1978" class="mim-anchor"></a>
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Andrews, A. D., Barrett, S. F., Yoder, F. W., Robbins, J. H.
<strong>Cockayne's syndrome fibroblasts have increased sensitivity to ultraviolet light but normal rates of unscheduled DNA synthesis.</strong>
J. Invest. Derm. 70: 237-239, 1978.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/641373/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">641373</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=641373" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/1523-1747.ep12541383" target="_blank">Full Text</a>]
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Bensman, A., Dardenne, M., Bach, J.-F., De Mouillac, J. V., Lasfargues, G.
<strong>Decrease of thymic hormone serum level in Cockayne syndrome.</strong>
Pediat. Res. 16: 92-94, 1982.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7058086/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7058086</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7058086" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1203/00006450-198202000-00002" target="_blank">Full Text</a>]
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Bertola, D. R., Cao, H., Albano, L. M. J., Oliveira, D. P., Kok, F., Marques-Dias, M. J., Kim, C. A., Hegele, R. A.
<strong>Cockayne syndrome type A: novel mutations in eight typical patients.</strong>
J. Hum. Genet. 51: 701-705, 2006.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16865293/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16865293</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16865293" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/s10038-006-0011-7" target="_blank">Full Text</a>]
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<a id="Bregman1996" class="mim-anchor"></a>
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Bregman, D. B., Halaban, R., van Gool, A. J., Henning, K. A., Friedberg, E. C., Warren, S. L.
<strong>UV-induced ubiquitination of RNA polymerase II: a novel modification deficient in Cockayne syndrome cells.</strong>
Proc. Nat. Acad. Sci. 93: 11586-11590, 1996.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8876179/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8876179</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8876179" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1073/pnas.93.21.11586" target="_blank">Full Text</a>]
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<a id="Brumback1978" class="mim-anchor"></a>
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Brumback, R. A., Yoder, F. W., Andrews, A. D., Peck, G. L., Robbins, J. H.
<strong>Normal pressure hydrocephalus: recognition and relationship to neurological abnormalities in Cockayne's syndrome.</strong>
Arch. Neurol. 35: 337-345, 1978.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/655905/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">655905</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=655905" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1001/archneur.1978.00500300011002" target="_blank">Full Text</a>]
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<a id="Cao2004" class="mim-anchor"></a>
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Cao, H., Williams, C., Carter, M., Hegele, R. A.
<strong>CKN1 (MIM 216400): mutations in Cockayne syndrome type A and a new common polymorphism.</strong>
J. Hum. Genet. 49: 61-63, 2004.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14661080/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14661080</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14661080" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/s10038-003-0107-2" target="_blank">Full Text</a>]
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<a id="Cleaver1999" class="mim-anchor"></a>
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Cleaver, J. E., Thompson, L. H., Richardson, A. S., States, J. C.
<strong>A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy.</strong>
Hum. Mutat. 14: 9-22, 1999.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10447254/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10447254</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10447254" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/(SICI)1098-1004(1999)14:1&lt;9::AID-HUMU2&gt;3.0.CO;2-6" target="_blank">Full Text</a>]
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<a id="Cockayne1933" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Cockayne, E. A.
<strong>Inherited Abnormalities of the Skin and its Appendages.</strong>
London: Oxford Univ. Press (pub.) 1933.
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<a id="Cotton1970" class="mim-anchor"></a>
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<p class="mim-text-font">
Cotton, R. B., Keats, T. E., McCoy, E. E.
<strong>Abnormal blood glucose regulation in Cockayne's syndrome.</strong>
Pediatrics 46: 54-60, 1970.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5450330/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5450330</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5450330" 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="Cunningham1978" class="mim-anchor"></a>
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Cunningham, M., Godfrey, S., Moffat, W. M. V.
<strong>Cockayne's syndrome and emphysema.</strong>
Arch. Dis. Child. 53: 722-725, 1978.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/309750/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">309750</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=309750" 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/adc.53.9.722" target="_blank">Full Text</a>]
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<a id="Czeizel1995" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Czeizel, A. E., Marchalko, M.
<strong>Cockayne syndrome type III with high intelligence.</strong>
Clin. Genet. 48: 331-333, 1995.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8835332/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8835332</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8835332" 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.1399-0004.1995.tb04121.x" target="_blank">Full Text</a>]
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<a id="Deschavanne1981" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Deschavanne, P. J., Diatloff-Zito, C., Macieira-Coelho, A., Malaise, E.-P.
<strong>Unusual sensitivity of two Cockayne's syndrome cell strains to both UV and gamma irradiation.</strong>
Mutat. Res. 91: 403-406, 1981.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7266580/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7266580</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7266580" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/0165-7992(81)90022-1" target="_blank">Full Text</a>]
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<a id="Ellaway2000" class="mim-anchor"></a>
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Ellaway, C. J., Duggins, A., Fung, V. S., Earl, J. W., Kamath, R., Parsons, P. G., Antony, J. A., North, K. N.
<strong>Cockayne syndrome associated with low CSF 5-hydroxyindole acetic acid levels. (Letter)</strong>
J. Med. Genet. 37: 553-557, 2000.
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[<a href="https://doi.org/10.1136/jmg.37.7.553" target="_blank">Full Text</a>]
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Fujimoto, W. Y., Greene, M. L., Seegmiller, J. E.
<strong>Cockayne's syndrome: report of a case with hyperlipoproteinemia, hyperinsulinemia, renal disease, and normal growth hormone.</strong>
J. Pediat. 75: 881-884, 1969.
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[<a href="https://doi.org/10.1016/s0022-3476(69)80317-3" target="_blank">Full Text</a>]
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<a id="Gandolfi1984" class="mim-anchor"></a>
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Gandolfi, A., Horoupian, D., Rapin, I., DeTeresa, R., Hyams, V.
<strong>Deafness in Cockayne's syndrome: morphological, morphometric, and quantitative study of the auditory pathway.</strong>
Ann. Neurol. 15: 135-143, 1984.
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[<a href="https://doi.org/10.1002/ana.410150205" target="_blank">Full Text</a>]
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Henning, K. A., Li, L., Iyer, N., McDaniel, L. D., Reagan, M. S., Legerski, R., Schultz, R. A., Stefanini, M., Lehmann, A. R., Mayne, L. V., Friedberg, E. C.
<strong>The Cockayne syndrome group A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA polymerase II TFIIH.</strong>
Cell 82: 555-564, 1995.
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[<a href="https://doi.org/10.1016/0092-8674(95)90028-4" target="_blank">Full Text</a>]
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Higginbottom, M. C., Griswold, W. R., Jones, K. L., Vasquez, M. D., Mendoza, S. A., Wilson, C. B.
<strong>The Cockayne syndrome: an evaluation of hypertension and studies of renal pathology.</strong>
Pediatrics 64: 929-934, 1979.
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Hoar, D. I., Waghorne, C.
<strong>DNA repair in Cockayne syndrome.</strong>
Am. J. Hum. Genet. 30: 590-601, 1978.
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<a id="Houston1982" class="mim-anchor"></a>
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Houston, C. S., Zaleski, W. A., Rozdilsky, B.
<strong>Identical male twins and brother with Cockayne syndrome.</strong>
Am. J. Med. Genet. 13: 211-223, 1982.
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[<a href="https://doi.org/10.1002/ajmg.1320130212" target="_blank">Full Text</a>]
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<a id="Jaeken1989" class="mim-anchor"></a>
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Jaeken, J., Klocker, H., Schwaiger, H., Bellmann, R., Hirsch-Kauffmann, M., Schweiger, M.
<strong>Clinical and biochemical studies in three patients with severe early infantile Cockayne syndrome.</strong>
Hum. Genet. 83: 339-346, 1989.
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[<a href="https://doi.org/10.1007/BF00291378" target="_blank">Full Text</a>]
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Khayat, M., Hardouf, H., Zlotogora, J., Shalev, S. A.
<strong>High carriers frequency of an apparently ancient founder mutation p.Tyr322X in the ERCC8 gene responsible for Cockayne syndrome among Christian Arabs in Northern Israel.</strong>
Am. J. Med. Genet. 152A: 3091-3094, 2010.
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[<a href="https://doi.org/10.1002/ajmg.a.33746" target="_blank">Full Text</a>]
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Lanning, M., Simila, S.
<strong>Cockayne's syndrome: report of a case with normal intelligence.</strong>
Z. Kinderheilk. 109: 70-75, 1970.
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Lehmann, A. R., Francis, A. J., Giannelli, F.
<strong>Prenatal diagnosis of Cockayne's syndrome.</strong>
Lancet 325: 486-488, 1985. Note: Originally Volume I.
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[<a href="https://doi.org/10.1016/s0140-6736(85)92088-4" target="_blank">Full Text</a>]
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<a id="Lehmann1993" class="mim-anchor"></a>
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Lehmann, A. R., Thompson, A. F., Harcourt, S. A., Stefanini, M., Norris, P. G.
<strong>Cockayne's syndrome: correlation of clinical features with cellular sensitivity of RNA synthesis to UV irradiation.</strong>
J. Med. Genet. 30: 679-682, 1993.
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[<a href="https://doi.org/10.1136/jmg.30.8.679" target="_blank">Full Text</a>]
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<a id="Lehmann1982" class="mim-anchor"></a>
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Lehmann, A. R.
<strong>Three complementation groups in Cockayne syndrome.</strong>
Mutat. Res. 106: 347-356, 1982.
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[<a href="https://doi.org/10.1016/0027-5107(82)90115-4" target="_blank">Full Text</a>]
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<a id="Lowry1982" class="mim-anchor"></a>
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<p class="mim-text-font">
Lowry, R. B.
<strong>Early onset of Cockayne syndrome. (Editorial)</strong>
Am. J. Med. Genet. 13: 209-210, 1982.
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[<a href="https://doi.org/10.1002/ajmg.1320130211" target="_blank">Full Text</a>]
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<a id="Macdonald1960" class="mim-anchor"></a>
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Macdonald, W. B., Fitch, K. D., Lewis, I. C.
<strong>Cockayne's syndrome: a heredo-familial disorder of growth and development.</strong>
Pediatrics 25: 997-1007, 1960.
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<a id="Mahmoud2002" class="mim-anchor"></a>
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Mahmoud, A. A. H., Yousef, G. M., Al-Hifzi, I., Diamandis, E. P.
<strong>Cockayne syndrome in three sisters with varying clinical presentation.</strong>
Am. J. Med. Genet. 111: 81-85, 2002.
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[<a href="https://doi.org/10.1002/ajmg.10492" target="_blank">Full Text</a>]
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<div class="">
<p class="mim-text-font">
Mallery, D. L., Tanganelli, B., Colella, S., Steingrimsdottir, H., van Gool, A. J., Troelstra, C., Stefanini, M., Lehmann, A. R.
<strong>Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome.</strong>
Am. J. Hum. Genet. 62: 77-85, 1998. Note: Erratum: Am. J. Hum. Genet. 64: 1491 only, 1999.
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[<a href="https://doi.org/10.1086/301686" target="_blank">Full Text</a>]
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<a id="Marshall1980" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Marshall, R. R., Arlett, C. F., Harcourt, S. A., Broughton, B. A.
<strong>Increased sensitivity of cell strains from Cockayne's syndrome to sister-chromatid-exchange induction and cell killing by UV light.</strong>
Mutat. Res. 69: 107-112, 1980.
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[<a href="https://doi.org/10.1016/0027-5107(80)90180-3" target="_blank">Full Text</a>]
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<a id="Mayne1984" class="mim-anchor"></a>
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Mayne, L. V., Broughton, B. C., Lehmann, A. R.
<strong>The ultraviolet sensitivity of Cockayne syndrome cells is not a consequence of reduced cellular NAD content.</strong>
Am. J. Hum. Genet. 36: 311-319, 1984.
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<a id="Mayne1982" class="mim-anchor"></a>
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<p class="mim-text-font">
Mayne, L. V., Lehmann, A. R.
<strong>Failure of RNA synthesis to recover after UV irradiation: an early defect in cells from individuals with Cockayne's syndrome and xeroderma pigmentosum.</strong>
Cancer Res. 42: 1473-1478, 1982.
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<a id="McKusick1973" class="mim-anchor"></a>
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McKusick, V. A.
<strong>Genetics and dermatology, or if I were to rewrite Cockayne's Inherited Abnormalities of the Skin.</strong>
J. Invest. Derm. 60: 343-359, 1973.
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[<a href="https://doi.org/10.1111/1523-1747.ep12702125" target="_blank">Full Text</a>]
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<a id="Moosa1970" class="mim-anchor"></a>
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Moosa, A., Dubowitz, V.
<strong>Peripheral neuropathy in Cockayne's syndrome.</strong>
Arch. Dis. Child. 45: 674-677, 1970.
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[<a href="https://doi.org/10.1136/adc.45.243.674" target="_blank">Full Text</a>]
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<a id="Moyer1982" class="mim-anchor"></a>
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Moyer, D. B., Marquis, P., Shertzer, M. E., Burton, B. K.
<strong>Cockayne syndrome with early onset of manifestations.</strong>
Am. J. Med. Genet. 13: 225-230, 1982.
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[<a href="https://doi.org/10.1002/ajmg.1320130213" target="_blank">Full Text</a>]
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Nance, M. A., Berry, S. A.
<strong>Cockayne syndrome: review of 140 cases.</strong>
Am. J. Med. Genet. 42: 68-84, 1992.
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[<a href="https://doi.org/10.1002/ajmg.1320420115" target="_blank">Full Text</a>]
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Neilan, E. G., Delgado, M. R., Donovan, M. A., Kim, S. Y., Jou, R. L., Wu, B.-L., Kang, P. B.
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[<a href="https://doi.org/10.1001/archneur.65.8.1117" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF01800059" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.26.3.154" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1973.tb01118.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.18.4.288" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1212/wnl.55.10.1442" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/s10038-004-0228-2" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00687702" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1432-1033.1987.tb11433.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1055/s-2008-1059617" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF02267059" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1177/000992287701600304" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1982.tb01424.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF01542989" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF01883670" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0002-9394(14)74486-1" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1128/MCB.16.8.4436" target="_blank">Full Text</a>]
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Proc. Nat. Acad. Sci. 87: 4707-4711, 1990.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2352945/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2352945</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2352945" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1073/pnas.87.12.4707" target="_blank">Full Text</a>]
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<a id="Wilson2016" class="mim-anchor"></a>
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Wilson, B. T., Stark, Z., Sutton, R. E., Danda, S., Ekbote, A. V., Elsayed, S. M., Gibson, L., Goodship, J. A., Jackson, A. P., Keng, W. T., King, M. D., McCann, E., Motojima, T., Murray, J. E., Omata, T., Pilz, D., Pope, K., Sugita, K., White, S. M., Wilson, I. J.
<strong>The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care.</strong>
Genet. Med. 18: 483-493, 2016.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26204423/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26204423</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26204423[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=26204423" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/gim.2015.110" target="_blank">Full Text</a>]
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Ada Hamosh - updated : 10/18/2018
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Marla J. F. O'Neill - updated : 1/26/2012<br>Cassandra L. Kniffin - updated : 10/17/2008<br>Marla J. F. O'Neill - updated : 10/24/2006<br>Victor A. McKusick - updated : 8/8/2002<br>Cassandra L. Kniffin - updated : 7/8/2002<br>Michael J. Wright - updated : 7/24/2001<br>Victor A. McKusick - updated : 7/20/2000<br>Victor A. McKusick - updated : 7/21/1999<br>Victor A. McKusick - updated : 11/26/1997<br>Victor A. McKusick - updated : 10/14/1997<br>Lori M. Kelman - updated : 11/6/1996<br>Moyra Smith - updated : 3/13/1996
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Creation Date:
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Victor A. McKusick : 6/3/1986
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carol : 09/10/2024
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carol : 01/29/2024<br>carol : 01/26/2024<br>alopez : 01/25/2024<br>alopez : 10/18/2018<br>carol : 07/24/2017<br>carol : 09/03/2015<br>mcolton : 6/3/2015<br>alopez : 7/3/2013<br>ckniffin : 6/20/2013<br>alopez : 1/30/2013<br>carol : 1/26/2012<br>terry : 1/26/2012<br>carol : 9/16/2011<br>terry : 2/24/2009<br>wwang : 10/17/2008<br>ckniffin : 10/17/2008<br>wwang : 10/25/2006<br>terry : 10/24/2006<br>joanna : 8/9/2005<br>carol : 6/15/2005<br>ckniffin : 6/14/2005<br>terry : 2/22/2005<br>mgross : 3/17/2004<br>alopez : 10/29/2003<br>carol : 8/13/2002<br>tkritzer : 8/13/2002<br>tkritzer : 8/9/2002<br>terry : 8/8/2002<br>carol : 8/8/2002<br>ckniffin : 8/8/2002<br>ckniffin : 7/8/2002<br>carol : 3/5/2002<br>carol : 12/6/2001<br>alopez : 8/2/2001<br>carol : 8/1/2001<br>alopez : 8/1/2001<br>terry : 7/24/2001<br>mcapotos : 7/20/2000<br>mcapotos : 6/30/2000<br>psherman : 3/24/2000<br>terry : 7/21/1999<br>terry : 6/3/1998<br>jenny : 12/2/1997<br>terry : 11/26/1997<br>jenny : 10/21/1997<br>terry : 10/14/1997<br>terry : 9/15/1997<br>mark : 4/14/1997<br>mark : 2/13/1997<br>terry : 2/13/1997<br>jamie : 12/17/1996<br>jamie : 12/6/1996<br>terry : 12/4/1996<br>terry : 11/25/1996<br>jamie : 11/20/1996<br>jamie : 11/8/1996<br>jamie : 11/6/1996<br>mark : 3/13/1996<br>terry : 3/13/1996<br>mark : 3/13/1996<br>mark : 2/16/1996<br>mark : 2/13/1996<br>mark : 9/29/1995<br>jason : 7/20/1994<br>warfield : 3/16/1994<br>mimadm : 2/19/1994<br>carol : 11/12/1993<br>carol : 10/11/1993
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<strong>#</strong> 216400
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COCKAYNE SYNDROME A; CSA
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<strong>SNOMEDCT:</strong> 890433006; &nbsp;
<strong>ORPHA:</strong> 191, 90321, 90322, 90324; &nbsp;
<strong>DO:</strong> 0080907; &nbsp;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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5q12.1
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Cockayne syndrome, type A
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216400
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Autosomal recessive
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3
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ERCC8
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609412
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because Cockayne syndrome A (CSA) is caused by homozygous or compound heterozygous mutation in the gene encoding the group 8 excision repair cross-complementing protein (ERCC8; 609412) on chromosome 5q12.</p>
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<strong>Description</strong>
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<p>Cockayne syndrome (CS) is characterized by abnormal and slow growth and development that becomes evident within the first few years after birth. 'Cachectic dwarfism' describes the outward appearance of afflicted individuals. Other features include cutaneous photosensitivity, thin, dry hair, a progeroid appearance, progressive pigmentary retinopathy, sensorineural hearing loss, dental caries, and a characteristic stance in the ambulatory patient. Patients often show disproportionately long limbs with large hands and feet, and flexion contractures of joints are usual skeletal features. Knee contractures result in a 'horse-riding stance.' There is delayed neural development and severe progressive neurologic degeneration resulting in mental retardation. The mean age at death in reported cases is 12.5 years, although a few affected individuals have lived into their late teens or twenties. Remarkably, in striking contrast with xeroderma pigmentosum, patients with CS have no significant increase in skin cancer or infection (Nance and Berry, 1992). </p><p>Lowry (1982) noted that there is an early-onset form of Cockayne syndrome in which patients may show abnormalities at birth and have a shorter survival. Lowry (1982) thus suggested that CS could be divided clinically into the more common type I, with classic CS symptoms that manifest within the first few years or life, and the less common type II, with more severe symptoms that manifest prenatally. Mallery et al. (1998) found no correlation between genotype and phenotype among 16 patients with CS of varying severities, and concluded that clinical differences were based on other genetic backgrounds or the intrauterine environment. </p><p><strong><em>Genetic Heterogeneity of Cockayne Syndrome</em></strong></p><p>
Cockayne syndrome is a genetically heterogeneous disorder, and certain types show some overlap with certain forms of xeroderma pigmentosum (XP), another disorder caused by defective DNA repair. See also Cockayne syndrome B (133540), caused by mutation in the ERCC6 gene (609413) on chromosome 10q11; XPG/CS (see 278780), caused by mutation in the ERCC5 gene (133530) on chromosome 13q33; XPB/CS (see 610651), caused by mutation in the ERCC3 gene (133510) on chromosome 2q21; and XPF/CS (see 278760), caused by mutation in the ERCC4 gene (133520) on chromosome 16p13.</p><p>Rapin et al. (2000) reviewed the clinical, pathologic, and molecular features of Cockayne syndrome, xeroderma pigmentosum, and the XP-CS complex. </p>
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<strong>Clinical Features</strong>
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<p>In 2 sibs of nonconsanguineous parents, Neill and Dingwall (1950) described a progeria-like syndrome characterized by dwarfism, microcephaly, severe mental retardation, 'pepper-and-salt' chorioretinitis, and intracranial calcification. The diagnosis may have been Cockayne syndrome. Death from early atherosclerosis occurred in these sibs, as in progeria (Neill, 1966). Examination of the brain of the 2 sibs showed massive pericapillary calcification in the putamina, thalami and cerebellar white matter superficial to the dentate nuclei. In the larger vessels the calcification was mainly in the adventitial coat (Norman, 1963). Paddison et al. (1963) reported a striking pedigree with Cockayne syndrome. </p><p>In 4 patients with Cockayne syndrome, Brumback et al. (1978) noted development of the triad of normal pressure hydrocephalus: dementia, gait disturbance, and incontinence. Higginbottom et al. (1979) noted that hypertension and renal disease are frequent complications of Cockayne syndrome. Bensman et al. (1982) found decreased or undetectable thyroid hormone in the serum of 7 cases of CS. Sato et al. (1988) reviewed renal lesions. Early onset was described by Houston et al. (1982) and by Moyer et al. (1982). In studies of 3 sibs with Cockayne syndrome, Smits et al. (1982) found segmental de- and remyelination with onion-bulb formation in sural nerve biopsies and disturbed visual and brainstem auditory evoked responses indicative of CNS demyelination. They suggested that this finding supports the theory that Cockayne syndrome is a leukodystrophy, as first proposed by Moosa and Dubowitz (1970). </p><p>Patton et al. (1989) described 2 cases of early-onset Cockayne syndrome in unrelated infants. In both, striking failure of growth and developmental deterioration began around 6 months of age. Studies of cultured fibroblasts showed the characteristics typical of Cockayne syndrome, and examination of the brain in 1 patient who died at the age of 34 months showed leukodystrophy with 'tigroid' demyelinization similar to that reported in later-onset cases of Cockayne syndrome. Although the disorder resembled cerebrooculofacioskeletal syndrome (COFS; 214150), the pathologic and fibroblast studies seemed to indicate that it was the same as Cockayne syndrome. </p><p>Traboulsi et al. (1992) described the ocular findings in 8 patients varying in age from 1 to 25 years. Strabismus was present in 4 patients and cataracts in 2, while 3 had nystagmus. Visual acuity was relatively well preserved in 6 patients, including a 25-year-old man with a visual acuity of 20/60 in each eye despite advanced retinal pigmentary changes. </p><p>In an exhaustive review, Nance and Berry (1992) commented that in contrast to other disorders of DNA repair, cancer has not been reported as a feature of classic CS. Furthermore, there appears to be no predisposition to infectious complications. The authors emphasized probable heterogeneity. </p><p>Mahmoud et al. (2002) reported 3 sisters showing clinical features and investigational findings of CS. The 12-year-old proband had typical features of CS. She had no apparent problems until the end of the first year when growth and developmental delay prompted medical evaluation. Brain CT, bone x-rays, and auditory and ophthalmologic evaluation confirmed the clinical impression of CS. Her 2 sisters were later found to have CS. The sisters varied in clinical severity as 2 of them, including the proband, had cataracts and early global delay and died early of inanition and infection. The third had a normal course until the age of 2 years when she started to show deceleration in growth and delay in development. She exhibited mental retardation but did not have cataract and was still ambulatory at the age of 10 years. The parents were not related and the father was married to 2 other wives with 11 unaffected children. </p><p>Upon analysis of cerebrospinal fluid neurotransmitters in a 16-year-old Sri Lankan male with Cockayne syndrome, Ellaway et al. (2000) found a decreased level of 5-hydroxyindole acetic acid and a normal level of homovanillic acid, with a consequent low 5-hydroxyindole acetic acid:homovanillic acid ratio. Peripheral serotonin levels, platelet serotonin, and urinary 5-hydroxyindole acetic acid levels, plasma phenylalanine levels, and dihydropteridine reductase activity were all normal. In view of these findings, the primary disorder of central serotonin metabolism was considered and the proband was treated with 5-hydroxytryptophan. There was no clinical improvement over a period of 2 years, but his cognitive function, tremor, and gait did not deteriorate. Ellaway et al. (2000) also measured resting energy expenditure and found this to be 75% of the predicted value; they suggested that this situation in Cockayne syndrome might be similar to that of anorexia nervosa, where resting energy expenditure is reduced but normalizes upon refeeding, with concomitant increases in body weight. </p><p>Wilson et al. (2016) reviewed the features and made recommendations regarding the evaluation of 102 patients, 44 females and 58 males, with Cockayne syndrome A or B. The mean age of recruited individuals was 11.5 years, with a range of 3 months to 39 years. All patients were microcephalic and had growth failure leading to proportionate short stature. At the time of the analysis, 28 individuals had died, with a mean age of death of 8.4 years with a range of 17 months to 30 years. The most prevalent features were cold extremities and abnormal brain imaging present in over 80% of individuals, followed by weakness, hearing loss, clinical photosensitivity, tremor, joint contractures, abnormal liver function tests, and abnormal bowel movements, present in over 60% but less than 80%. Cataracts were present in about 50% and were likely to be seen by age 4 years. The majority of patients with abnormal brain imaging had calcifications and white matter changes, with a minority having cerebellar corpus callosum or ventriculomegaly abnormalities. Lower extremity joint contractures were more common than upper extremity ones. Cataracts were more likely to be bilateral. Most patients had low-normal birth growth parameters but rapidly fell off the growth charts postnatally. The authors noted that early development may appear to be normal and suggested that developmental delay may be a poor discriminating factor for early diagnosis. The authors suggested that Cockayne syndrome should be suspected in any child with postnatal growth failure, microcephaly, and any 2 of the following: persistently cold hands and feet, bilateral hearing loss, dermal photosensitivity, intention tremor, joint contractures, progressive loss of body fat, cataracts, or typical facial features. Using these criteria increased clinical recognition of Cockayne syndrome in their cohort of 102 patients to around 90%. The authors cautioned that metronidazole causes acute hepatic failure in Cockayne syndrome, which may be fatal and should be avoided in anyone with a suspected diagnosis of Cockayne syndrome. The authors noted that the phenotypic discordance between sibs is not unusual. The only identified association with younger age at death in Cockayne syndrome was with early onset of cataracts (less than 3 years of age). This association was statistically significant (p = 1.36 x 10(-6)); at 5 years, survival is about 60% for those patients with early cataracts and 95% for those without. Wilson et al. (2016) also found a significant association between early cataracts and the time to development of hearing loss and of contractures, but not of tremor or loss of subcutaneous fat. Degree of photosensitivity was not associated with survival or time until the onset of tremor. </p>
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<strong>Inheritance</strong>
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<p>The transmission pattern of CSA in the families reported by Bertola et al. (2006) was consistent with autosomal recessive inheritance. </p>
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<strong>Biochemical Features</strong>
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<p>Schmickel et al. (1977) showed that fibroblasts from 2 unrelated children with Cockayne syndrome exhibited increased sensitivity to UV irradiation, but not to X-irradiation, as measured by colony-forming ability. In addition, both cell lines showed normal rates of removal of thymidine dimers. Andrews et al. (1978) found that CS fibroblasts had markedly decreased post-UV light colony-forming ability compared to controls. However, the patients' fibroblasts had normal rates of UV-induced unscheduled DNA synthesis, indicating that the defect in these cells was not due to abnormal DNA excision repair. The findings differentiated CS from xeroderma pigmentosum, in which DNA excision repair is deficient. Hoar and Waghorne (1978) found normal UV-induced unscheduled DNA synthesis and normal post-replication repair in CS cells. Mayne and Lehmann (1982) showed that cells from patients with Cockayne syndrome failed to recover RNA synthesis after UV irradiation despite normal excision and daughter-strand repair pathways. The findings indicated that recovery of RNA synthesis is an important early response to UV irradiation. </p><p>Schweiger et al. (1987) suggested that the defect in DNA repair in Cockayne syndrome is located beyond incision, exonuclease reaction, and DNA synthesis, and that it may involve a defect in DNA ligase. </p><p>Venema et al. (1990) demonstrated a defect in preferential DNA repair of transcriptionally active DNA in Cockayne syndrome. Cells from normal controls repaired UV-induced pyrimidine dimers at a faster rate in transcriptionally active DNA when compared to a nontranscribed locus or to the genome overall. In contrast, cells from CS patients were unable to repair transcriptionally active DNA as rapidly and efficiently as normal cells, although repair occurred at a slower rate similar to that of untranscribed DNA. Venema et al. (1990) concluded that CS fibroblasts have lost the preferential repair of active genes but are proficient in overall genome repair. Venema et al. (1990) suggested that the results help to elucidate the pleiotropic clinical effects associated with disorders having defects in the repair of DNA damage. In particular, neurodegeneration appeared to be associated with the loss of preferential repair of active genes and not simply correlated with reduced levels of overall repair. </p><p>Lehmann et al. (1993) found failure of RNA synthesis to recover to normal rates after UV irradiation in cells from 29 of 52 patients for whom the clinical diagnosis of Cockayne syndrome was considered a possibility; the other 23 had a normal response. From review of the clinical details, they concluded that, apart from the cardinal features of dwarfism and mental retardation, sun sensitivity correlated best with a positive cellular diagnosis. Pigmentary retinopathy, gait defects, and dental caries were also good indicators, although several patients with a positive cellular diagnosis did not have these features. </p><p>Van Oosterwijk et al. (1996) examined the sensitivity of CSA and CSB fibroblast cells to the DNA damaging agent N-acetoxy-2-acetylaminofluorene (NA-AAF), which mimics UV irradiation. They found that although CS cells are 3-fold more sensitive to NA-AAF than are normal cells and are unable to recover the ability to synthesize RNA, this sensitivity is not due to defective transcription-coupled repair of active genes. They concluded that a transcription defect is the underlying cause of the hypersensitivity and prolonged repressed RNA synthesis. </p><p><strong><em>Complementation Groups A and B</em></strong></p><p>
Tanaka et al. (1981) used cell fusion techniques to demonstrate that there are at least 2 complementation groups in Cockayne syndrome. Fusion between certain cell lines allowed recovery of a nearly normal rate of semiconservative DNA synthesis after UV irradiation. </p><p>Lehmann (1982) performed cell fusion studies on cultured cells from 11 patients with Cockayne syndrome. The 11 cell lines were assigned to 3 complementation groups: 2 to group A, 8 to group B, and 1 to group C. The group C patient was thought to have xeroderma pigmentosum also and was the sole known representative of the XP complementation group B (133510). The patient had clinical as well as biologic features of both disorders. See 610651. </p><p>Jaeken et al. (1989) studied 3 patients with unusually severe CS. Unlike classic CS, the disorder had its onset in the first weeks of life and led to unusually early death. Fibroblasts from 2 of the patients showed a complete defect in the repair of UV-induced thymine dimer lesions; the fibroblasts were unable to remove thymine dimer lesions from their DNA, had a severe reduction of RNA synthesis rates after UV irradiation, and showed no reactivation of a UV-inactivated indicator gene and no DNA recondensation after UV irradiation. DNA repair investigated in these 2 strains resembled that of xeroderma pigmentosum cells of complementation group A (278700). In contrast, fibroblasts from the third patient showed the same in vitro repair characteristics as classic CS cells. The findings in the 2 patients with a complete defect of thymine dimer removal supported the suggestion of Marshall et al. (1980) that there are transitional forms between CS and XP, since in the various forms of the latter condition (with the exception of XP variant), removal of pyrimidine dimer lesions is the underlying defect. Preliminary complementation experiments indicated that the 3 patients belonged to CS complementation group A. </p><p>Stefanini et al. (1996) analyzed cell cultures from 22 Cockayne syndrome donors from different countries and different racial groups. In particular, they tested the cultures for complementation, which they defined as the restoration of normal RNA synthesis rates in UV-irradiated heterokaryons. Cultures from 5 patients were assigned to complementation group A and the remaining 17 were assigned to complementation group B. The authors detected no distinctions (racial, clinical, or cellular) between the 2 complementation groups. </p>
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<strong>Diagnosis</strong>
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<p><strong><em>Prenatal Diagnosis</em></strong></p><p>
Sugita et al. (1982) made the prenatal diagnosis of Cockayne syndrome on the basis of sensitivity of amniocytes to ultraviolet light. Colony-forming ability of the cells from the affected fetus was reduced after UV exposure as compared with normals. Lehmann et al. (1985) demonstrated the feasibility of prenatal diagnosis by study of RNA synthesis in cultured amniotic cells after irradiation with ultraviolet light. Not only are cultured cells from CS patients hypersensitive to the lethal effects of UV and some chemical carcinogens, but also the normal recovery in DNA and RNA synthesis after UV exposure does not occur (Mayne and Lehmann, 1982). A prenatal test based on this observation is simple and rapid and its outcome is unambiguous. </p>
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<strong>Clinical Management</strong>
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<p>Neilan et al. (2008) reported 3 adolescent patients with Cockayne syndrome who showed a clear reduction in tremors and improvement in fine hand movements, including handwriting, following treatment with carbidopa-levodopa. The findings implicated the dopaminergic pathway in the pathogenesis of this disorder. One of the patients ('patient 3') described by Neilan et al. (2008) was later found to have a different disorder (see 616541). </p>
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<strong>Molecular Genetics</strong>
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<p>Henning et al. (1995) identified mutations in the ERCC8 gene in CSA cDNAs of all CSA cell lines examined, including an identical mutation in 2 CSA sibs (609412.0001). </p><p>In a cell line from an 11-year-old girl with photophobia, dwarfism, mental retardation, cataracts, retinopathy, and optic atrophy, Cao et al. (2004) identified compound heterozygosity for a nonsense mutation (E13X; 609412.0003) and a missense mutation (A205P; 609412.0005) in the ERCC8 gene. </p><p>In a cell line from a patient with CSA, Ridley et al. (2005) identified compound heterozygosity for an E13X mutation and a novel missense mutation (A160V; 609412.0004) in the ERCC8 gene. </p><p>Bertola et al. (2006) analyzed the ERCC8 gene in 8 patients from 6 Brazilian families with typical CSA and identified homozygosity or compound heterozygosity for ERCC8 mutations in all of them. The authors stated that there was no obvious genotype/phenotype correlation across the mutation spectrum. </p><p>Khayat et al. (2010) analyzed the Y322X ERCC8 mutation (609412.0002) in the Arab Christian population of northern Israel and found a carrier frequency of 6.79. Haplotype analysis as well as the high carrier frequency suggested that Y322X is an ancient founder mutation that may have originated in the Christian Lebanese community. </p>
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<h4>
<span class="mim-font">
<strong>History</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Edward Alfred Cockayne (1880-1956) was a London physician who concentrated on diseases of children, particularly hereditary diseases. His 'Inherited Abnormalities of the Skin and its Appendages,' published in 1933, was an extensive collation of pedigrees from the literature. Forty years later, McKusick (1973) reviewed the subject of 'genetics and dermatology' under the subtitle 'If I were to rewrite Cockayne's Inherited Abnormalities of the Skin.' McKusick (1973) also provided biographic information on Cockayne, including his important contributions to entomology. </p><p>Czeizel and Marchalko (1995) used the designation Cockayne syndrome type III for the disorder in a teenaged girl with characteristic somatic manifestations of Cockayne syndrome, particularly a cachectic phenotype. She was not dwarfed (stature was 158 cm) but weighed only 30 kg. Her appearance was normal at birth and during the first postnatal years. Loss of adipose tissue occurred after a third year, resulting in thin, atrophic skin, unusual facies with a slender nose and moderately sunken eyes, and a precociously senile appearance. Bilateral impaired hearing of nerve type occurred from 13 years of age with progression. Ocular abnormalities, starting with bilateral corneal infiltrates and band keratopathy, were noted from the age of 14. Menarche occurred at age 13 years with regular menstrual cycles following. The Wechsler test showed an IQ of 128. Werner syndrome (277700) was excluded on the basis of lack of scleroderma-like skin changes. Lack of cataract and the presence of sensitivity to sunlight and bilateral impaired hearing were also noted. </p>
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>See Also:</strong>
</span>
</h4>
<span class="mim-text-font">
Bregman et al. (1996); Cleaver et al. (1999); Cockayne (1933); Cotton
et al. (1970); Cunningham et al. (1978); Deschavanne et al. (1981);
Fujimoto et al. (1969); Gandolfi et al. (1984); Lanning and Simila
(1970); Macdonald et al. (1960); Mayne et al. (1984); Nishio et al.
(1988); Norman and Tingey (1966); Pearce (1972); Pfeiffer and
Bachmann (1973); Proops et al. (1981); Rowlatt (1969); Sugarman et
al. (1977); Tanaka et al. (1985)
</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">
Andrews, A. D., Barrett, S. F., Yoder, F. W., Robbins, J. H.
<strong>Cockayne&#x27;s syndrome fibroblasts have increased sensitivity to ultraviolet light but normal rates of unscheduled DNA synthesis.</strong>
J. Invest. Derm. 70: 237-239, 1978.
[PubMed: 641373]
[Full Text: https://doi.org/10.1111/1523-1747.ep12541383]
</p>
</li>
<li>
<p class="mim-text-font">
Bensman, A., Dardenne, M., Bach, J.-F., De Mouillac, J. V., Lasfargues, G.
<strong>Decrease of thymic hormone serum level in Cockayne syndrome.</strong>
Pediat. Res. 16: 92-94, 1982.
[PubMed: 7058086]
[Full Text: https://doi.org/10.1203/00006450-198202000-00002]
</p>
</li>
<li>
<p class="mim-text-font">
Bertola, D. R., Cao, H., Albano, L. M. J., Oliveira, D. P., Kok, F., Marques-Dias, M. J., Kim, C. A., Hegele, R. A.
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[Full Text: https://doi.org/10.1007/s10038-006-0011-7]
</p>
</li>
<li>
<p class="mim-text-font">
Bregman, D. B., Halaban, R., van Gool, A. J., Henning, K. A., Friedberg, E. C., Warren, S. L.
<strong>UV-induced ubiquitination of RNA polymerase II: a novel modification deficient in Cockayne syndrome cells.</strong>
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[Full Text: https://doi.org/10.1073/pnas.93.21.11586]
</p>
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<li>
<p class="mim-text-font">
Brumback, R. A., Yoder, F. W., Andrews, A. D., Peck, G. L., Robbins, J. H.
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</p>
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<li>
<p class="mim-text-font">
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<p class="mim-text-font">
Cleaver, J. E., Thompson, L. H., Richardson, A. S., States, J. C.
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</p>
</li>
<li>
<p class="mim-text-font">
Cockayne, E. A.
<strong>Inherited Abnormalities of the Skin and its Appendages.</strong>
London: Oxford Univ. Press (pub.) 1933.
</p>
</li>
<li>
<p class="mim-text-font">
Cotton, R. B., Keats, T. E., McCoy, E. E.
<strong>Abnormal blood glucose regulation in Cockayne&#x27;s syndrome.</strong>
Pediatrics 46: 54-60, 1970.
[PubMed: 5450330]
</p>
</li>
<li>
<p class="mim-text-font">
Cunningham, M., Godfrey, S., Moffat, W. M. V.
<strong>Cockayne&#x27;s syndrome and emphysema.</strong>
Arch. Dis. Child. 53: 722-725, 1978.
[PubMed: 309750]
[Full Text: https://doi.org/10.1136/adc.53.9.722]
</p>
</li>
<li>
<p class="mim-text-font">
Czeizel, A. E., Marchalko, M.
<strong>Cockayne syndrome type III with high intelligence.</strong>
Clin. Genet. 48: 331-333, 1995.
[PubMed: 8835332]
[Full Text: https://doi.org/10.1111/j.1399-0004.1995.tb04121.x]
</p>
</li>
<li>
<p class="mim-text-font">
Deschavanne, P. J., Diatloff-Zito, C., Macieira-Coelho, A., Malaise, E.-P.
<strong>Unusual sensitivity of two Cockayne&#x27;s syndrome cell strains to both UV and gamma irradiation.</strong>
Mutat. Res. 91: 403-406, 1981.
[PubMed: 7266580]
[Full Text: https://doi.org/10.1016/0165-7992(81)90022-1]
</p>
</li>
<li>
<p class="mim-text-font">
Ellaway, C. J., Duggins, A., Fung, V. S., Earl, J. W., Kamath, R., Parsons, P. G., Antony, J. A., North, K. N.
<strong>Cockayne syndrome associated with low CSF 5-hydroxyindole acetic acid levels. (Letter)</strong>
J. Med. Genet. 37: 553-557, 2000.
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[Full Text: https://doi.org/10.1136/jmg.37.7.553]
</p>
</li>
<li>
<p class="mim-text-font">
Fujimoto, W. Y., Greene, M. L., Seegmiller, J. E.
<strong>Cockayne&#x27;s syndrome: report of a case with hyperlipoproteinemia, hyperinsulinemia, renal disease, and normal growth hormone.</strong>
J. Pediat. 75: 881-884, 1969.
[PubMed: 5357933]
[Full Text: https://doi.org/10.1016/s0022-3476(69)80317-3]
</p>
</li>
<li>
<p class="mim-text-font">
Gandolfi, A., Horoupian, D., Rapin, I., DeTeresa, R., Hyams, V.
<strong>Deafness in Cockayne&#x27;s syndrome: morphological, morphometric, and quantitative study of the auditory pathway.</strong>
Ann. Neurol. 15: 135-143, 1984.
[PubMed: 6703654]
[Full Text: https://doi.org/10.1002/ana.410150205]
</p>
</li>
<li>
<p class="mim-text-font">
Henning, K. A., Li, L., Iyer, N., McDaniel, L. D., Reagan, M. S., Legerski, R., Schultz, R. A., Stefanini, M., Lehmann, A. R., Mayne, L. V., Friedberg, E. C.
<strong>The Cockayne syndrome group A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA polymerase II TFIIH.</strong>
Cell 82: 555-564, 1995.
[PubMed: 7664335]
[Full Text: https://doi.org/10.1016/0092-8674(95)90028-4]
</p>
</li>
<li>
<p class="mim-text-font">
Higginbottom, M. C., Griswold, W. R., Jones, K. L., Vasquez, M. D., Mendoza, S. A., Wilson, C. B.
<strong>The Cockayne syndrome: an evaluation of hypertension and studies of renal pathology.</strong>
Pediatrics 64: 929-934, 1979.
[PubMed: 514720]
</p>
</li>
<li>
<p class="mim-text-font">
Hoar, D. I., Waghorne, C.
<strong>DNA repair in Cockayne syndrome.</strong>
Am. J. Hum. Genet. 30: 590-601, 1978.
[PubMed: 747187]
</p>
</li>
<li>
<p class="mim-text-font">
Houston, C. S., Zaleski, W. A., Rozdilsky, B.
<strong>Identical male twins and brother with Cockayne syndrome.</strong>
Am. J. Med. Genet. 13: 211-223, 1982.
[PubMed: 6890311]
[Full Text: https://doi.org/10.1002/ajmg.1320130212]
</p>
</li>
<li>
<p class="mim-text-font">
Jaeken, J., Klocker, H., Schwaiger, H., Bellmann, R., Hirsch-Kauffmann, M., Schweiger, M.
<strong>Clinical and biochemical studies in three patients with severe early infantile Cockayne syndrome.</strong>
Hum. Genet. 83: 339-346, 1989.
[PubMed: 2478446]
[Full Text: https://doi.org/10.1007/BF00291378]
</p>
</li>
<li>
<p class="mim-text-font">
Khayat, M., Hardouf, H., Zlotogora, J., Shalev, S. A.
<strong>High carriers frequency of an apparently ancient founder mutation p.Tyr322X in the ERCC8 gene responsible for Cockayne syndrome among Christian Arabs in Northern Israel.</strong>
Am. J. Med. Genet. 152A: 3091-3094, 2010.
[PubMed: 21108394]
[Full Text: https://doi.org/10.1002/ajmg.a.33746]
</p>
</li>
<li>
<p class="mim-text-font">
Lanning, M., Simila, S.
<strong>Cockayne&#x27;s syndrome: report of a case with normal intelligence.</strong>
Z. Kinderheilk. 109: 70-75, 1970.
[PubMed: 5478811]
</p>
</li>
<li>
<p class="mim-text-font">
Lehmann, A. R., Francis, A. J., Giannelli, F.
<strong>Prenatal diagnosis of Cockayne&#x27;s syndrome.</strong>
Lancet 325: 486-488, 1985. Note: Originally Volume I.
[PubMed: 2579301]
[Full Text: https://doi.org/10.1016/s0140-6736(85)92088-4]
</p>
</li>
<li>
<p class="mim-text-font">
Lehmann, A. R., Thompson, A. F., Harcourt, S. A., Stefanini, M., Norris, P. G.
<strong>Cockayne&#x27;s syndrome: correlation of clinical features with cellular sensitivity of RNA synthesis to UV irradiation.</strong>
J. Med. Genet. 30: 679-682, 1993.
[PubMed: 7692050]
[Full Text: https://doi.org/10.1136/jmg.30.8.679]
</p>
</li>
<li>
<p class="mim-text-font">
Lehmann, A. R.
<strong>Three complementation groups in Cockayne syndrome.</strong>
Mutat. Res. 106: 347-356, 1982.
[PubMed: 6185841]
[Full Text: https://doi.org/10.1016/0027-5107(82)90115-4]
</p>
</li>
<li>
<p class="mim-text-font">
Lowry, R. B.
<strong>Early onset of Cockayne syndrome. (Editorial)</strong>
Am. J. Med. Genet. 13: 209-210, 1982.
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[Full Text: https://doi.org/10.1002/ajmg.1320130211]
</p>
</li>
<li>
<p class="mim-text-font">
Macdonald, W. B., Fitch, K. D., Lewis, I. C.
<strong>Cockayne&#x27;s syndrome: a heredo-familial disorder of growth and development.</strong>
Pediatrics 25: 997-1007, 1960.
[PubMed: 14419337]
</p>
</li>
<li>
<p class="mim-text-font">
Mahmoud, A. A. H., Yousef, G. M., Al-Hifzi, I., Diamandis, E. P.
<strong>Cockayne syndrome in three sisters with varying clinical presentation.</strong>
Am. J. Med. Genet. 111: 81-85, 2002.
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[Full Text: https://doi.org/10.1002/ajmg.10492]
</p>
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<li>
<p class="mim-text-font">
Mallery, D. L., Tanganelli, B., Colella, S., Steingrimsdottir, H., van Gool, A. J., Troelstra, C., Stefanini, M., Lehmann, A. R.
<strong>Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome.</strong>
Am. J. Hum. Genet. 62: 77-85, 1998. Note: Erratum: Am. J. Hum. Genet. 64: 1491 only, 1999.
[PubMed: 9443879]
[Full Text: https://doi.org/10.1086/301686]
</p>
</li>
<li>
<p class="mim-text-font">
Marshall, R. R., Arlett, C. F., Harcourt, S. A., Broughton, B. A.
<strong>Increased sensitivity of cell strains from Cockayne&#x27;s syndrome to sister-chromatid-exchange induction and cell killing by UV light.</strong>
Mutat. Res. 69: 107-112, 1980.
[PubMed: 7360141]
[Full Text: https://doi.org/10.1016/0027-5107(80)90180-3]
</p>
</li>
<li>
<p class="mim-text-font">
Mayne, L. V., Broughton, B. C., Lehmann, A. R.
<strong>The ultraviolet sensitivity of Cockayne syndrome cells is not a consequence of reduced cellular NAD content.</strong>
Am. J. Hum. Genet. 36: 311-319, 1984.
[PubMed: 6201064]
</p>
</li>
<li>
<p class="mim-text-font">
Mayne, L. V., Lehmann, A. R.
<strong>Failure of RNA synthesis to recover after UV irradiation: an early defect in cells from individuals with Cockayne&#x27;s syndrome and xeroderma pigmentosum.</strong>
Cancer Res. 42: 1473-1478, 1982.
[PubMed: 6174225]
</p>
</li>
<li>
<p class="mim-text-font">
McKusick, V. A.
<strong>Genetics and dermatology, or if I were to rewrite Cockayne&#x27;s Inherited Abnormalities of the Skin.</strong>
J. Invest. Derm. 60: 343-359, 1973.
[PubMed: 4575893]
[Full Text: https://doi.org/10.1111/1523-1747.ep12702125]
</p>
</li>
<li>
<p class="mim-text-font">
Moosa, A., Dubowitz, V.
<strong>Peripheral neuropathy in Cockayne&#x27;s syndrome.</strong>
Arch. Dis. Child. 45: 674-677, 1970.
[PubMed: 4320535]
[Full Text: https://doi.org/10.1136/adc.45.243.674]
</p>
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Moyer, D. B., Marquis, P., Shertzer, M. E., Burton, B. K.
<strong>Cockayne syndrome with early onset of manifestations.</strong>
Am. J. Med. Genet. 13: 225-230, 1982.
[PubMed: 7137233]
[Full Text: https://doi.org/10.1002/ajmg.1320130213]
</p>
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<p class="mim-text-font">
Nance, M. A., Berry, S. A.
<strong>Cockayne syndrome: review of 140 cases.</strong>
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[Full Text: https://doi.org/10.1002/ajmg.1320420115]
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Neilan, E. G., Delgado, M. R., Donovan, M. A., Kim, S. Y., Jou, R. L., Wu, B.-L., Kang, P. B.
<strong>Response of motor complications in Cockayne syndrome to carbidopa-levodopa.</strong>
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[Full Text: https://doi.org/10.1001/archneur.65.8.1117]
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<p class="mim-text-font">
Neill, C. A., Dingwall, M. M.
<strong>A syndrome resembling progeria: a review of two cases.</strong>
Arch. Dis. Child. 25: 213-223, 1950.
[PubMed: 14783428]
[Full Text: https://doi.org/10.1136/adc.25.123.213]
</p>
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<li>
<p class="mim-text-font">
Neill, C. A.
<strong>Personal Communication.</strong>
Baltimore, Md. 1966.
</p>
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<li>
<p class="mim-text-font">
Nishio, H., Kodama, S., Matsuo, T., Ichihashi, M., Ito, H., Fujiwara, Y.
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[Full Text: https://doi.org/10.1007/BF01800059]
</p>
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<p class="mim-text-font">
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<strong>Syndrome of micrencephaly, strio-cerebellar calcifications, and leucodystrophy.</strong>
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</p>
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<li>
<p class="mim-text-font">
Norman, R. M.
<strong>Malformations of the nervous system, birth injury and diseases of early life. In: Blackwood, W.; McMenemey, W. H.; Meyer, A.; Norman, R. M.; Russell, D. S. (eds.): Greenfield&#x27;s Neuropathology.</strong>
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</p>
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<p class="mim-text-font">
Paddison, R. M., Moossy, J., Derbes, V. J., Kloepfer, H. W.
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</p>
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<li>
<p class="mim-text-font">
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[Full Text: https://doi.org/10.1136/jmg.26.3.154]
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<li>
<p class="mim-text-font">
Pearce, W. G.
<strong>Ocular and genetic features of Cockayne&#x27;s syndrome.</strong>
Canad. J. Ophthal. 7: 435-444, 1972.
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</p>
</li>
<li>
<p class="mim-text-font">
Pfeiffer, R. A., Bachmann, K. D.
<strong>An atypical case of Cockayne&#x27;s syndrome.</strong>
Clin. Genet. 4: 28-32, 1973.
[PubMed: 4691555]
[Full Text: https://doi.org/10.1111/j.1399-0004.1973.tb01118.x]
</p>
</li>
<li>
<p class="mim-text-font">
Proops, R., Taylor, A. M. R., Insley, J.
<strong>A clinical study of a family with Cockayne&#x27;s syndrome.</strong>
J. Med. Genet. 18: 288-293, 1981.
[PubMed: 7277423]
[Full Text: https://doi.org/10.1136/jmg.18.4.288]
</p>
</li>
<li>
<p class="mim-text-font">
Rapin, I., Lindenbaum, Y., Dickson, D. W., Kraemer, K. H., Robbins, J. H.
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[Full Text: https://doi.org/10.1212/wnl.55.10.1442]
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<li>
<p class="mim-text-font">
Ridley, A. J., Colley, J., Wynford-Thomas, D., Jones, C. J.
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[Full Text: https://doi.org/10.1007/s10038-004-0228-2]
</p>
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<li>
<p class="mim-text-font">
Rowlatt, U.
<strong>Cockayne&#x27;s syndrome: report of case with necropsy findings.</strong>
Acta Neuropath. 14: 52-61, 1969.
[PubMed: 5820595]
[Full Text: https://doi.org/10.1007/BF00687702]
</p>
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<li>
<p class="mim-text-font">
Sato, H., Saito, T., Kurosawa, K., Ootaka, T., Furuyama, T., Yoshinaga, K.
<strong>Renal lesions in Cockayne&#x27;s syndrome.</strong>
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[PubMed: 3365865]
</p>
</li>
<li>
<p class="mim-text-font">
Schmickel, R. D., Chu, E. H. Y., Trosko, J. E., Chang, C. C.
<strong>Cockayne syndrome: a cellular sensitivity to ultraviolet light.</strong>
Pediatrics 60: 135-139, 1977.
[PubMed: 887325]
</p>
</li>
<li>
<p class="mim-text-font">
Schweiger, M., Auer, B., Burtscher, H. J., Hirsch-Kauffmann, M., Klocker, H., Schneider, R.
<strong>DNA repair in human cells: biochemistry of the hereditary diseases Fanconi&#x27;s anaemia and Cockayne syndrome.</strong>
Europ. J. Biochem. 165: 235-242, 1987.
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[Full Text: https://doi.org/10.1111/j.1432-1033.1987.tb11433.x]
</p>
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<li>
<p class="mim-text-font">
Smits, M. G., ter Laak, H. J., Gabreels, F. J. M., Pinckers, A. J. L., Renier, W. O., Hombergen, G. C. J., Joosten, E. M. G., Notermans, S. L. H., Gabreels-Festen, A. A. W. M., Thijssen, H. O. M.
<strong>Peripheral and central myelinopathy in Cockayne&#x27;s syndrome: report of 3 siblings.</strong>
Neuropediatrics 13: 161-167, 1982.
[PubMed: 7133337]
[Full Text: https://doi.org/10.1055/s-2008-1059617]
</p>
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<li>
<p class="mim-text-font">
Stefanini, M., Fawcett, H., Botta, E., Nardo, T., Lehmann, A. R.
<strong>Genetic analysis of twenty-two patients with Cockayne syndrome.</strong>
Hum. Genet. 97: 418-423, 1996.
[PubMed: 8834235]
[Full Text: https://doi.org/10.1007/BF02267059]
</p>
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<li>
<p class="mim-text-font">
Sugarman, G. I., Landing, B. H., Reed, W. B.
<strong>Cockayne syndrome: clinical study of two patients and neuropathologic findings in one.</strong>
Clin. Pediat. 16: 225-232, 1977.
[PubMed: 837626]
[Full Text: https://doi.org/10.1177/000992287701600304]
</p>
</li>
<li>
<p class="mim-text-font">
Sugita, T., Ikenaga, M., Suehara, N., Kozuka, T., Furuyama, J., Yabuuchi, H.
<strong>Prenatal diagnosis of Cockayne syndrome using assay of colony-forming ability in ultraviolet light irradiated cells.</strong>
Clin. Genet. 22: 137-142, 1982.
[PubMed: 7151298]
[Full Text: https://doi.org/10.1111/j.1399-0004.1982.tb01424.x]
</p>
</li>
<li>
<p class="mim-text-font">
Tanaka, K., Kawai, K., Kumahara, Y., Ikenaga, M., Okada, Y.
<strong>Genetic complementation groups in Cockayne syndrome.</strong>
Somat. Cell Genet. 7: 445-455, 1981.
[PubMed: 7280930]
[Full Text: https://doi.org/10.1007/BF01542989]
</p>
</li>
<li>
<p class="mim-text-font">
Tanaka, K., Kawai, K., Kumahara, Y., Uchida, T., Okada, Y.
<strong>Establishment of Cockayne syndrome fibroblast cell line belonging to complementation group B by SV40 transformation.</strong>
Jpn. J. Hum. Genet. 30: 21-29, 1985.
[PubMed: 2989592]
[Full Text: https://doi.org/10.1007/BF01883670]
</p>
</li>
<li>
<p class="mim-text-font">
Traboulsi, E. I., De Becker, I., Maumenee, I. H.
<strong>Ocular findings in Cockayne syndrome.</strong>
Am. J. Ophthal. 114: 579-583, 1992.
[PubMed: 1443019]
[Full Text: https://doi.org/10.1016/s0002-9394(14)74486-1]
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</li>
<li>
<p class="mim-text-font">
van Oosterwijk, M. F., Versteeg, A., Filon, R., van Zeeland, A. A., Mullenders, L. H. F.
<strong>The sensitivity of Cockayne&#x27;s syndrome cells to DNA-damaging agents is not due to defective transcription-coupled repair of active genes.</strong>
Molec. Cell. Biol. 16: 4436-4444, 1996.
[PubMed: 8754844]
[Full Text: https://doi.org/10.1128/MCB.16.8.4436]
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</li>
<li>
<p class="mim-text-font">
Venema, J., Mullenders, L. H. F., Natarajan, A. T., van Zeeland, A. A., Mayne, L. V.
<strong>The genetic defect in Cockayne syndrome is associated with a defect in repair of UV-induced DNA damage in transcriptionally active DNA.</strong>
Proc. Nat. Acad. Sci. 87: 4707-4711, 1990.
[PubMed: 2352945]
[Full Text: https://doi.org/10.1073/pnas.87.12.4707]
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</li>
<li>
<p class="mim-text-font">
Wilson, B. T., Stark, Z., Sutton, R. E., Danda, S., Ekbote, A. V., Elsayed, S. M., Gibson, L., Goodship, J. A., Jackson, A. P., Keng, W. T., King, M. D., McCann, E., Motojima, T., Murray, J. E., Omata, T., Pilz, D., Pope, K., Sugita, K., White, S. M., Wilson, I. J.
<strong>The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care.</strong>
Genet. Med. 18: 483-493, 2016.
[PubMed: 26204423]
[Full Text: https://doi.org/10.1038/gim.2015.110]
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