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Entry
- #219200 - CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA; ARCL2A
- OMIM
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<span class="h4">#219200</span>
<br />
<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/219200"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS123700,PS212065"> <strong>Phenotypic Series</strong> </a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#pathogenesis">Pathogenesis</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#heterogeneity">Heterogeneity</a>
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<div><a href="https://clinicaltrials.gov/search?cond=CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=22201&Typ=Pat" title="Autosomal recessive cutis laxa type 2A" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Autosomal recessive cutis …&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=22203&Typ=Pat" title="Autosomal recessive cutis laxa type 2, classic type" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Autosomal recessive cutis …&nbsp;</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK5200/" 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 style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=357058" title="Autosomal recessive cutis laxa type 2A" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Autosomal recessive cutis …</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=357074" title="Autosomal recessive cutis laxa type 2, classic type" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Autosomal recessive cutis …</a></div>
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<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/52e206c6-6036-47d3-9de4-c8699b7113a8/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Animal Models</div>
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</div>
<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://www.alliancegenome.org/disease/DOID:0070134" 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/219200" 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:0070134" 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>
<span>
<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
&nbsp;
</span>
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</div>
<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
<div>
<a id="title" class="mim-anchor"></a>
<div>
<a id="number" class="mim-anchor"></a>
<div class="text-right">
<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
<strong>SNOMEDCT:</strong> 784381008<br />
<strong>ORPHA:</strong> 357058, 357074<br />
<strong>DO:</strong> 0070134<br />
">ICD+</a>
</div>
<div>
<span class="h3">
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
219200
</span>
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<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA; ARCL2A
</span>
</h3>
</div>
<div>
<br />
</div>
<div>
<a id="alternativeTitles" class="mim-anchor"></a>
<div>
<p>
<span class="mim-font">
<em>Alternative titles; symbols</em>
</span>
</p>
</div>
<div>
<h4>
<span class="mim-font">
ARCL2<br />
CUTIS LAXA WITH CONGENITAL DISORDER OF GLYCOSYLATION<br />
CUTIS LAXA WITH GROWTH AND DEVELOPMENTAL DELAY<br />
CUTIS LAXA, DEBRE TYPE<br />
CUTIS LAXA WITH BONE DYSTROPHY<br />
CUTIS LAXA WITH JOINT LAXITY AND RETARDED DEVELOPMENT
</span>
</h4>
</div>
</div>
<div>
<br />
</div>
</div>
<div>
<a id="phenotypeMap" class="mim-anchor"></a>
<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
</span>
</h4>
<div>
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
<thead>
<tr class="active">
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/934?start=-3&limit=10&highlight=934">
12q24.31
</a>
</span>
</td>
<td>
<span class="mim-font">
Cutis laxa, autosomal recessive, type IIA
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/219200"> 219200 </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">
ATP6V0A2
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611716"> 611716 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<div class="btn-group ">
<a href="/clinicalSynopsis/219200" class="btn btn-warning" role="button"> Clinical Synopsis </a>
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<span class="sr-only">Toggle Dropdown</span>
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&nbsp;
<div class="btn-group">
<a href="/phenotypicSeries/PS123700,PS212065" class="btn btn-info" role="button"> Phenotypic Series </a>
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
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&nbsp;
<div class="btn-group">
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
PheneGene Graphics <span class="caret"></span>
</button>
<ul class="dropdown-menu" style="width: 17em;">
<li><a href="/graph/linear/219200" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/219200" 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 (IUGR) <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 /> -
Failure to thrive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/432788009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">432788009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/54840006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">54840006</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0015544&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0015544</a>, <a href="https://bioportal.bioontology.org/search?q=C2315100&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2315100</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001508</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001508</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> HEAD & NECK </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Head </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Microcephaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1148757008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1148757008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q02" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q02</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/742.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">742.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4551563&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551563</a>, <a href="https://bioportal.bioontology.org/search?q=C0025958&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025958</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000252</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000252</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=0584d323b99dcd7001cc50e224947aca" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Microcephaly-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=0584d323b99dcd7001cc50e224947aca&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Face </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Midface hypoplasia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1853242&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1853242</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011800" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011800</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011800" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011800</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=f0adae8ae2dc0ad9ed28c3c3e0e8f8a9" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Midface_Retrusion-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=f0adae8ae2dc0ad9ed28c3c3e0e8f8a9&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 /> -
Long philtrum <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1865014&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1865014</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000343" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000343</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000343" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000343</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=6e8169f9668cf95ffe7aad93a28f672b" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Philtrum,Long-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=6e8169f9668cf95ffe7aad93a28f672b&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 /> -
Flat face <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1853241&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1853241</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012368" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012368</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012368" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012368</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=9ba328482ffd2d39f0d1071965725b03" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Face,Flat-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=9ba328482ffd2d39f0d1071965725b03&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Ears </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Low-set ears <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95515009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95515009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q17.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q17.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0239234&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0239234</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000369" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000369</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000369" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000369</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=9f0956aaa4fd45c34f94336afbbdc931" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Ear,Low-Set-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=9f0956aaa4fd45c34f94336afbbdc931&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Eyes </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Downslanting palpebral fissures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/246800008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">246800008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0423110&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0423110</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000494" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000494</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000494" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000494</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 /> -
Myopia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/57190000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">57190000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H52.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H52.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/367.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">367.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0027092&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0027092</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000545" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000545</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000545" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000545</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">
- Short nose <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854114&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854114</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003196" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003196</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003196" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003196</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=25661c4279536e7705f328dbb0964878" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Nose,Short-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=25661c4279536e7705f328dbb0964878&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 /> -
Anteverted nares <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/708670007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">708670007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1840077&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1840077</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000463" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000463</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000463" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000463</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=656ef0aca7742d97c5769f51f0dd56de" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Nares,Anteverted-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=656ef0aca7742d97c5769f51f0dd56de&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Mouth </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Small mouth <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/14582003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">14582003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q18.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q18.5</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/744.84" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">744.84</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026034&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026034</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000160" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000160</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000160" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000160</a>]</span><br /> -
High-arched palate <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/27272007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">27272007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q38.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q38.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240635&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240635</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000218" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000218</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000218" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000218</a>]</span><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 />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> ABDOMEN </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Gastrointestinal </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Feeding problems in infancy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1842872&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1842872</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>
<span class="mim-font">
- Joint hyperextensibility <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/788453008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">788453008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1862377&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1862377</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001382" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001382</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001382" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001382</a>]</span><br />
</span>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Skull </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Large anterior fontanel <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1866134&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1866134</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000260" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000260</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000260" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000260</a>]</span><br /> -
Delayed closure of the fontanel <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/82779003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">82779003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0277828&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0277828</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000270" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000270</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">
- Congenital hip dislocation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/52781008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">52781008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/48334007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">48334007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q65.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q65.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/754.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">754.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4551649&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551649</a>, <a href="https://bioportal.bioontology.org/search?q=C0019555&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019555</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001374" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001374</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001385" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001385</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001374" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001374</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> SKIN, NAILS, & HAIR </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Skin </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Cutis laxa <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/58588007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">58588007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q82.8" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q82.8</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0010495&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0010495</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000973" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000973</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000973" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000973</a>]</span><br /> -
Loose redundant skin <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/201093004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">201093004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0581342&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0581342</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001582" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001582</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001582" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001582</a>]</span><br /> -
Excessive skin folds <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2673772&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2673772</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Skin Histology </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Abnormal, broken, shortened elastic fibers <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2749690&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2749690</a>]</span><br /> -
Decreased amount of elastin <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2749691&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2749691</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Hair </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Sparse, brittle hair <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2749692&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2749692</a>]</span><br /> -
Coarse hair <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/48610005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">48610005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0277959&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0277959</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002208" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002208</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002208" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002208</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MUSCLE, SOFT TISSUES </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Hypotonia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398151007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398151007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398152000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398152000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026827&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026827</a>, <a href="https://bioportal.bioontology.org/search?q=C1858120&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1858120</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001290" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001290</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001252</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001252</a>]</span><br /> -
Lipodystrophy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/71325002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">71325002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E88.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E88.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/272.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">272.6</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0023787&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0023787</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009125" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009125</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009125" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009125</a>]</span><br /> -
Abnormal distribution of subcutaneous fat <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2749687&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2749687</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">
- Delayed motor development <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854301&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854301</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001270" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001270</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001270" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001270</a>]</span><br /> -
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 /> -
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 /> -
Hypotonia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398151007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398151007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398152000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398152000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026827&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026827</a>, <a href="https://bioportal.bioontology.org/search?q=C1858120&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1858120</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001290" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001290</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001252</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001252</a>]</span><br /> -
Partial pachygyria <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2749686&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2749686</a>]</span><br /> -
Cobblestone lissencephaly, posterior frontal and parietal regions <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3550288&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3550288</a>]</span><br /> -
Board and poorly defined gyri <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3550289&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3550289</a>]</span><br /> -
Polymicrogyria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/4945003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">4945003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266464&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266464</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002126" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002126</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002126" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002126</a>]</span><br /> -
Dandy-Walker malformation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/14447001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">14447001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q03.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q03.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0010964&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0010964</a>, <a href="https://bioportal.bioontology.org/search?q=C2931867&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2931867</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001305" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001305</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001305" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001305</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> LABORATORY ABNORMALITIES </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Abnormal isoelectric focusing of serum transferrin <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2749688&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2749688</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003160" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003160</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003160" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003160</a>]</span><br /> -
Defect in N- and O-glycosylation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2749689&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2749689</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MISCELLANEOUS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Skin abnormalities tend to decrease with age<br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MOLECULAR BASIS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Caused by mutation in the ATPase, H+ transporting, lysosomal, V0 subunit A2 gene (ATP6V0A2, <a href="/entry/611716#0001">611716.0001</a>)<br />
</span>
</div>
</div>
</div>
<div class="text-right">
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
</div>
</div>
</div>
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small">
<div class="row">
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
<h5>
Cutis laxa
- <a href="/phenotypicSeries/PS123700">PS123700</a>
- 14 Entries
</h5>
</div>
</div>
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
<table class="table table-bordered table-condensed table-hover mim-table-padding">
<thead>
<tr>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Location</strong>
</th>
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
<strong>Phenotype</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Inheritance</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />mapping key</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />MIM number</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus<br />MIM number</strong>
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/176?start=-3&limit=10&highlight=176"> 2p22.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619451"> Cutis laxa, autosomal recessive, type IIE </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619451"> 619451 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/150390"> LTBP1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/150390"> 150390 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/270?start=-3&limit=10&highlight=270"> 2p16.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620780"> Cutis laxa, autosomal recessive, type ID </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620780"> 620780 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601548"> EFEMP1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601548"> 601548 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/558?start=-3&limit=10&highlight=558"> 3q13.31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617403"> Cutis laxa, autosomal recessive, type IID </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617403"> 617403 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607027"> ATP6V1A </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607027"> 607027 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/331?start=-3&limit=10&highlight=331"> 7q11.23 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/123700"> Cutis laxa, autosomal dominant </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/123700"> 123700 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/130160"> ELN </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/130160"> 130160 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/427?start=-3&limit=10&highlight=427"> 10q24.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/219150"> Cutis laxa, autosomal recessive, type IIIA </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/219150"> 219150 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/138250"> ALDH18A1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/138250"> 138250 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/427?start=-3&limit=10&highlight=427"> 10q24.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616603"> Cutis laxa, autosomal dominant 3 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616603"> 616603 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/138250"> ALDH18A1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/138250"> 138250 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/611?start=-3&limit=10&highlight=611"> 11q13.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614437"> Cutis laxa, autosomal recessive, type IB </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614437"> 614437 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604633"> EFEMP2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604633"> 604633 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/934?start=-3&limit=10&highlight=934"> 12q24.31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/219200"> Cutis laxa, autosomal recessive, type IIA </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/219200"> 219200 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611716"> ATP6V0A2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611716"> 611716 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/464?start=-3&limit=10&highlight=464"> 14q32.12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614434"> ?Cutis laxa, autosomal dominant 2 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614434"> 614434 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604580"> FBLN5 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604580"> 604580 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/464?start=-3&limit=10&highlight=464"> 14q32.12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/219100"> Cutis laxa, autosomal recessive, type IA </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/219100"> 219100 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604580"> FBLN5 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604580"> 604580 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/1051?start=-3&limit=10&highlight=1051"> 17q25.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614438"> Cutis laxa, autosomal recessive, type IIIB </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614438"> 614438 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/179035"> PYCR1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/179035"> 179035 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/1051?start=-3&limit=10&highlight=1051"> 17q25.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612940"> Cutis laxa, autosomal recessive, type IIB </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612940"> 612940 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/179035"> PYCR1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/179035"> 179035 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/708?start=-3&limit=10&highlight=708"> 19q13.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613177"> Cutis laxa, autosomal recessive, type IC </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613177"> 613177 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604710"> LTBP4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604710"> 604710 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/22/21?start=-3&limit=10&highlight=21"> 22q11.21 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617402"> Cutis laxa, autosomal recessive, type IIC </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617402"> 617402 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/108746"> ATP6V1E1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/108746"> 108746 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
<div class="row">
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
<h5>
Congenital disorders of glycosylation, type I
- <a href="/phenotypicSeries/PS212065">PS212065</a>
- 29 Entries
</h5>
</div>
</div>
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
<table class="table table-bordered table-condensed table-hover mim-table-padding">
<thead>
<tr>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Location</strong>
</th>
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
<strong>Phenotype</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Inheritance</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />mapping key</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />MIM number</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus<br />MIM number</strong>
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/245?start=-3&limit=10&highlight=245"> 1p36.12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614507"> Congenital disorder of glycosylation, type Ir </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614507"> 614507 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602202"> DDOST </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602202"> 602202 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/323?start=-3&limit=10&highlight=323"> 1p36.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613861"> Retinitis pigmentosa 59 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613861"> 613861 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608172"> DHDDS </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608172"> 608172 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/323?start=-3&limit=10&highlight=323"> 1p36.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613861"> ?Congenital disorder of glycosylation, type 1bb </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613861"> 613861 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608172"> DHDDS </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608172"> 608172 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/678?start=-3&limit=10&highlight=678"> 1p31.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603147"> Congenital disorder of glycosylation, type Ic </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603147"> 603147 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604566"> ALG6 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604566"> 604566 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/681?start=-3&limit=10&highlight=681"> 1p31.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614921"> Congenital disorder of glycosylation, type It </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614921"> 614921 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/171900"> PGM1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/171900"> 171900 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1211?start=-3&limit=10&highlight=1211"> 1q22 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612937"> Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612937"> 612937 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605951"> DPM3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605951"> 605951 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/138?start=-3&limit=10&highlight=138"> 3p23 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615597"> Congenital disorder of glycosylation, type Ix </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615597"> 615597 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608605"> STT3B </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608605"> 608605 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/393?start=-3&limit=10&highlight=393"> 3p21.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612015"> Congenital disorder of glycosylation, type In </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612015"> 612015 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611908"> RFT1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611908"> 611908 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/913?start=-3&limit=10&highlight=913"> 3q27.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601110"> Congenital disorder of glycosylation, type Id </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601110"> 601110 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608750"> ALG3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608750"> 608750 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/4/228?start=-3&limit=10&highlight=228"> 4q12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612379"> Congenital disorder of glycosylation, type Iq </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612379"> 612379 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611715"> SRD5A3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611715"> 611715 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/811?start=-3&limit=10&highlight=811"> 6q22.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617082"> ?Congenital disorder of glycosylation, type 1aa </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617082"> 617082 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610463"> NUS1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610463"> 610463 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/9/356?start=-3&limit=10&highlight=356"> 9q22.33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607906"> Congenital disorder of glycosylation, type Ii </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607906"> 607906 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607905"> ALG2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607905"> 607905 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/9/530?start=-3&limit=10&highlight=530"> 9q34.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615042"> Congenital disorder of glycosylation, type Iu </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615042"> 615042 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603564"> DPM2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603564"> 603564 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/9/559?start=-3&limit=10&highlight=559"> 9q34.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610768"> Congenital disorder of glycosylation, type Im </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610768"> 610768 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610746"> DOLK </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610746"> 610746 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/788?start=-3&limit=10&highlight=788"> 11q14.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608104"> Congenital disorder of glycosylation, type Ih </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608104"> 608104 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608103"> ALG8 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608103"> 608103 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/924?start=-3&limit=10&highlight=924"> 11q23.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608776"> Congenital disorder of glycosylation, type Il </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608776"> 608776 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606941"> ALG9 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606941"> 606941 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/1005?start=-3&limit=10&highlight=1005"> 11q23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608093"> Congenital disorder of glycosylation, type Ij </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608093"> 608093 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/191350"> DPAGT1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/191350"> 191350 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/1065?start=-3&limit=10&highlight=1065"> 11q24.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615596"> Congenital disorder of glycosylation, type Iw, autosomal recessive </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615596"> 615596 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601134"> STT3A </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601134"> 601134 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/934?start=-3&limit=10&highlight=934"> 12q24.31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/219200"> Cutis laxa, autosomal recessive, type IIA </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/219200"> 219200 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611716"> ATP6V0A2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611716"> 611716 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/13/193?start=-3&limit=10&highlight=193"> 13q14.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613661"> Congenital disorder of glycosylation, type Ip </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613661"> 613661 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613666"> ALG11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613666"> 613666 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/15/390?start=-3&limit=10&highlight=390"> 15q24.1-q24.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602579"> Congenital disorder of glycosylation, type Ib </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602579"> 602579 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/154550"> MPI </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/154550"> 154550 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/172?start=-3&limit=10&highlight=172"> 16p13.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608540"> Congenital disorder of glycosylation, type Ik </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608540"> 608540 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605907"> ALG1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605907"> 605907 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/179?start=-3&limit=10&highlight=179"> 16p13.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/212065"> Congenital disorder of glycosylation, type Ia </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/212065"> 212065 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601785"> PMM2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601785"> 601785 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/169?start=-3&limit=10&highlight=169"> 17p13.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609180"> Congenital disorder of glycosylation, type If </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609180"> 609180 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604041"> MPDU1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604041"> 604041 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/20/388?start=-3&limit=10&highlight=388"> 20q13.13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608799"> Congenital disorder of glycosylation, type Ie </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608799"> 608799 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603503"> DPM1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603503"> 603503 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/22/396?start=-3&limit=10&highlight=396"> 22q13.33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607143"> Congenital disorder of glycosylation, type Ig </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607143"> 607143 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607144"> ALG12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607144"> 607144 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/448?start=-3&limit=10&highlight=448"> Xq21.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/301031"> Congenital disorder of glycosylation, type Icc </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/301031"> 301031 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300715"> MAGT1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300715"> 300715 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/576?start=-3&limit=10&highlight=576"> Xq23 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300884"> Developmental and epileptic encephalopathy 36 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked">XL</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300884"> 300884 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300776"> ALG13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300776"> 300776 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/840?start=-3&limit=10&highlight=840"> Xq28 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300934"> Congenital disorder of glycosylation, type Iy </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300934"> 300934 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300090"> SSR4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300090"> 300090 </a>
</span>
</td>
</tr>
</tbody>
</table>
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<p>A number sign (#) is used with this entry because autosomal recessive cutis laxa type IIA (ARCL2A) is caused by homozygous or compound heterozygous mutations in the ATP6V0A2 gene (<a href="/entry/611716">611716</a>), which encodes the alpha-2 subunit of the V-type H+ ATPase, on chromosome 12q24. The occurrence of mutations in the same gene in wrinkly skin syndrome (WSS; <a href="/entry/278250">278250</a>) indicates that autosomal recessive cutis laxa type IIA and some cases of WSS represent variable manifestations of the same genetic defect.</p>
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<p>Autosomal recessive cutis laxa type II represents a spectrum of clinical entities with variable severity of cutis laxa, abnormal growth, developmental delay, and associated skeletal abnormalities. Aside from cutis laxa, persistent wide fontanels, frontal bossing, slight oxycephaly, downward-slanted palpebral fissures, reversed-V eyebrows, and dental caries are characteristic. Patients with ARCL2 can be divided into 2 major groups: ARCL2A, comprising those with a combined N- and O-linked glycosylation defect (CDG type II), and ARCL2B, those without a metabolic disorder (summary by <a href="#13" class="mim-tip-reference" title="Morava, E., Guillard, M., Lefeber, D. J., Wevers, R. A. &lt;strong&gt;Autosomal recessive cutis laxa syndrome revisited.&lt;/strong&gt; Europ. J. Hum. Genet. 17: 1099-1110, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19401719/&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;19401719&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=19401719[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/ejhg.2009.22&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="19401719">Morava et al., 2009</a>). <a href="#26" class="mim-tip-reference" title="Van Maldergem, L., Yuksel-Apak, M., Kayserili, H., Seemanova, E., Giurgea, S., Basel-Vanagaite, L., Leao-Teles, E., Vigneron, J., Foulon, M., Greally, M., Jaeken, J., Mundlos, S., Dobyns, W. B. &lt;strong&gt;Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type.&lt;/strong&gt; Neurology 71: 1602-1608, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18716235/&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;18716235&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/01.wnl.0000327822.52212.c7&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="18716235">Van Maldergem et al. (2008)</a> concluded that ARCL2A should be considered more of a multisystem disorder with cobblestone-like brain dysgenesis manifesting as developmental delay and an epileptic neurodegenerative syndrome rather than purely a dermatologic disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=19401719+18716235" 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>For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (<a href="/entry/219100">219100</a>).</p><p><strong><em>Genetic Heterogeneity of Cutis Laxa Type II</em></strong></p><p>
ARCL2A is caused by mutation in the ATP6V0A2 gene. ARCL2B (<a href="/entry/612940">612940</a>) is caused by mutation in the PYCR1 gene (<a href="/entry/179035">179035</a>). ARCL2C (<a href="/entry/617402">617402</a>) is caused by mutation in the ATP6V1E1 gene (<a href="/entry/108746">108746</a>). ARCL2D (<a href="/entry/617403">617403</a>) is caused by mutation in the ATP6V1A gene (<a href="/entry/607027">607027</a>). ARCL2E (<a href="/entry/619451">619451</a>) is caused by mutation in the LTBP1 gene (<a href="/entry/150390">150390</a>).</p>
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<p><a href="#6" class="mim-tip-reference" title="Fittke, H. &lt;strong&gt;Ueber eine ungewoehnliche Form &#x27;multipler Erbabartung&#x27; (Chalodermie und Dysostose).&lt;/strong&gt; Z. Kinderheilk. 63: 510-523, 1942."None>Fittke (1942)</a> described a 10.5-month-old female whose skin from birth had been in loose, redundant folds. The face was spared, however. On stretching, the skin returned only slowly to its original position. The skeletal system showed widely persistent fontanels, slight oxycephaly, and dislocation of one hip. The parents were not known to be related but lived in an area of Europe where most persons were related in some degree. The mother, aged 25 years, had long suffered from 'weak knee joints.' An 8-year-old cousin of the proband showed the same skin changes, as well as pigeon breast, static scoliosis, and flat feet. The fontanels had not closed until the third year. The case of <a href="#4" class="mim-tip-reference" title="Debre, R., Marie, J., Seringe, P. &lt;strong&gt;&#x27;Cutis laxa&#x27; avec dystrophies osseuses.&lt;/strong&gt; Bull. Mem. Soc. Med. Hop. Paris 53: 1038-1039, 1937."None>Debre et al. (1937)</a> may be identical. <a href="#24" class="mim-tip-reference" title="Theopold, W., Wildhack, R. &lt;strong&gt;Dermatochalasis in Rahmen multipler Abartungen.&lt;/strong&gt; Mschr. Kinderheilk. 99: 213-218, 1951."None>Theopold and Wildhack (1951)</a> restudied Fittke's family and demonstrated consanguinity of the parents of the affected cousin.</p><p><a href="#21" class="mim-tip-reference" title="Reisner, S. H., Seelenfreund, M., Ben-Bassat, M. &lt;strong&gt;Cutis laxa associated with severe intrauterine growth retardation and congenital dislocation of the hip.&lt;/strong&gt; Acta Paediat. Scand. 60: 357-360, 1971.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5579863/&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;5579863&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1651-2227.1971.tb06672.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="5579863">Reisner et al. (1971)</a> described 2 sisters with congenital cutis laxa associated with severe intrauterine growth retardation and congenital dislocation of the hip. The parents were first cousins. The authors suggested that the severe form may occur only or mainly in females because it is lethal to the male fetus. They also suggested that this disorder is unusually frequent in Saudi Arabia. <a href="#22" class="mim-tip-reference" title="Sakati, N. O., Nyhan, W. L., Shear, C. S., Kattan, H., Akhtar, M., Bay, C., Jones, K. L., Schackner, L. &lt;strong&gt;Syndrome of cutis laxa, ligamentous laxity, and delayed development.&lt;/strong&gt; Pediatrics 72: 850-856, 1983."None>Sakati et al. (1983)</a> reported 6 cases, bringing the reported total to 13, all female, and raised the question of X-linked dominant lethal in the hemizygous male. However, <a href="#20" class="mim-tip-reference" title="Philip, A. G. S. &lt;strong&gt;Cutis laxa with intrauterine growth retardation and hip dislocation in a male.&lt;/strong&gt; J. Pediat. 93: 150-151, 1978.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/565809/&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;565809&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0022-3476(78)80632-5&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="565809">Philip (1978)</a> observed a case in a male infant. <a href="#7" class="mim-tip-reference" title="Fitzsimmons, J. S., Fitzsimmons, E. M., Guibert, P. R., Zaldua, V., Dodd, K. L. &lt;strong&gt;Variable clinical presentation of cutis laxa.&lt;/strong&gt; Clin. Genet. 28: 284-295, 1985.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4064367/&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;4064367&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1985.tb00402.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="4064367">Fitzsimmons et al. (1985)</a> and <a href="#9" class="mim-tip-reference" title="Goldblatt, J., Wallis, C., Viljoen, D., Beighton, P. &lt;strong&gt;Cutis laxa, retarded development and joint hypermobility syndrome.&lt;/strong&gt; Dysmorph. Clin. Genet. 1: 142-144, 1988."None>Goldblatt et al. (1988)</a> also reported males with this special cutis laxa syndrome. <a href="#1" class="mim-tip-reference" title="Allanson, J., Austin, W., Hecht, F. &lt;strong&gt;Congenital cutis laxa with retardation of growth and motor development: a recessive disorder of connective tissue with male lethality.&lt;/strong&gt; Clin. Genet. 29: 133-136, 1986.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2420495/&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;2420495&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1986.tb01236.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="2420495">Allanson et al. (1986)</a> reported an affected girl with first-cousin parents of Saudi Arabian extraction. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4064367+5579863+2420495+565809" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#17" class="mim-tip-reference" title="Ogur, G., Yuksel-Apak, M., Demiryont, M. &lt;strong&gt;Syndrome of congenital cutis laxa with ligamentous laxity and delayed development: report of a brother and sister from Turkey.&lt;/strong&gt; Am. J. Med. Genet. 37: 6-9, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1700609/&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;1700609&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320370103&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="1700609">Ogur et al. (1990)</a> reported the cases of Turkish brother and sister. <a href="#25" class="mim-tip-reference" title="Van Maldergem, L., Ogur, G., Yuksel, M. &lt;strong&gt;Facial anomalies in congenital cutis laxa with retarded growth and skeletal dysplasia. (Letter)&lt;/strong&gt; Am. J. Med. Genet. 32: 265 only, 1989.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2929668/&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;2929668&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320320229&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="2929668">Van Maldergem et al. (1989)</a> pictured a 23-month-old patient born to Turkish first-cousin parents. Facial features included a bossing of the forehead, reversed-V eyebrows, and downward slant of palpebral fissures. The patient also had enormous bilateral inguinal hernias. <a href="#10" class="mim-tip-reference" title="Imaizumi, K., Kurosawa, K., Makita, Y., Masuno, M., Kuroki, Y. &lt;strong&gt;Male with type II autosomal recessive cutis laxa.&lt;/strong&gt; Clin. Genet. 45: 40-43, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8149651/&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;8149651&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1994.tb03988.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="8149651">Imaizumi et al. (1994)</a> described a nineteenth case; the ratio of males to females was 5 to 14. Their patient, a 5-year-old boy, had pre- and postnatal growth retardation, delayed motor development, cutis laxa, delayed closure of large fontanels, congenital hip dislocation, and characteristic facies. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1700609+8149651+2929668" 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>Based on a previous observation of an abnormal transferrin isoelectric focusing pattern in a patient with cutis laxa indicating an N-glycosylation defect, <a href="#16" class="mim-tip-reference" title="Morava, E., Wopereis, S., Coucke, P., Gillessen-Kaesbach, G., Voit, T., Smeitink, J., Wevers, R., Grunewald, S. &lt;strong&gt;Defective protein glycosylation in patients with cutis laxa syndrome.&lt;/strong&gt; Europ. J. Hum. Genet. 13: 414-421, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15657616/&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;15657616&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/sj.ejhg.5201361&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="15657616">Morava et al. (2005)</a> performed a screening for disorders of protein glycosylation in unrelated children with cutis laxa syndrome. They described 5 patients from consanguineous marriages with a cutis laxa syndrome with skeletal and joint involvement, developmental delay, and neurologic findings. Three of these 5 children had an inborn error of glycan biosynthesis affecting the synthesis of both N- and O-linked glycans, and 2 of these patients had bilateral pachygyria on brain MRI. Two patients had normal glycosylation patterns. All known causes of secondary glycosylation disorders were excluded in the children. No mutations were identified in the FBLN5 gene (<a href="/entry/604580">604580</a>). <a href="#16" class="mim-tip-reference" title="Morava, E., Wopereis, S., Coucke, P., Gillessen-Kaesbach, G., Voit, T., Smeitink, J., Wevers, R., Grunewald, S. &lt;strong&gt;Defective protein glycosylation in patients with cutis laxa syndrome.&lt;/strong&gt; Europ. J. Hum. Genet. 13: 414-421, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15657616/&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;15657616&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/sj.ejhg.5201361&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="15657616">Morava et al. (2005)</a> concluded that these patients had a unique combined glycosylation defect with a distinct clinical phenotype and that a combined defect of glycosylation may be a causative factor in autosomal recessive congenital cutis laxa. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15657616" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#15" class="mim-tip-reference" title="Morava, E., Lefeber, D. J., Urban, Z., de Meileir, L., Meinecke, P., Gillessen Kaesbach, G., Sykut-Cegielska, J., Adamowicz, M., Salafsky, I., Ranells, J., Lemyre, E., van Reeuwijk, J., Brunner, H. G., Wevers, R. A. &lt;strong&gt;Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation.&lt;/strong&gt; Europ. J. Hum. Genet. 16: 28-35, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17971833/&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;17971833&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/sj.ejhg.5201947&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="17971833">Morava et al. (2008)</a> described 10 patients with cutis laxa and congenital disorder of glycosylation, including 3 patients reported by <a href="#16" class="mim-tip-reference" title="Morava, E., Wopereis, S., Coucke, P., Gillessen-Kaesbach, G., Voit, T., Smeitink, J., Wevers, R., Grunewald, S. &lt;strong&gt;Defective protein glycosylation in patients with cutis laxa syndrome.&lt;/strong&gt; Europ. J. Hum. Genet. 13: 414-421, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15657616/&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;15657616&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/sj.ejhg.5201361&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="15657616">Morava et al. (2005)</a>. Clinical features included transient feeding problems in infancy, late closure of the fontanelles, and variable central nervous system involvement including hypotonia, developmental delay, mental retardation, seizures, microcephaly, pachygyria, and myopia. All patients had dysmorphic facial features with downslanting palpebral fissures, midface hypoplasia, anteverted nares, short nose and small mouth. Other features included congenital hip dislocation and joint hyperlaxity. Skin biopsy showed decreased amounts of elastin and abnormal elastin structure. Biochemical analysis showed a combined defect of N- and O-glycosylation. All patients had mutations in the ATP6V0A2 gene (<a href="#11" class="mim-tip-reference" title="Kornak, U., Reynders, E., Dimopoulou, A., van Reeuwijk, J., Fischer, B., Rajab, A., Budde, B., Nurnberg, P., Foulquier, F., ARCL Debre-type Study Group, Lefeber, D., Urban, Z., and 9 others. &lt;strong&gt;Impaired glycosylation and cutis laxa caused by mutations in the vesicular H(+)-ATPase subunit ATP6V0A2.&lt;/strong&gt; Nature Genet. 40: 32-34, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18157129/&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;18157129&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng.2007.45&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="18157129">Kornak et al., 2008</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15657616+17971833+18157129" 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="Van Maldergem, L., Yuksel-Apak, M., Kayserili, H., Seemanova, E., Giurgea, S., Basel-Vanagaite, L., Leao-Teles, E., Vigneron, J., Foulon, M., Greally, M., Jaeken, J., Mundlos, S., Dobyns, W. B. &lt;strong&gt;Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type.&lt;/strong&gt; Neurology 71: 1602-1608, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18716235/&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;18716235&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/01.wnl.0000327822.52212.c7&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="18716235">Van Maldergem et al. (2008)</a> reported 11 patients from 9 families with the Debre type of cutis laxa, which was confirmed by genetic analysis of the ATP6V0A2 in all patients except 1. All had dysmorphic craniofacial features, most commonly including large anterior fontanel, prominent supraorbital ridges and nasal root, downslanting palpebral fissures, and coarse hair. Four patients had microcephaly. The skin showed generalized overfolding and wrinkling, but no hyperelasticity, and skin biopsies showed a sparse elastin network. Connective tissue problems were common, and included inguinal hernia, hip dislocation, and high myopia. There tended to be improvement of cutis laxa throughout childhood. All had mental retardation that varied in severity, and 5 patients developed refractory seizures. Transferrin isoelectric focusing showed CDG type II. Brain imaging was performed in 9 patients, 8 of whom showed a cobblestone-like malformation predominantly in the posterior frontal, perisylvian, and parietal regions. It resembled polymicrogyria, but the cortical ribbon appeared smooth in some areas and irregular in others. These cortical malformations were reminiscent of those observed in the alpha-dystroglycanopathies, such as Walker-Warburg syndrome (see, e.g., MDDGA1, <a href="/entry/236670">236670</a>). Two patients had a Dandy-Walker malformation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18716235" 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="#13" class="mim-tip-reference" title="Morava, E., Guillard, M., Lefeber, D. J., Wevers, R. A. &lt;strong&gt;Autosomal recessive cutis laxa syndrome revisited.&lt;/strong&gt; Europ. J. Hum. Genet. 17: 1099-1110, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19401719/&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;19401719&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=19401719[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/ejhg.2009.22&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="19401719">Morava et al. (2009)</a> reviewed the spectrum of clinical features of the various autosomal recessive syndromes associated with cutis laxa, including ARCL1 (<a href="/entry/219100">219100</a>), ARCL2, de Barsy syndrome (<a href="/entry/219150">219150</a>), X-linked cutis laxa (<a href="/entry/304150">304150</a>), WSS, geroderma osteodysplasticum (GO; <a href="/entry/231070">231070</a>), and Costello syndrome (<a href="/entry/218040">218040</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19401719" 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>Relationship to Wrinkly Skin Syndrome</em></strong></p><p>
<a href="#28" class="mim-tip-reference" title="Zlotogora, J. &lt;strong&gt;Wrinkly skin syndrome and the syndrome of cutis laxa with growth and developmental delay represent the same disorder. (Letter)&lt;/strong&gt; Am. J. Med. Genet. 85: 194 only, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10406678/&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;10406678&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(sici)1096-8628(19990716)85:2&lt;194::aid-ajmg19&gt;3.0.co;2-p&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="10406678">Zlotogora (1999)</a> pointed out that the 2 sisters reported by <a href="#21" class="mim-tip-reference" title="Reisner, S. H., Seelenfreund, M., Ben-Bassat, M. &lt;strong&gt;Cutis laxa associated with severe intrauterine growth retardation and congenital dislocation of the hip.&lt;/strong&gt; Acta Paediat. Scand. 60: 357-360, 1971.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5579863/&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;5579863&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1651-2227.1971.tb06672.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="5579863">Reisner et al. (1971)</a> as one of the first examples of the syndrome of cutis laxa with growth and developmental delay were reported later, along with their newborn brother, as examples of WSS. Conformation that these 2 syndromes represent variable presentations of one disorder may be provided by the report of <a href="#17" class="mim-tip-reference" title="Ogur, G., Yuksel-Apak, M., Demiryont, M. &lt;strong&gt;Syndrome of congenital cutis laxa with ligamentous laxity and delayed development: report of a brother and sister from Turkey.&lt;/strong&gt; Am. J. Med. Genet. 37: 6-9, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1700609/&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;1700609&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320370103&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="1700609">Ogur et al. (1990)</a> on 2 affected Turkish sibs. The boy was severely affected with the classic form of cutis laxa and developmental delay, while his sister showed improvement with the years and at the age of 6.5 years presented with a relatively mild disease, including cutaneous manifestations similar to those found in the wrinkly skin syndrome. Another source of confusion is that some of the children reported with recessive infantile cutis laxa with growth and developmental delay were, in fact, affected with Costello syndrome (see later). Since the wrinkly skin syndrome is not a true form of cutis laxa (<a href="#2" class="mim-tip-reference" title="Azuri, J., Mizrachi, A., Weintraub, S., Lerman-Sagie, T. &lt;strong&gt;Neurological involvement in a child with the wrinkly skin syndrome.&lt;/strong&gt; Am. J. Med. Genet. 82: 31-33, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9916839/&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;9916839&lt;/a&gt;]" pmid="9916839">Azuri et al., 1999</a>), <a href="#28" class="mim-tip-reference" title="Zlotogora, J. &lt;strong&gt;Wrinkly skin syndrome and the syndrome of cutis laxa with growth and developmental delay represent the same disorder. (Letter)&lt;/strong&gt; Am. J. Med. Genet. 85: 194 only, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10406678/&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;10406678&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(sici)1096-8628(19990716)85:2&lt;194::aid-ajmg19&gt;3.0.co;2-p&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="10406678">Zlotogora (1999)</a> suggested use of the designation 'wrinkly skin syndrome' for all of the patients who were reported as affected with either one or the other of these 2 syndromes. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10406678+5579863+1700609+9916839" 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>Congenital disorders of glycosylation (CDG) form a growing class of hereditary disorders caused by defective glycosylation at the level of the endoplasmic reticulum or the Golgi apparatus (<a href="#8" class="mim-tip-reference" title="Freeze, H. H. &lt;strong&gt;Genetic defects in the human glycome.&lt;/strong&gt; Nature Rev. Genet. 7: 537-551, 2006. Note: Erratum: Nature Rev. Genet. 7: 660 only, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16755287/&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;16755287&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/nrg1894&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="16755287">Freeze, 2006</a>). An association of a cutis laxa phenotype with CDG has been described (<a href="#16" class="mim-tip-reference" title="Morava, E., Wopereis, S., Coucke, P., Gillessen-Kaesbach, G., Voit, T., Smeitink, J., Wevers, R., Grunewald, S. &lt;strong&gt;Defective protein glycosylation in patients with cutis laxa syndrome.&lt;/strong&gt; Europ. J. Hum. Genet. 13: 414-421, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15657616/&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;15657616&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/sj.ejhg.5201361&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="15657616">Morava et al., 2005</a>), and wrinkly skin has been observed in an individual with a defect in the conserved oligomeric Golgi (COG) complex (<a href="#27" class="mim-tip-reference" title="Wu, X., Steet, R. A., Bohorov, O., Bakker, J., Newell, J., Krieger, M., Spaapen, L., Kornfeld, S., Freeze, H. H. &lt;strong&gt;Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder.&lt;/strong&gt; Nature Med. 10: 518-523, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15107842/&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;15107842&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/nm1041&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="15107842">Wu et al., 2004</a>). On the basis of these observations, <a href="#11" class="mim-tip-reference" title="Kornak, U., Reynders, E., Dimopoulou, A., van Reeuwijk, J., Fischer, B., Rajab, A., Budde, B., Nurnberg, P., Foulquier, F., ARCL Debre-type Study Group, Lefeber, D., Urban, Z., and 9 others. &lt;strong&gt;Impaired glycosylation and cutis laxa caused by mutations in the vesicular H(+)-ATPase subunit ATP6V0A2.&lt;/strong&gt; Nature Genet. 40: 32-34, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18157129/&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;18157129&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng.2007.45&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="18157129">Kornak et al. (2008)</a> investigated glycosylation of serum proteins isolated from individuals with autosomal recessive cutis laxa type II and found that they showed a CDG type II pattern, which corresponds to a defect of N-glycosylation at the level of processing in the Golgi apparatus. Reduced sialic acid content of the glycans from affected individuals indicated that sialylation, a terminal step of glycan synthesis, was particularly impaired. A strict correlation between phenotype and degree of glycan abnormality was not seen. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16755287+15657616+18157129+15107842" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 15 consanguineous families with a cutis laxa or wrinkly skin syndrome phenotype, <a href="#11" class="mim-tip-reference" title="Kornak, U., Reynders, E., Dimopoulou, A., van Reeuwijk, J., Fischer, B., Rajab, A., Budde, B., Nurnberg, P., Foulquier, F., ARCL Debre-type Study Group, Lefeber, D., Urban, Z., and 9 others. &lt;strong&gt;Impaired glycosylation and cutis laxa caused by mutations in the vesicular H(+)-ATPase subunit ATP6V0A2.&lt;/strong&gt; Nature Genet. 40: 32-34, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18157129/&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;18157129&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng.2007.45&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="18157129">Kornak et al. (2008)</a> performed homozygosity mapping, microsatellite marker analysis, and haplotype analysis and identified a 5.7-Mb region of homozygosity on chromosome 12q24 between markers D12S395 and D12S304 containing the ATP6V0A2 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18157129" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 12 families with diagnoses of either autosomal recessive cutis laxa type II or wrinkly skin syndrome, <a href="#11" class="mim-tip-reference" title="Kornak, U., Reynders, E., Dimopoulou, A., van Reeuwijk, J., Fischer, B., Rajab, A., Budde, B., Nurnberg, P., Foulquier, F., ARCL Debre-type Study Group, Lefeber, D., Urban, Z., and 9 others. &lt;strong&gt;Impaired glycosylation and cutis laxa caused by mutations in the vesicular H(+)-ATPase subunit ATP6V0A2.&lt;/strong&gt; Nature Genet. 40: 32-34, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18157129/&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;18157129&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng.2007.45&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="18157129">Kornak et al. (2008)</a> identified 10 different loss-of-function mutations in the ATP6V0A2 gene. The mutations resulted in abnormal glycosylation of serum proteins (CDG II) and caused an impairment of Golgi trafficking in fibroblasts from affected individuals. The results indicated that the alpha-2 subunit of the proton pump has an important role in the Golgi function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18157129" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#12" class="mim-tip-reference" title="Leao-Teles, E., Quelhas, D., Vilarinho, L., Jacken, J. &lt;strong&gt;De Barsy syndrome and ATP6V0A2-CDG. (Letter)&lt;/strong&gt; Europ. J. Hum. Genet. 18: 526 only, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20010974/&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;20010974&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ejhg.2009.218&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="20010974">Leao-Teles et al. (2010)</a> stated that 1 of the patients studied by <a href="#11" class="mim-tip-reference" title="Kornak, U., Reynders, E., Dimopoulou, A., van Reeuwijk, J., Fischer, B., Rajab, A., Budde, B., Nurnberg, P., Foulquier, F., ARCL Debre-type Study Group, Lefeber, D., Urban, Z., and 9 others. &lt;strong&gt;Impaired glycosylation and cutis laxa caused by mutations in the vesicular H(+)-ATPase subunit ATP6V0A2.&lt;/strong&gt; Nature Genet. 40: 32-34, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18157129/&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;18157129&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng.2007.45&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="18157129">Kornak et al. (2008)</a> and found to have a mutation in the ATP6V0A2 gene (patient 'CoFe') displayed the full clinical picture of the De Barsy syndrome (see <a href="/entry/219150">219150</a>), including cutis laxa, facial dysmorphism, dwarfism, psychomotor retardation, dystonia, congenital hip dysplasia, and corneal dystrophy requiring repeated corneal transplantation. <a href="#12" class="mim-tip-reference" title="Leao-Teles, E., Quelhas, D., Vilarinho, L., Jacken, J. &lt;strong&gt;De Barsy syndrome and ATP6V0A2-CDG. (Letter)&lt;/strong&gt; Europ. J. Hum. Genet. 18: 526 only, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20010974/&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;20010974&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ejhg.2009.218&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="20010974">Leao-Teles et al. (2010)</a> suggested that a subgroup of patients with de Barsy syndrome belongs to the spectrum of ATP6V0A2-associated CDG, and recommended that mutations in the ATP6V0A2 gene be sought in patients diagnosed with de Barsy syndrome. <a href="#14" class="mim-tip-reference" title="Morava, E., Guillard, M., Lefeber, D. J., Wevers, R. A. &lt;strong&gt;Reply to Leao-Teles et al. (Letter)&lt;/strong&gt; Europ. J. Hum. Genet. 18: 526 only, 2010."None>Morava et al. (2010)</a> noted that none of their cohort of 6 patients with de Barsy syndrome had N-linked or O-linked glycosylation abnormalities nor mutations in ATP6V0A2; they stated that further description and photographs of patient CoFe would be helpful, since corneal abnormalities with a movement disorder would widen the range of symptoms evoking glycosylation studies in patients with cutis laxa. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=18157129+20010974" 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 13 patients with ARCL2, <a href="#5" class="mim-tip-reference" title="Fischer, B., Dimopoulou, A., Egerer, J., Gardeitchik, T., Kidd, A., Jost, D., Kayserili, H., Alanay, Y., Tantcheva-Poor, I., Mangold, E., Daumer-Haas, C., Phadke, S., and 13 others. &lt;strong&gt;Further characterization of ATP6V0A2-related autosomal recessive cutis laxa.&lt;/strong&gt; Hum. Genet. 131: 1761-1773, 2012.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/22773132/&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;22773132&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s00439-012-1197-8&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="22773132">Fischer et al. (2012)</a> identified 17 ATP6V0A2 mutations: 1 mutation of the start codon, 3 missense mutations, 3 nonsense mutations, 3 splice site mutations, 3 in-frame deletions, and 4 frameshift mutations; 14 of the mutations were novel. All mutations but 1 were found in homozygous or compound heterozygous state. A heterozygous mutation was detected at the genomic as well as the cDNA level in a 40-year-old patient (patient 2), but a pronounced nonsense-mediated decay of the ATP6V0A2 mRNA in fibroblasts corroborated an ATP6V0A2-related ARCL2. <a href="#5" class="mim-tip-reference" title="Fischer, B., Dimopoulou, A., Egerer, J., Gardeitchik, T., Kidd, A., Jost, D., Kayserili, H., Alanay, Y., Tantcheva-Poor, I., Mangold, E., Daumer-Haas, C., Phadke, S., and 13 others. &lt;strong&gt;Further characterization of ATP6V0A2-related autosomal recessive cutis laxa.&lt;/strong&gt; Hum. Genet. 131: 1761-1773, 2012.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/22773132/&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;22773132&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s00439-012-1197-8&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="22773132">Fischer et al. (2012)</a> suggested that the second mutation most probably resided in noncoding regions not included in the mutation screening. This patient, who was described as the oldest affected individual reported to that time, showed a strikingly progressive phenotype leading to kyphoscoliosis, facial coarsening, mild to moderate mental retardation, and seizures without progression. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22773132" 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><strong><em>Exclusion Studies</em></strong></p><p>
In 3 unrelated patients with autosomal recessive cutis laxa type II, <a href="#23" class="mim-tip-reference" title="Scherrer, D. Z., Alexandrino, F., Cintra, M. L., Sartorato, E. L., Steiner, C. E. &lt;strong&gt;Type II autosomal recessive cutis laxa: report of another patient and molecular studies concerning three candidate genes.&lt;/strong&gt; Am. J. Med. Genet. 146A: 2740-2745, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18819152/&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;18819152&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.32345&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="18819152">Scherrer et al. (2008)</a> excluded mutations in the FBLN4 (<a href="/entry/604633">604633</a>), FBLN5 (<a href="/entry/604580">604580</a>), and LOX (<a href="/entry/153455">153455</a>) genes. The ATP6V0A2 gene was not studied in these patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18819152" 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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<p>Under the title 'congenital cutis laxa with retardation of growth and development,' <a href="#19" class="mim-tip-reference" title="Patton, M. A., Tolmie, J., Ruthnum, P., Bamforth, S., Baraitser, M., Pembrey, M. &lt;strong&gt;Congenital cutis laxa with retardation of growth and development.&lt;/strong&gt; J. Med. Genet. 24: 556-561, 1987.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3669050/&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;3669050&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.24.9.556&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="3669050">Patton et al. (1987)</a> reported 7 patients. Autosomal recessive inheritance was supported by the inclusion of 2 brother-sister pairs. In 1 of these, the parents were second cousins from the Middle East. The authors were impressed with the occurrence of widespread dental caries. Later, <a href="#18" class="mim-tip-reference" title="Patton, M. A., Baraitser, M. &lt;strong&gt;Cutis laxa and the Costello syndrome.&lt;/strong&gt; J. Med. Genet. 30: 622 only, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8411045/&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;8411045&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.30.7.622&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="8411045">Patton and Baraitser (1993)</a> reviewed 5 of the cases and concluded that the appropriate diagnosis was Costello syndrome (<a href="/entry/218040">218040</a>). <a href="#3" class="mim-tip-reference" title="Davies, S. J., Hughes, H. E. &lt;strong&gt;Cutis laxa: a feature of Costello syndrome. (Letter)&lt;/strong&gt; J. Med. Genet. 31: 85 only, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7512146/&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;7512146&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.31.1.85&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="7512146">Davies and Hughes (1994)</a> reviewed case 7 from the paper and, on both history and clinical examination, made 'an unequivocal diagnosis of Costello syndrome.' <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7512146+8411045+3669050" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="references"class="mim-anchor"></a>
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<strong>REFERENCES</strong>
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<a id="1" class="mim-anchor"></a>
<a id="Allanson1986" class="mim-anchor"></a>
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Allanson, J., Austin, W., Hecht, F.
<strong>Congenital cutis laxa with retardation of growth and motor development: a recessive disorder of connective tissue with male lethality.</strong>
Clin. Genet. 29: 133-136, 1986.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2420495/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2420495</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2420495" 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.1399-0004.1986.tb01236.x" target="_blank">Full Text</a>]
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<a id="Azuri1999" class="mim-anchor"></a>
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Azuri, J., Mizrachi, A., Weintraub, S., Lerman-Sagie, T.
<strong>Neurological involvement in a child with the wrinkly skin syndrome.</strong>
Am. J. Med. Genet. 82: 31-33, 1999.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9916839/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9916839</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9916839" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Davies1994" class="mim-anchor"></a>
<div class="">
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Davies, S. J., Hughes, H. E.
<strong>Cutis laxa: a feature of Costello syndrome. (Letter)</strong>
J. Med. Genet. 31: 85 only, 1994.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7512146/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7512146</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7512146" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1136/jmg.31.1.85" target="_blank">Full Text</a>]
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<a id="Debre1937" class="mim-anchor"></a>
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Debre, R., Marie, J., Seringe, P.
<strong>'Cutis laxa' avec dystrophies osseuses.</strong>
Bull. Mem. Soc. Med. Hop. Paris 53: 1038-1039, 1937.
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<a id="5" class="mim-anchor"></a>
<a id="Fischer2012" class="mim-anchor"></a>
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Fischer, B., Dimopoulou, A., Egerer, J., Gardeitchik, T., Kidd, A., Jost, D., Kayserili, H., Alanay, Y., Tantcheva-Poor, I., Mangold, E., Daumer-Haas, C., Phadke, S., and 13 others.
<strong>Further characterization of ATP6V0A2-related autosomal recessive cutis laxa.</strong>
Hum. Genet. 131: 1761-1773, 2012.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22773132/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22773132</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22773132" 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/s00439-012-1197-8" target="_blank">Full Text</a>]
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<a id="Fittke1942" class="mim-anchor"></a>
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Fittke, H.
<strong>Ueber eine ungewoehnliche Form 'multipler Erbabartung' (Chalodermie und Dysostose).</strong>
Z. Kinderheilk. 63: 510-523, 1942.
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<a id="Fitzsimmons1985" class="mim-anchor"></a>
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Fitzsimmons, J. S., Fitzsimmons, E. M., Guibert, P. R., Zaldua, V., Dodd, K. L.
<strong>Variable clinical presentation of cutis laxa.</strong>
Clin. Genet. 28: 284-295, 1985.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4064367/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4064367</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4064367" 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.1399-0004.1985.tb00402.x" target="_blank">Full Text</a>]
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<a id="Freeze2006" class="mim-anchor"></a>
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Freeze, H. H.
<strong>Genetic defects in the human glycome.</strong>
Nature Rev. Genet. 7: 537-551, 2006. Note: Erratum: Nature Rev. Genet. 7: 660 only, 2006.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16755287/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16755287</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16755287" 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/nrg1894" target="_blank">Full Text</a>]
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<a id="Goldblatt1988" class="mim-anchor"></a>
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Goldblatt, J., Wallis, C., Viljoen, D., Beighton, P.
<strong>Cutis laxa, retarded development and joint hypermobility syndrome.</strong>
Dysmorph. Clin. Genet. 1: 142-144, 1988.
</p>
</div>
</li>
<li>
<a id="10" class="mim-anchor"></a>
<a id="Imaizumi1994" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Imaizumi, K., Kurosawa, K., Makita, Y., Masuno, M., Kuroki, Y.
<strong>Male with type II autosomal recessive cutis laxa.</strong>
Clin. Genet. 45: 40-43, 1994.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8149651/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8149651</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8149651" 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.1399-0004.1994.tb03988.x" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="11" class="mim-anchor"></a>
<a id="Kornak2008" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Kornak, U., Reynders, E., Dimopoulou, A., van Reeuwijk, J., Fischer, B., Rajab, A., Budde, B., Nurnberg, P., Foulquier, F., ARCL Debre-type Study Group, Lefeber, D., Urban, Z., and 9 others.
<strong>Impaired glycosylation and cutis laxa caused by mutations in the vesicular H(+)-ATPase subunit ATP6V0A2.</strong>
Nature Genet. 40: 32-34, 2008.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18157129/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18157129</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18157129" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/ng.2007.45" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="12" class="mim-anchor"></a>
<a id="Leao-Teles2010" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Leao-Teles, E., Quelhas, D., Vilarinho, L., Jacken, J.
<strong>De Barsy syndrome and ATP6V0A2-CDG. (Letter)</strong>
Europ. J. Hum. Genet. 18: 526 only, 2010.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20010974/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20010974</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20010974" 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/ejhg.2009.218" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="13" class="mim-anchor"></a>
<a id="Morava2009" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Morava, E., Guillard, M., Lefeber, D. J., Wevers, R. A.
<strong>Autosomal recessive cutis laxa syndrome revisited.</strong>
Europ. J. Hum. Genet. 17: 1099-1110, 2009.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19401719/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19401719</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19401719[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=19401719" 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/ejhg.2009.22" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="14" class="mim-anchor"></a>
<a id="Morava2010" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Morava, E., Guillard, M., Lefeber, D. J., Wevers, R. A.
<strong>Reply to Leao-Teles et al. (Letter)</strong>
Europ. J. Hum. Genet. 18: 526 only, 2010.
</p>
</div>
</li>
<li>
<a id="15" class="mim-anchor"></a>
<a id="Morava2008" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Morava, E., Lefeber, D. J., Urban, Z., de Meileir, L., Meinecke, P., Gillessen Kaesbach, G., Sykut-Cegielska, J., Adamowicz, M., Salafsky, I., Ranells, J., Lemyre, E., van Reeuwijk, J., Brunner, H. G., Wevers, R. A.
<strong>Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation.</strong>
Europ. J. Hum. Genet. 16: 28-35, 2008.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17971833/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17971833</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17971833" 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/sj.ejhg.5201947" target="_blank">Full Text</a>]
</p>
</div>
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<li>
<a id="16" class="mim-anchor"></a>
<a id="Morava2005" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Morava, E., Wopereis, S., Coucke, P., Gillessen-Kaesbach, G., Voit, T., Smeitink, J., Wevers, R., Grunewald, S.
<strong>Defective protein glycosylation in patients with cutis laxa syndrome.</strong>
Europ. J. Hum. Genet. 13: 414-421, 2005.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15657616/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15657616</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15657616" 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/sj.ejhg.5201361" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="17" class="mim-anchor"></a>
<a id="Ogur1990" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Ogur, G., Yuksel-Apak, M., Demiryont, M.
<strong>Syndrome of congenital cutis laxa with ligamentous laxity and delayed development: report of a brother and sister from Turkey.</strong>
Am. J. Med. Genet. 37: 6-9, 1990.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1700609/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1700609</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1700609" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.1320370103" target="_blank">Full Text</a>]
</p>
</div>
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<li>
<a id="18" class="mim-anchor"></a>
<a id="Patton1993" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Patton, M. A., Baraitser, M.
<strong>Cutis laxa and the Costello syndrome.</strong>
J. Med. Genet. 30: 622 only, 1993.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8411045/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8411045</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8411045" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1136/jmg.30.7.622" target="_blank">Full Text</a>]
</p>
</div>
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<a id="19" class="mim-anchor"></a>
<a id="Patton1987" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Patton, M. A., Tolmie, J., Ruthnum, P., Bamforth, S., Baraitser, M., Pembrey, M.
<strong>Congenital cutis laxa with retardation of growth and development.</strong>
J. Med. Genet. 24: 556-561, 1987.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3669050/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3669050</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3669050" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1136/jmg.24.9.556" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="20" class="mim-anchor"></a>
<a id="Philip1978" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Philip, A. G. S.
<strong>Cutis laxa with intrauterine growth retardation and hip dislocation in a male.</strong>
J. Pediat. 93: 150-151, 1978.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/565809/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">565809</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=565809" 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/s0022-3476(78)80632-5" target="_blank">Full Text</a>]
</p>
</div>
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<a id="21" class="mim-anchor"></a>
<a id="Reisner1971" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Reisner, S. H., Seelenfreund, M., Ben-Bassat, M.
<strong>Cutis laxa associated with severe intrauterine growth retardation and congenital dislocation of the hip.</strong>
Acta Paediat. Scand. 60: 357-360, 1971.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5579863/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5579863</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5579863" 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.1651-2227.1971.tb06672.x" target="_blank">Full Text</a>]
</p>
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<a id="22" class="mim-anchor"></a>
<a id="Sakati1983" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Sakati, N. O., Nyhan, W. L., Shear, C. S., Kattan, H., Akhtar, M., Bay, C., Jones, K. L., Schackner, L.
<strong>Syndrome of cutis laxa, ligamentous laxity, and delayed development.</strong>
Pediatrics 72: 850-856, 1983.
</p>
</div>
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<li>
<a id="23" class="mim-anchor"></a>
<a id="Scherrer2008" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Scherrer, D. Z., Alexandrino, F., Cintra, M. L., Sartorato, E. L., Steiner, C. E.
<strong>Type II autosomal recessive cutis laxa: report of another patient and molecular studies concerning three candidate genes.</strong>
Am. J. Med. Genet. 146A: 2740-2745, 2008.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18819152/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18819152</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18819152" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.a.32345" target="_blank">Full Text</a>]
</p>
</div>
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<a id="24" class="mim-anchor"></a>
<a id="Theopold1951" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Theopold, W., Wildhack, R.
<strong>Dermatochalasis in Rahmen multipler Abartungen.</strong>
Mschr. Kinderheilk. 99: 213-218, 1951.
</p>
</div>
</li>
<li>
<a id="25" class="mim-anchor"></a>
<a id="Van Maldergem1989" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Van Maldergem, L., Ogur, G., Yuksel, M.
<strong>Facial anomalies in congenital cutis laxa with retarded growth and skeletal dysplasia. (Letter)</strong>
Am. J. Med. Genet. 32: 265 only, 1989.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2929668/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2929668</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2929668" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.1320320229" target="_blank">Full Text</a>]
</p>
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<a id="26" class="mim-anchor"></a>
<a id="Van Maldergem2008" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Van Maldergem, L., Yuksel-Apak, M., Kayserili, H., Seemanova, E., Giurgea, S., Basel-Vanagaite, L., Leao-Teles, E., Vigneron, J., Foulon, M., Greally, M., Jaeken, J., Mundlos, S., Dobyns, W. B.
<strong>Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type.</strong>
Neurology 71: 1602-1608, 2008.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18716235/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18716235</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18716235" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1212/01.wnl.0000327822.52212.c7" target="_blank">Full Text</a>]
</p>
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<a id="27" class="mim-anchor"></a>
<a id="Wu2004" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Wu, X., Steet, R. A., Bohorov, O., Bakker, J., Newell, J., Krieger, M., Spaapen, L., Kornfeld, S., Freeze, H. H.
<strong>Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder.</strong>
Nature Med. 10: 518-523, 2004.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15107842/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15107842</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15107842" 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/nm1041" target="_blank">Full Text</a>]
</p>
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<a id="28" class="mim-anchor"></a>
<a id="Zlotogora1999" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Zlotogora, J.
<strong>Wrinkly skin syndrome and the syndrome of cutis laxa with growth and developmental delay represent the same disorder. (Letter)</strong>
Am. J. Med. Genet. 85: 194 only, 1999.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10406678/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10406678</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10406678" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/(sici)1096-8628(19990716)85:2&lt;194::aid-ajmg19&gt;3.0.co;2-p" target="_blank">Full Text</a>]
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<a id="contributors" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
<span class="mim-text-font">
<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
</span>
</div>
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
Cassandra L. Kniffin - updated : 3/14/2013
</span>
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<div class="row collapse" id="mimCollapseContributors">
<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
Nara Sobreira - updated : 1/29/2013<br>Marla J. F. O'Neill - updated : 1/31/2012<br>Marla J. F. O'Neill - updated : 1/27/2010<br>Cassandra L. Kniffin - updated : 7/21/2009<br>Cassandra L. Kniffin - updated : 3/24/2008<br>Victor A. McKusick - updated : 1/29/2008<br>Victor A. McKusick - updated : 7/20/1999
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<a id="creationDate" class="mim-anchor"></a>
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
Victor A. McKusick : 6/3/1986
</span>
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<a id="editHistory" class="mim-anchor"></a>
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alopez : 07/21/2021
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alopez : 03/27/2017<br>carol : 10/14/2016<br>carol : 10/19/2015<br>carol : 9/30/2015<br>joanna : 7/18/2014<br>carol : 3/18/2013<br>terry : 3/14/2013<br>ckniffin : 3/14/2013<br>carol : 1/29/2013<br>alopez : 1/31/2012<br>alopez : 1/26/2012<br>alopez : 1/20/2012<br>joanna : 5/17/2011<br>wwang : 1/28/2010<br>terry : 1/27/2010<br>wwang : 9/3/2009<br>wwang : 8/12/2009<br>ckniffin : 7/29/2009<br>ckniffin : 7/21/2009<br>carol : 11/25/2008<br>terry : 6/4/2008<br>carol : 5/2/2008<br>carol : 5/2/2008<br>ckniffin : 3/24/2008<br>alopez : 2/8/2008<br>terry : 1/29/2008<br>alopez : 5/23/2006<br>carol : 4/20/2006<br>carol : 4/19/2006<br>ckniffin : 4/10/2006<br>jlewis : 8/2/1999<br>jlewis : 8/2/1999<br>terry : 7/20/1999<br>pfoster : 8/18/1994<br>carol : 4/15/1994<br>mimadm : 2/19/1994<br>supermim : 3/16/1992<br>carol : 10/23/1990<br>supermim : 3/20/1990
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<h3>
<span class="mim-font">
<strong>#</strong> 219200
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<h3>
<span class="mim-font">
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA; ARCL2A
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<p>
<span class="mim-font">
<em>Alternative titles; symbols</em>
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<h4>
<span class="mim-font">
ARCL2<br />
CUTIS LAXA WITH CONGENITAL DISORDER OF GLYCOSYLATION<br />
CUTIS LAXA WITH GROWTH AND DEVELOPMENTAL DELAY<br />
CUTIS LAXA, DEBRE TYPE<br />
CUTIS LAXA WITH BONE DYSTROPHY<br />
CUTIS LAXA WITH JOINT LAXITY AND RETARDED DEVELOPMENT
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</h4>
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<br />
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<p>
<span class="mim-text-font">
<strong>SNOMEDCT:</strong> 784381008; &nbsp;
<strong>ORPHA:</strong> 357058, 357074; &nbsp;
<strong>DO:</strong> 0070134; &nbsp;
</span>
</p>
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<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
</span>
</h4>
<div>
<table class="table table-bordered table-condensed small mim-table-padding">
<thead>
<tr class="active">
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
12q24.31
</span>
</td>
<td>
<span class="mim-font">
Cutis laxa, autosomal recessive, type IIA
</span>
</td>
<td>
<span class="mim-font">
219200
</span>
</td>
<td>
<span class="mim-font">
Autosomal recessive
</span>
</td>
<td>
<span class="mim-font">
3
</span>
</td>
<td>
<span class="mim-font">
ATP6V0A2
</span>
</td>
<td>
<span class="mim-font">
611716
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>TEXT</strong>
</span>
</h4>
<span class="mim-text-font">
<p>A number sign (#) is used with this entry because autosomal recessive cutis laxa type IIA (ARCL2A) is caused by homozygous or compound heterozygous mutations in the ATP6V0A2 gene (611716), which encodes the alpha-2 subunit of the V-type H+ ATPase, on chromosome 12q24. The occurrence of mutations in the same gene in wrinkly skin syndrome (WSS; 278250) indicates that autosomal recessive cutis laxa type IIA and some cases of WSS represent variable manifestations of the same genetic defect.</p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Description</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Autosomal recessive cutis laxa type II represents a spectrum of clinical entities with variable severity of cutis laxa, abnormal growth, developmental delay, and associated skeletal abnormalities. Aside from cutis laxa, persistent wide fontanels, frontal bossing, slight oxycephaly, downward-slanted palpebral fissures, reversed-V eyebrows, and dental caries are characteristic. Patients with ARCL2 can be divided into 2 major groups: ARCL2A, comprising those with a combined N- and O-linked glycosylation defect (CDG type II), and ARCL2B, those without a metabolic disorder (summary by Morava et al., 2009). Van Maldergem et al. (2008) concluded that ARCL2A should be considered more of a multisystem disorder with cobblestone-like brain dysgenesis manifesting as developmental delay and an epileptic neurodegenerative syndrome rather than purely a dermatologic disorder. </p><p>For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (219100).</p><p><strong><em>Genetic Heterogeneity of Cutis Laxa Type II</em></strong></p><p>
ARCL2A is caused by mutation in the ATP6V0A2 gene. ARCL2B (612940) is caused by mutation in the PYCR1 gene (179035). ARCL2C (617402) is caused by mutation in the ATP6V1E1 gene (108746). ARCL2D (617403) is caused by mutation in the ATP6V1A gene (607027). ARCL2E (619451) is caused by mutation in the LTBP1 gene (150390).</p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Clinical Features</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Fittke (1942) described a 10.5-month-old female whose skin from birth had been in loose, redundant folds. The face was spared, however. On stretching, the skin returned only slowly to its original position. The skeletal system showed widely persistent fontanels, slight oxycephaly, and dislocation of one hip. The parents were not known to be related but lived in an area of Europe where most persons were related in some degree. The mother, aged 25 years, had long suffered from 'weak knee joints.' An 8-year-old cousin of the proband showed the same skin changes, as well as pigeon breast, static scoliosis, and flat feet. The fontanels had not closed until the third year. The case of Debre et al. (1937) may be identical. Theopold and Wildhack (1951) restudied Fittke's family and demonstrated consanguinity of the parents of the affected cousin.</p><p>Reisner et al. (1971) described 2 sisters with congenital cutis laxa associated with severe intrauterine growth retardation and congenital dislocation of the hip. The parents were first cousins. The authors suggested that the severe form may occur only or mainly in females because it is lethal to the male fetus. They also suggested that this disorder is unusually frequent in Saudi Arabia. Sakati et al. (1983) reported 6 cases, bringing the reported total to 13, all female, and raised the question of X-linked dominant lethal in the hemizygous male. However, Philip (1978) observed a case in a male infant. Fitzsimmons et al. (1985) and Goldblatt et al. (1988) also reported males with this special cutis laxa syndrome. Allanson et al. (1986) reported an affected girl with first-cousin parents of Saudi Arabian extraction. </p><p>Ogur et al. (1990) reported the cases of Turkish brother and sister. Van Maldergem et al. (1989) pictured a 23-month-old patient born to Turkish first-cousin parents. Facial features included a bossing of the forehead, reversed-V eyebrows, and downward slant of palpebral fissures. The patient also had enormous bilateral inguinal hernias. Imaizumi et al. (1994) described a nineteenth case; the ratio of males to females was 5 to 14. Their patient, a 5-year-old boy, had pre- and postnatal growth retardation, delayed motor development, cutis laxa, delayed closure of large fontanels, congenital hip dislocation, and characteristic facies. </p><p>Based on a previous observation of an abnormal transferrin isoelectric focusing pattern in a patient with cutis laxa indicating an N-glycosylation defect, Morava et al. (2005) performed a screening for disorders of protein glycosylation in unrelated children with cutis laxa syndrome. They described 5 patients from consanguineous marriages with a cutis laxa syndrome with skeletal and joint involvement, developmental delay, and neurologic findings. Three of these 5 children had an inborn error of glycan biosynthesis affecting the synthesis of both N- and O-linked glycans, and 2 of these patients had bilateral pachygyria on brain MRI. Two patients had normal glycosylation patterns. All known causes of secondary glycosylation disorders were excluded in the children. No mutations were identified in the FBLN5 gene (604580). Morava et al. (2005) concluded that these patients had a unique combined glycosylation defect with a distinct clinical phenotype and that a combined defect of glycosylation may be a causative factor in autosomal recessive congenital cutis laxa. </p><p>Morava et al. (2008) described 10 patients with cutis laxa and congenital disorder of glycosylation, including 3 patients reported by Morava et al. (2005). Clinical features included transient feeding problems in infancy, late closure of the fontanelles, and variable central nervous system involvement including hypotonia, developmental delay, mental retardation, seizures, microcephaly, pachygyria, and myopia. All patients had dysmorphic facial features with downslanting palpebral fissures, midface hypoplasia, anteverted nares, short nose and small mouth. Other features included congenital hip dislocation and joint hyperlaxity. Skin biopsy showed decreased amounts of elastin and abnormal elastin structure. Biochemical analysis showed a combined defect of N- and O-glycosylation. All patients had mutations in the ATP6V0A2 gene (Kornak et al., 2008). </p><p>Van Maldergem et al. (2008) reported 11 patients from 9 families with the Debre type of cutis laxa, which was confirmed by genetic analysis of the ATP6V0A2 in all patients except 1. All had dysmorphic craniofacial features, most commonly including large anterior fontanel, prominent supraorbital ridges and nasal root, downslanting palpebral fissures, and coarse hair. Four patients had microcephaly. The skin showed generalized overfolding and wrinkling, but no hyperelasticity, and skin biopsies showed a sparse elastin network. Connective tissue problems were common, and included inguinal hernia, hip dislocation, and high myopia. There tended to be improvement of cutis laxa throughout childhood. All had mental retardation that varied in severity, and 5 patients developed refractory seizures. Transferrin isoelectric focusing showed CDG type II. Brain imaging was performed in 9 patients, 8 of whom showed a cobblestone-like malformation predominantly in the posterior frontal, perisylvian, and parietal regions. It resembled polymicrogyria, but the cortical ribbon appeared smooth in some areas and irregular in others. These cortical malformations were reminiscent of those observed in the alpha-dystroglycanopathies, such as Walker-Warburg syndrome (see, e.g., MDDGA1, 236670). Two patients had a Dandy-Walker malformation. </p><p>Morava et al. (2009) reviewed the spectrum of clinical features of the various autosomal recessive syndromes associated with cutis laxa, including ARCL1 (219100), ARCL2, de Barsy syndrome (219150), X-linked cutis laxa (304150), WSS, geroderma osteodysplasticum (GO; 231070), and Costello syndrome (218040). </p><p><strong><em>Relationship to Wrinkly Skin Syndrome</em></strong></p><p>
Zlotogora (1999) pointed out that the 2 sisters reported by Reisner et al. (1971) as one of the first examples of the syndrome of cutis laxa with growth and developmental delay were reported later, along with their newborn brother, as examples of WSS. Conformation that these 2 syndromes represent variable presentations of one disorder may be provided by the report of Ogur et al. (1990) on 2 affected Turkish sibs. The boy was severely affected with the classic form of cutis laxa and developmental delay, while his sister showed improvement with the years and at the age of 6.5 years presented with a relatively mild disease, including cutaneous manifestations similar to those found in the wrinkly skin syndrome. Another source of confusion is that some of the children reported with recessive infantile cutis laxa with growth and developmental delay were, in fact, affected with Costello syndrome (see later). Since the wrinkly skin syndrome is not a true form of cutis laxa (Azuri et al., 1999), Zlotogora (1999) suggested use of the designation 'wrinkly skin syndrome' for all of the patients who were reported as affected with either one or the other of these 2 syndromes. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Pathogenesis</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Congenital disorders of glycosylation (CDG) form a growing class of hereditary disorders caused by defective glycosylation at the level of the endoplasmic reticulum or the Golgi apparatus (Freeze, 2006). An association of a cutis laxa phenotype with CDG has been described (Morava et al., 2005), and wrinkly skin has been observed in an individual with a defect in the conserved oligomeric Golgi (COG) complex (Wu et al., 2004). On the basis of these observations, Kornak et al. (2008) investigated glycosylation of serum proteins isolated from individuals with autosomal recessive cutis laxa type II and found that they showed a CDG type II pattern, which corresponds to a defect of N-glycosylation at the level of processing in the Golgi apparatus. Reduced sialic acid content of the glycans from affected individuals indicated that sialylation, a terminal step of glycan synthesis, was particularly impaired. A strict correlation between phenotype and degree of glycan abnormality was not seen. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Mapping</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>In 15 consanguineous families with a cutis laxa or wrinkly skin syndrome phenotype, Kornak et al. (2008) performed homozygosity mapping, microsatellite marker analysis, and haplotype analysis and identified a 5.7-Mb region of homozygosity on chromosome 12q24 between markers D12S395 and D12S304 containing the ATP6V0A2 gene. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Molecular Genetics</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>In 12 families with diagnoses of either autosomal recessive cutis laxa type II or wrinkly skin syndrome, Kornak et al. (2008) identified 10 different loss-of-function mutations in the ATP6V0A2 gene. The mutations resulted in abnormal glycosylation of serum proteins (CDG II) and caused an impairment of Golgi trafficking in fibroblasts from affected individuals. The results indicated that the alpha-2 subunit of the proton pump has an important role in the Golgi function. </p><p>Leao-Teles et al. (2010) stated that 1 of the patients studied by Kornak et al. (2008) and found to have a mutation in the ATP6V0A2 gene (patient 'CoFe') displayed the full clinical picture of the De Barsy syndrome (see 219150), including cutis laxa, facial dysmorphism, dwarfism, psychomotor retardation, dystonia, congenital hip dysplasia, and corneal dystrophy requiring repeated corneal transplantation. Leao-Teles et al. (2010) suggested that a subgroup of patients with de Barsy syndrome belongs to the spectrum of ATP6V0A2-associated CDG, and recommended that mutations in the ATP6V0A2 gene be sought in patients diagnosed with de Barsy syndrome. Morava et al. (2010) noted that none of their cohort of 6 patients with de Barsy syndrome had N-linked or O-linked glycosylation abnormalities nor mutations in ATP6V0A2; they stated that further description and photographs of patient CoFe would be helpful, since corneal abnormalities with a movement disorder would widen the range of symptoms evoking glycosylation studies in patients with cutis laxa. </p><p>In 13 patients with ARCL2, Fischer et al. (2012) identified 17 ATP6V0A2 mutations: 1 mutation of the start codon, 3 missense mutations, 3 nonsense mutations, 3 splice site mutations, 3 in-frame deletions, and 4 frameshift mutations; 14 of the mutations were novel. All mutations but 1 were found in homozygous or compound heterozygous state. A heterozygous mutation was detected at the genomic as well as the cDNA level in a 40-year-old patient (patient 2), but a pronounced nonsense-mediated decay of the ATP6V0A2 mRNA in fibroblasts corroborated an ATP6V0A2-related ARCL2. Fischer et al. (2012) suggested that the second mutation most probably resided in noncoding regions not included in the mutation screening. This patient, who was described as the oldest affected individual reported to that time, showed a strikingly progressive phenotype leading to kyphoscoliosis, facial coarsening, mild to moderate mental retardation, and seizures without progression. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Heterogeneity</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p><strong><em>Exclusion Studies</em></strong></p><p>
In 3 unrelated patients with autosomal recessive cutis laxa type II, Scherrer et al. (2008) excluded mutations in the FBLN4 (604633), FBLN5 (604580), and LOX (153455) genes. The ATP6V0A2 gene was not studied in these patients. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>History</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Under the title 'congenital cutis laxa with retardation of growth and development,' Patton et al. (1987) reported 7 patients. Autosomal recessive inheritance was supported by the inclusion of 2 brother-sister pairs. In 1 of these, the parents were second cousins from the Middle East. The authors were impressed with the occurrence of widespread dental caries. Later, Patton and Baraitser (1993) reviewed 5 of the cases and concluded that the appropriate diagnosis was Costello syndrome (218040). Davies and Hughes (1994) reviewed case 7 from the paper and, on both history and clinical examination, made 'an unequivocal diagnosis of Costello syndrome.' </p>
</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">
Allanson, J., Austin, W., Hecht, F.
<strong>Congenital cutis laxa with retardation of growth and motor development: a recessive disorder of connective tissue with male lethality.</strong>
Clin. Genet. 29: 133-136, 1986.
[PubMed: 2420495]
[Full Text: https://doi.org/10.1111/j.1399-0004.1986.tb01236.x]
</p>
</li>
<li>
<p class="mim-text-font">
Azuri, J., Mizrachi, A., Weintraub, S., Lerman-Sagie, T.
<strong>Neurological involvement in a child with the wrinkly skin syndrome.</strong>
Am. J. Med. Genet. 82: 31-33, 1999.
[PubMed: 9916839]
</p>
</li>
<li>
<p class="mim-text-font">
Davies, S. J., Hughes, H. E.
<strong>Cutis laxa: a feature of Costello syndrome. (Letter)</strong>
J. Med. Genet. 31: 85 only, 1994.
[PubMed: 7512146]
[Full Text: https://doi.org/10.1136/jmg.31.1.85]
</p>
</li>
<li>
<p class="mim-text-font">
Debre, R., Marie, J., Seringe, P.
<strong>&#x27;Cutis laxa&#x27; avec dystrophies osseuses.</strong>
Bull. Mem. Soc. Med. Hop. Paris 53: 1038-1039, 1937.
</p>
</li>
<li>
<p class="mim-text-font">
Fischer, B., Dimopoulou, A., Egerer, J., Gardeitchik, T., Kidd, A., Jost, D., Kayserili, H., Alanay, Y., Tantcheva-Poor, I., Mangold, E., Daumer-Haas, C., Phadke, S., and 13 others.
<strong>Further characterization of ATP6V0A2-related autosomal recessive cutis laxa.</strong>
Hum. Genet. 131: 1761-1773, 2012.
[PubMed: 22773132]
[Full Text: https://doi.org/10.1007/s00439-012-1197-8]
</p>
</li>
<li>
<p class="mim-text-font">
Fittke, H.
<strong>Ueber eine ungewoehnliche Form &#x27;multipler Erbabartung&#x27; (Chalodermie und Dysostose).</strong>
Z. Kinderheilk. 63: 510-523, 1942.
</p>
</li>
<li>
<p class="mim-text-font">
Fitzsimmons, J. S., Fitzsimmons, E. M., Guibert, P. R., Zaldua, V., Dodd, K. L.
<strong>Variable clinical presentation of cutis laxa.</strong>
Clin. Genet. 28: 284-295, 1985.
[PubMed: 4064367]
[Full Text: https://doi.org/10.1111/j.1399-0004.1985.tb00402.x]
</p>
</li>
<li>
<p class="mim-text-font">
Freeze, H. H.
<strong>Genetic defects in the human glycome.</strong>
Nature Rev. Genet. 7: 537-551, 2006. Note: Erratum: Nature Rev. Genet. 7: 660 only, 2006.
[PubMed: 16755287]
[Full Text: https://doi.org/10.1038/nrg1894]
</p>
</li>
<li>
<p class="mim-text-font">
Goldblatt, J., Wallis, C., Viljoen, D., Beighton, P.
<strong>Cutis laxa, retarded development and joint hypermobility syndrome.</strong>
Dysmorph. Clin. Genet. 1: 142-144, 1988.
</p>
</li>
<li>
<p class="mim-text-font">
Imaizumi, K., Kurosawa, K., Makita, Y., Masuno, M., Kuroki, Y.
<strong>Male with type II autosomal recessive cutis laxa.</strong>
Clin. Genet. 45: 40-43, 1994.
[PubMed: 8149651]
[Full Text: https://doi.org/10.1111/j.1399-0004.1994.tb03988.x]
</p>
</li>
<li>
<p class="mim-text-font">
Kornak, U., Reynders, E., Dimopoulou, A., van Reeuwijk, J., Fischer, B., Rajab, A., Budde, B., Nurnberg, P., Foulquier, F., ARCL Debre-type Study Group, Lefeber, D., Urban, Z., and 9 others.
<strong>Impaired glycosylation and cutis laxa caused by mutations in the vesicular H(+)-ATPase subunit ATP6V0A2.</strong>
Nature Genet. 40: 32-34, 2008.
[PubMed: 18157129]
[Full Text: https://doi.org/10.1038/ng.2007.45]
</p>
</li>
<li>
<p class="mim-text-font">
Leao-Teles, E., Quelhas, D., Vilarinho, L., Jacken, J.
<strong>De Barsy syndrome and ATP6V0A2-CDG. (Letter)</strong>
Europ. J. Hum. Genet. 18: 526 only, 2010.
[PubMed: 20010974]
[Full Text: https://doi.org/10.1038/ejhg.2009.218]
</p>
</li>
<li>
<p class="mim-text-font">
Morava, E., Guillard, M., Lefeber, D. J., Wevers, R. A.
<strong>Autosomal recessive cutis laxa syndrome revisited.</strong>
Europ. J. Hum. Genet. 17: 1099-1110, 2009.
[PubMed: 19401719]
[Full Text: https://doi.org/10.1038/ejhg.2009.22]
</p>
</li>
<li>
<p class="mim-text-font">
Morava, E., Guillard, M., Lefeber, D. J., Wevers, R. A.
<strong>Reply to Leao-Teles et al. (Letter)</strong>
Europ. J. Hum. Genet. 18: 526 only, 2010.
</p>
</li>
<li>
<p class="mim-text-font">
Morava, E., Lefeber, D. J., Urban, Z., de Meileir, L., Meinecke, P., Gillessen Kaesbach, G., Sykut-Cegielska, J., Adamowicz, M., Salafsky, I., Ranells, J., Lemyre, E., van Reeuwijk, J., Brunner, H. G., Wevers, R. A.
<strong>Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation.</strong>
Europ. J. Hum. Genet. 16: 28-35, 2008.
[PubMed: 17971833]
[Full Text: https://doi.org/10.1038/sj.ejhg.5201947]
</p>
</li>
<li>
<p class="mim-text-font">
Morava, E., Wopereis, S., Coucke, P., Gillessen-Kaesbach, G., Voit, T., Smeitink, J., Wevers, R., Grunewald, S.
<strong>Defective protein glycosylation in patients with cutis laxa syndrome.</strong>
Europ. J. Hum. Genet. 13: 414-421, 2005.
[PubMed: 15657616]
[Full Text: https://doi.org/10.1038/sj.ejhg.5201361]
</p>
</li>
<li>
<p class="mim-text-font">
Ogur, G., Yuksel-Apak, M., Demiryont, M.
<strong>Syndrome of congenital cutis laxa with ligamentous laxity and delayed development: report of a brother and sister from Turkey.</strong>
Am. J. Med. Genet. 37: 6-9, 1990.
[PubMed: 1700609]
[Full Text: https://doi.org/10.1002/ajmg.1320370103]
</p>
</li>
<li>
<p class="mim-text-font">
Patton, M. A., Baraitser, M.
<strong>Cutis laxa and the Costello syndrome.</strong>
J. Med. Genet. 30: 622 only, 1993.
[PubMed: 8411045]
[Full Text: https://doi.org/10.1136/jmg.30.7.622]
</p>
</li>
<li>
<p class="mim-text-font">
Patton, M. A., Tolmie, J., Ruthnum, P., Bamforth, S., Baraitser, M., Pembrey, M.
<strong>Congenital cutis laxa with retardation of growth and development.</strong>
J. Med. Genet. 24: 556-561, 1987.
[PubMed: 3669050]
[Full Text: https://doi.org/10.1136/jmg.24.9.556]
</p>
</li>
<li>
<p class="mim-text-font">
Philip, A. G. S.
<strong>Cutis laxa with intrauterine growth retardation and hip dislocation in a male.</strong>
J. Pediat. 93: 150-151, 1978.
[PubMed: 565809]
[Full Text: https://doi.org/10.1016/s0022-3476(78)80632-5]
</p>
</li>
<li>
<p class="mim-text-font">
Reisner, S. H., Seelenfreund, M., Ben-Bassat, M.
<strong>Cutis laxa associated with severe intrauterine growth retardation and congenital dislocation of the hip.</strong>
Acta Paediat. Scand. 60: 357-360, 1971.
[PubMed: 5579863]
[Full Text: https://doi.org/10.1111/j.1651-2227.1971.tb06672.x]
</p>
</li>
<li>
<p class="mim-text-font">
Sakati, N. O., Nyhan, W. L., Shear, C. S., Kattan, H., Akhtar, M., Bay, C., Jones, K. L., Schackner, L.
<strong>Syndrome of cutis laxa, ligamentous laxity, and delayed development.</strong>
Pediatrics 72: 850-856, 1983.
</p>
</li>
<li>
<p class="mim-text-font">
Scherrer, D. Z., Alexandrino, F., Cintra, M. L., Sartorato, E. L., Steiner, C. E.
<strong>Type II autosomal recessive cutis laxa: report of another patient and molecular studies concerning three candidate genes.</strong>
Am. J. Med. Genet. 146A: 2740-2745, 2008.
[PubMed: 18819152]
[Full Text: https://doi.org/10.1002/ajmg.a.32345]
</p>
</li>
<li>
<p class="mim-text-font">
Theopold, W., Wildhack, R.
<strong>Dermatochalasis in Rahmen multipler Abartungen.</strong>
Mschr. Kinderheilk. 99: 213-218, 1951.
</p>
</li>
<li>
<p class="mim-text-font">
Van Maldergem, L., Ogur, G., Yuksel, M.
<strong>Facial anomalies in congenital cutis laxa with retarded growth and skeletal dysplasia. (Letter)</strong>
Am. J. Med. Genet. 32: 265 only, 1989.
[PubMed: 2929668]
[Full Text: https://doi.org/10.1002/ajmg.1320320229]
</p>
</li>
<li>
<p class="mim-text-font">
Van Maldergem, L., Yuksel-Apak, M., Kayserili, H., Seemanova, E., Giurgea, S., Basel-Vanagaite, L., Leao-Teles, E., Vigneron, J., Foulon, M., Greally, M., Jaeken, J., Mundlos, S., Dobyns, W. B.
<strong>Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type.</strong>
Neurology 71: 1602-1608, 2008.
[PubMed: 18716235]
[Full Text: https://doi.org/10.1212/01.wnl.0000327822.52212.c7]
</p>
</li>
<li>
<p class="mim-text-font">
Wu, X., Steet, R. A., Bohorov, O., Bakker, J., Newell, J., Krieger, M., Spaapen, L., Kornfeld, S., Freeze, H. H.
<strong>Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder.</strong>
Nature Med. 10: 518-523, 2004.
[PubMed: 15107842]
[Full Text: https://doi.org/10.1038/nm1041]
</p>
</li>
<li>
<p class="mim-text-font">
Zlotogora, J.
<strong>Wrinkly skin syndrome and the syndrome of cutis laxa with growth and developmental delay represent the same disorder. (Letter)</strong>
Am. J. Med. Genet. 85: 194 only, 1999.
[PubMed: 10406678]
[Full Text: https://doi.org/10.1002/(sici)1096-8628(19990716)85:2&lt;194::aid-ajmg19&gt;3.0.co;2-p]
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