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Entry
- #309000 - LOWE OCULOCEREBRORENAL SYNDROME; OCRL
- OMIM
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<span class="h4">#309000</span>
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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/309000"><strong>Clinical Synopsis</strong></a>
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<a href="#diagnosis">Diagnosis</a>
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<a href="#biochemicalFeatures">Biochemical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#mapping">Mapping</a>
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<a href="#populationGenetics">Population Genetics</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=LOWE OCULOCEREBRORENAL SYNDROME" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=123&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div style="display: table-row">
<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 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:1056" 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/309000" 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:1056" 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 class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
<span class="panel-title">
<span class="small">
<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Cell Lines</div>
</div>
</a>
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</span>
</div>
<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://catalog.coriell.org/Search?q=OmimNum:309000" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
</div>
</div>
</div>
</div>
</div>
</div>
<span>
<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
&nbsp;
</span>
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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> 79385002<br />
<strong>ICD10CM:</strong> E72.03<br />
<strong>ORPHA:</strong> 534<br />
<strong>DO:</strong> 1056<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>
309000
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
LOWE OCULOCEREBRORENAL SYNDROME; OCRL
</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">
OCRL1<br />
LOWE SYNDROME<br />
PHOSPHATIDYLINOSITOL 4,5-BISPHOSPHATE 5-PHOSPHATASE DEFICIENCY
</span>
</h4>
</div>
</div>
<div>
<br />
</div>
</div>
<div>
<a id="phenotypeMap" class="mim-anchor"></a>
<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
</span>
</h4>
<div>
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
<thead>
<tr class="active">
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/667?start=-3&limit=10&highlight=667">
Xq26.1
</a>
</span>
</td>
<td>
<span class="mim-font">
Lowe syndrome
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/309000"> 309000 </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">
OCRL
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300535"> 300535 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
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<div class="btn-group ">
<a href="/clinicalSynopsis/309000" class="btn btn-warning" role="button"> Clinical Synopsis </a>
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
<span class="caret"></span>
<span class="sr-only">Toggle Dropdown</span>
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&nbsp;
<div class="btn-group">
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
PheneGene Graphics <span class="caret"></span>
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<ul class="dropdown-menu" style="width: 17em;">
<li><a href="/graph/linear/309000" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/309000" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
</ul>
</div>
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
<div>
<p />
</div>
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small" style="margin: 5px">
<div>
<div>
<span class="h5 mim-font">
<strong> INHERITANCE </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- X-linked recessive <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1845977&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1845977</a>, <a href="https://bioportal.bioontology.org/search?q=C1279481&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1279481</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001419" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001419</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001419" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001419</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> Height </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Short stature <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/422065006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">422065006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237836003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237836003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237837007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237837007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E34.31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E34.31</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R62.52" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R62.52</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.43" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.43</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0349588&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0349588</a>, <a href="https://bioportal.bioontology.org/search?q=C0013336&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013336</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003510</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Other </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Failure to thrive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/432788009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">432788009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/54840006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">54840006</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0015544&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0015544</a>, <a href="https://bioportal.bioontology.org/search?q=C2315100&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2315100</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001508</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001508</a>]</span><br />
</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> Eyes </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Congenital cataract (males) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839861&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839861</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/79410001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">79410001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q12.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q12.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/743.30" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.30</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000519" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000519</a>]</span><br /> -
Glaucoma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/23986001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">23986001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H40-H42" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H40-H42</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H40</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H40.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H40.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/365" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">365</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/365.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">365.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0017601&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0017601</a>, <a href="https://bioportal.bioontology.org/search?q=C0997768&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0997768</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000501" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000501</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000501" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000501</a>]</span><br /> -
Microphthalmia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204108000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204108000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/61142002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">61142002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q11.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q11.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/743.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.1</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/743.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.10</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/743.11" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.11</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026010&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026010</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000568" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000568</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000568" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000568</a>]</span><br /> -
Decreased visual acuity <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/13164000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">13164000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0234632&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234632</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007663" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007663</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007663" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007663</a>]</span><br /> -
Corneal keloid <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/418254004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">418254004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1642403&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1642403</a>]</span><br /> -
Fine lens opacities (carrier females) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839862&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839862</a>]</span><br /> -
Dense, posterior cortical cataract (carrier females) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839863&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839863</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 cysts <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/89988002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">89988002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K04.8" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K04.8</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/522.8" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">522.8</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0034543&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0034543</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000700" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000700</a>]</span><br /> -
Enamel hypoplasia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/26597004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">26597004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011351&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011351</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006297" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006297</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006297" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006297</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">
- Constipation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/14760008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">14760008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K59.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K59.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/K59.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K59.00</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/564.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">564.00</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/564.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">564.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0009806&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0009806</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002019" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002019</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002019" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002019</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> GENITOURINARY </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Internal Genitalia (Male) </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Cryptorchidism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204878001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204878001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q53.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q53.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/752.51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">752.51</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0010417&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0010417</a>, <a href="https://bioportal.bioontology.org/search?q=C5441920&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5441920</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000028" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000028</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000028" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000028</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Kidneys </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Renal failure <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/42399005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">42399005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N19" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N19</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/586" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">586</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0035078&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0035078</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000083" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000083</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000083" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000083</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> SKELETAL </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Joint hypermobility <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 /> -
Osteomalacia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/4598005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">4598005</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/268.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">268.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3887650&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3887650</a>, <a href="https://bioportal.bioontology.org/search?q=C0029442&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0029442</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002749" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002749</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002749" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002749</a>]</span><br /> -
Renal rickets <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/16726004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">16726004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N25.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N25.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1527410&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1527410</a>]</span><br /> -
Pathologic fractures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22640007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22640007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/268029009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">268029009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M84.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M84.4</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/733.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">733.10</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/V13.51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">V13.51</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/733.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">733.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0016663&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0016663</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002756" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002756</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002756" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002756</a>]</span><br />
</span>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Spine </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Scoliosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/298382003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">298382003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/20944008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">20944008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/111266001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">111266001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M41.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q67.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q67.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0559260&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0559260</a>, <a href="https://bioportal.bioontology.org/search?q=C0036439&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036439</a>, <a href="https://bioportal.bioontology.org/search?q=C0700208&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0700208</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002650</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002650</a>]</span><br /> -
Kyphosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/71311003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">71311003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/414564002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">414564002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/413428007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">413428007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M40.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M40.20</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q76.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q76.41</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/737.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">737.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0265673&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0265673</a>, <a href="https://bioportal.bioontology.org/search?q=C0022821&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022821</a>, <a href="https://bioportal.bioontology.org/search?q=C2115817&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2115817</a>, <a href="https://bioportal.bioontology.org/search?q=C0022822&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022822</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002808" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002808</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002808" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002808</a>]</span><br /> -
Platyspondyly <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844704&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844704</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000926" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000926</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000926" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000926</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">
- Hip dislocation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/157265008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">157265008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/S73.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">S73.00</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/835" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">835</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0019554&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019554</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002827" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002827</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002827" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002827</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Limbs </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Genu valgum <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/299330008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">299330008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/52012001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">52012001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M21.06" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M21.06</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/736.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">736.41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0158484&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0158484</a>, <a href="https://bioportal.bioontology.org/search?q=C0576093&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0576093</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002857" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002857</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002857" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002857</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Hands </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Finger swelling <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/299060006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">299060006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0239598&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0239598</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0025131" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0025131</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0025131" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0025131</a>]</span><br /> -
Wrist swelling <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241760&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241760</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001225" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001225</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001225" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001225</a>]</span><br /> -
Tenosynovitis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/67801009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">67801009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0039520&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0039520</a>]</span><br /> -
Flexion contractures of the digits <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839864&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839864</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030044" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030044</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">
- Sebaceous cysts (buttocks and perineum) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839871&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839871</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/418630001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">418630001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/419603000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">419603000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/399999000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">399999000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/419893006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">419893006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/418323001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">418323001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/417992006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">417992006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/419670003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">419670003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K09.8" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K09.8</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/L72.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L72.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/L72.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L72.3</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/706.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">706.2</a>]</span><br /> -
Subcutaneous nodules (fingers) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0239597&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0239597</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95325000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95325000</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001482" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001482</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> NEUROLOGIC </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Central Nervous System </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Neonatal hypotonia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/240080003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">240080003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/205294008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">205294008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/33010005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">33010005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/P94.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">P94.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0343239&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0343239</a>, <a href="https://bioportal.bioontology.org/search?q=C0270971&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0270971</a>, <a href="https://bioportal.bioontology.org/search?q=C2267233&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2267233</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001319" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001319</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001319" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001319</a>]</span><br /> -
Areflexia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/37280007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">37280007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0234146&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234146</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001284" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001284</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001284" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001284</a>]</span><br /> -
Mental retardation (in some) <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 (50% of patients) <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 /> -
Ventriculomegaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/413808003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">413808003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1531647&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1531647</a>, <a href="https://bioportal.bioontology.org/search?q=C3278923&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3278923</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002119" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002119</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002119" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002119</a>]</span><br /> -
Increased signal intensity on T(2)-weighted scans in the periventricular and centrum ovale area <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839857&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839857</a>]</span><br /> -
Periventricular cysts <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839858&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839858</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007109" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007109</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007109" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007109</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Behavioral Psychiatric Manifestations </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Stereotypic behaviors (tantrums, aggressiveness) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839859&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839859</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/84328007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">84328007</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> METABOLIC FEATURES </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Proximal renal tubular acidosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/24790002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">24790002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0268435&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0268435</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002049" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002049</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002049" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002049</a>]</span><br /> -
Renal Fanconi syndrome <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/236466005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">236466005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/236468006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">236468006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/61598006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">61598006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857395&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857395</a>, <a href="https://bioportal.bioontology.org/search?q=C0341703&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0341703</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001994" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001994</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001994" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001994</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> PRENATAL MANIFESTATIONS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Amniotic Fluid </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Elevated amniotic fluid alpha-fetoprotein <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839860&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839860</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004639" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004639</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004639" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004639</a>]</span><br /> -
Elevated maternal serum alpha-fetoprotein <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4023361&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4023361</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011432" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011432</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011432" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011432</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">
- Bicarbonaturia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839865&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839865</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003646" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003646</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003646" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003646</a>]</span><br /> -
Aminoaciduria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/35912001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">35912001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0238621&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0238621</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003355" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003355</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003355" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003355</a>]</span><br /> -
Proteinuria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/29738008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">29738008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/231860006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">231860006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R80.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R80.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R80" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R80</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/791.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">791.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1279888&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1279888</a>, <a href="https://bioportal.bioontology.org/search?q=C0033687&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0033687</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000093" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000093</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000093" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000093</a>]</span><br /> -
Phosphaturia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22450000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22450000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/85487008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">85487008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0268079&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0268079</a>, <a href="https://bioportal.bioontology.org/search?q=C0282201&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0282201</a>, <a href="https://bioportal.bioontology.org/search?q=C0948023&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0948023</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003109" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003109</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003109" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003109</a>]</span><br /> -
Elevated serum acid phosphatase <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839866&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839866</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003148" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003148</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003148" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003148</a>]</span><br /> -
Elevated serum protein <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839867&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839867</a>]</span><br /> -
Abnormal serum protein electrophoresis (elevated alpha-2 band) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839868&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839868</a>]</span><br /> -
Elevated total cholesterol <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/13644009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">13644009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020443&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020443</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003124" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003124</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003124" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003124</a>]</span><br /> -
Deficiency of phosphatidylinositol (4,5) bisphosphate 5-phosphatase (PtdIns(4,5)P(2) 5-phosphatase) in cultured fibroblasts <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2748938&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2748938</a>]</span><br />
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- The majority of female heterozygotes reveal ophthalmologic abnormalities - multiple, micropunctate, gray lens opacities or single, dense posterior cataract<br />
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- Caused by mutation in the OCRL inositol polyphosphate-5-phosphatase gene (OCRL1, <a href="/entry/300535#0001">300535.0001</a>)<br />
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<p>A number sign (#) is used with this entry because Lowe oculocerebrorenal syndrome (OCRL) is caused by mutation in the OCRL gene (<a href="/entry/300535">300535</a>) on chromosome Xq26.</p><p>Also see Dent disease-2 (<a href="/entry/300555">300555</a>), an allelic disorder with a less severe phenotype.</p>
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<p>Lowe oculocerebrorenal syndrome (OCRL) is a rare X-linked multisystemic disorder characterized by the triad of congenital cataracts, severely impaired intellectual development, and renal tubular dysfunction with slowly progressive renal failure. Other features include postnatal growth retardation independent of kidney function, areflexia, nontender joint swelling, subcutaneous nodules, and arthropathy, which can be observed in about 50% of adult patients (review by <a href="#4" class="mim-tip-reference" title="Bokenkamp, A., Ludwig, M. &lt;strong&gt;The oculocerebrorenal syndrome of Lowe: an update.&lt;/strong&gt; Pediat. Nephrol. 31: 2201-2202, 2016.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/27011217/&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;27011217&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s00467-016-3343-3&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="27011217">Bokenkamp and Ludwig, 2016</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27011217" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The features of Lowe syndrome are hydrophthalmia, cataract, mental retardation, vitamin D-resistant rickets, amino aciduria, and reduced ammonia production by the kidney. Hyporeflexia and hypotonia are usual features, and 'ragged red fiber' muscle pathology has been described (<a href="#3" class="mim-tip-reference" title="Bailey, L. C., Jr., Olivos, I. M., Leahey, A. M., Attree, O. F., Okabe, I., Lewis, R. A., MacInnes, R. R., Spinner, N. B., Nelson, D. L., Nussbaum, R. L. &lt;strong&gt;Characterization of a candidate gene for OCRL. (Abstract)&lt;/strong&gt; Am. J. Hum. Genet. 51 (suppl.): A4 only, 1992."None>Bailey et al., 1992</a>).</p><p><a href="#6" class="mim-tip-reference" title="Charnas, L. R., Bernardini, I., Rader, D., Hoeg, J. M., Gahl, W. A. &lt;strong&gt;Clinical and laboratory findings in the oculocerebrorenal syndrome of Lowe, with special reference to growth and renal function.&lt;/strong&gt; New Eng. J. Med. 324: 1318-1325, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2017228/&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;2017228&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJM199105093241904&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="2017228">Charnas et al. (1991)</a> investigated 23 patients with Lowe syndrome who ranged in age from 4 months to 31 years. Linear growth decreased after 1 year of age; bone age was found to lie between chronologic age and height age. Renal dysfunction, characterized by proteinuria, generalized amino aciduria, carnitine wasting, and phosphaturia, occurred in the first year of life. Urinary wasting of individual amino acids was milder than in cystinosis (see <a href="/entry/219800">219800</a>), and branched-chain amino acids were relatively spared. Reciprocal serum creatinine levels fell linearly with age, predicting renal failure in the fourth decade. In the blood, concentrations of the muscle enzymes creatine kinase, aspartate aminotransferase, and lactate dehydrogenase, as well as those of total serum protein, serum alpha-2-globulin, and high-density lipoprotein cholesterol, were elevated. Most patients required alkalinization therapy and many benefited from supplemental potassium, phosphate, calcium, and carnitine. The serum enzyme elevations suggested muscle involvement. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2017228" 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="#16" class="mim-tip-reference" title="Kenworthy, L., Park, T., Charnas, L. R. &lt;strong&gt;Cognitive and behavioral profile of the oculocerebrorenal syndrome of Lowe.&lt;/strong&gt; Am. J. Med. Genet. 46: 297-303, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8488875/&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;8488875&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320460312&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="8488875">Kenworthy et al. (1993)</a> reviewed IQ and behavior in 47 affected males. Mean IQ was in the moderate to mental retardation range (40-54), with 25% of tested individuals in the normal range (IQ = 70 or more). More than 80% had maladaptive behaviors, particularly stubbornness, temper tantrums, and stereotypic behaviors. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8488875" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#22" class="mim-tip-reference" title="Matsuda, I., Takeda, T., Sugai, M., Matsuura, N. &lt;strong&gt;Oculocerebrorenal syndrome.&lt;/strong&gt; Am. J. Dis. Child. 117: 205-212, 1969.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5763831/&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;5763831&lt;/a&gt;]" pmid="5763831">Matsuda et al. (1969)</a> described a Japanese boy with typical clinical features of Lowe syndrome, but the metabolic acidosis was shown to be due to failure of bicarbonate reabsorption rather than of urinary acidification. The proband's father showed amino aciduria after ornithine loading. <a href="#21" class="mim-tip-reference" title="Matsuda, I., Sugai, M., Kajii, T. &lt;strong&gt;Ornithine loading test in Lowe&#x27;s syndrome.&lt;/strong&gt; J. Pediat. 77: 127-129, 1970.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5465360/&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;5465360&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0022-3476(70)80057-9&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="5465360">Matsuda et al. (1970)</a> proposed that this is a special type of Lowe syndrome that may have autosomal recessive inheritance. They suggested that the cases described by <a href="#26" class="mim-tip-reference" title="Oetliker, O., Rossi, E. &lt;strong&gt;The influence of extracellular fluid volume on the renal bicarbonate threshold: a study of two children with Lowe&#x27;s syndrome.&lt;/strong&gt; Pediat. Res. 3: 140-148, 1969.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4889408/&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;4889408&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1203/00006450-196903000-00006&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="4889408">Oetliker and Rossi (1969)</a> were of this type. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5763831+4889408+5465360" 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>Although there is a wide range of intellectual function in affected individuals, it is often compromised by a high prevalence of maladaptive behaviors, including tantrums, stubbornness, and stereotypy (complex repetitive behaviors). <a href="#15" class="mim-tip-reference" title="Kenworthy, L., Charnas, L. &lt;strong&gt;Evidence for a discrete behavioral phenotype in the oculocerebrorenal syndrome of Lowe.&lt;/strong&gt; Am. J. Med. Genet. 59: 283-290, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8599350/&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;8599350&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320590304&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="8599350">Kenworthy and Charnas (1995)</a> conducted a study to determine whether these behaviors simply reflect the multiple disabilities found in developmentally impaired individuals with or without OCRL or represent a specific genetically determined behavioral phenotype of OCRL. Forty-three cases of OCRL were paired with 43 controls matched for age, sex, visual impairment, and adaptive functioning. Individuals with OCRL displayed significantly more severe maladaptive behaviors than controls. Discriminate function analysis identified 5 behaviors as significantly distinguishing between controls and OCRL individuals: temper tantrums, irritability, stereotypy/mannerisms, obsessions/unusual preoccupations, and negativism. These behavioral features may be a specific effect of the OCRL gene on the central nervous system. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8599350" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Gropman, A., Levin, S., Yao, L., Lin, T., Suchy, S., Sabnis, S., Hadley, D., Nussbaum, R. &lt;strong&gt;Unusual renal features of Lowe syndrome in a mildly affected boy.&lt;/strong&gt; Am. J. Med. Genet. 95: 461-466, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11146467/&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;11146467&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/1096-8628(20001218)95:5&lt;461::aid-ajmg10&gt;3.0.co;2-d&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="11146467">Gropman et al. (2000)</a> described a mildly affected boy with a diagnosis of Lowe syndrome, confirmed by enzymatic activity of skin fibroblasts, in whom there was a history of congenital cataracts and mild developmental delay and who had hematuria with proteinuria but minimal signs of renal tubular dysfunction. Renal biopsy was compatible with the diagnosis of noncomplement fixating chronic glomerulonephritis. Thus, OCRL should be considered in boys with cataracts and glomerular disease, even in the absence of renal tubular defects and frank mental retardation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11146467" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Dumic, K. K., Anticevic, D., Petrinovic-Doresic, J., Zigman, T., Zarkovic, K., Rokic, F., Vugrek, O. &lt;strong&gt;Lowe syndrome--old and new evidence of secondary mitochondrial dysfunction.&lt;/strong&gt; Europ. J. Med. Genet. 63: 104022, 2020.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/32712215/&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;32712215&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ejmg.2020.104022&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="32712215">Dumic et al. (2020)</a> reported a 4.5-year-old boy with Lowe syndrome. The patient had generalized hypotonia, absent deep tendon reflexes and congenital cataracts at 9 days of life. Laboratory testing showed elevated creatine kinase (CK) and lactate dehydrogenase (LDH). At 3 months of age, he had surgery for cataracts and glaucoma. He developed infantile spasms and was treated with vigabatrin. At the age of 13 months, he had severely delayed psychomotor development, hypotonia, absent deep tendon reflexes, and increased joint laxity. Laboratory testing showed low serum phosphate and elevated CK, LDH, and AST. Urinalysis showed generalized aminoaciduria, proteinuria, and high normal urinary excretion of phosphate and calcium. Examination of skin, muscle tissue, and sural nerve by electron microscopy demonstrated swollen mitochondria and disrupted mitochondrial cristae. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32712215" 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>Carrier Females</em></strong></p><p>
By slit-lamp examination, <a href="#30" class="mim-tip-reference" title="Richards, W., Donnell, G. N., Wilson, W. A., Stowens, D., Perry, T. &lt;strong&gt;The oculo-cerebro-renal syndrome of Lowe.&lt;/strong&gt; Am. J. Dis. Child. 109: 185-203, 1965.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14246065/&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;14246065&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/archpedi.1965.02090020187001&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="14246065">Richards et al. (1965)</a> found lens opacities in heterozygotes. Mild 'snowflake' lenticular opacities in carrier females were described by <a href="#20" class="mim-tip-reference" title="Martin, V. A. F., Carson, N. A. J. &lt;strong&gt;Inborn metabolic disorders with associated ocular lesions in Northern Ireland.&lt;/strong&gt; Trans. Ophthal. Soc. U.K. 87: 847-870, 1967.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5255262/&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;5255262&lt;/a&gt;]" pmid="5255262">Martin and Carson (1967)</a> and by <a href="#10" class="mim-tip-reference" title="Gardner, R. J. M., Brown, N. &lt;strong&gt;Lowe&#x27;s syndrome: identification of carriers by lens examination.&lt;/strong&gt; J. Med. Genet. 13: 449-464, 1976.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1018304/&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;1018304&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.13.6.449&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="1018304">Gardner and Brown (1976)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1018304+5255262+14246065" 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>Amino aciduria in the mother of a patient, after loading with ornithine, was reported as a heterozygote manifestation by <a href="#7" class="mim-tip-reference" title="Chutorian, A., Rowland, L. P. &lt;strong&gt;Lowe&#x27;s syndrome.&lt;/strong&gt; Neurology 16: 115-122, 1966.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5948500/&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;5948500&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/wnl.16.2_part_1.115&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="5948500">Chutorian and Rowland (1966)</a>; a high incidence of maternal cataract had been noted. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5948500" 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>Affected Females</em></strong></p><p>
<a href="#36" class="mim-tip-reference" title="Svorc, J., Masopust, J., Komarkova, A., Macek, M., Hyanek, J. &lt;strong&gt;Oculocerebrorenal syndrome in a female child.&lt;/strong&gt; Am. J. Dis. Child. 114: 186-190, 1967.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4951545/&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;4951545&lt;/a&gt;]" pmid="4951545">Svorc et al. (1967)</a> described an affected female child and referred to 2 others in the literature. Such cases may have a different genetic mechanism than X-linkage or may represent infelicitous lyonization in heterozygous females. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4951545" 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="Harris, L. S., Gitter, K. A., Galin, M. A., Plechaty, G. P. &lt;strong&gt;Oculo-cerebro-renal syndrome: report of a case in a baby girl.&lt;/strong&gt; Brit. J. Ophthal. 54: 278-280, 1970.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5428659/&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;5428659&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/bjo.54.4.278&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="5428659">Harris et al. (1970)</a>, <a href="#14" class="mim-tip-reference" title="Hodgson, S. V., Heckmatt, J. Z., Hughes, E., Crolla, J. A., Dubowitz, V., Bobrow, M. &lt;strong&gt;A balanced de novo X/autosome translocation in a girl with manifestations of Lowe syndrome.&lt;/strong&gt; Am. J. Med. Genet. 23: 837-847, 1986.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3953680/&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;3953680&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320230311&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="3953680">Hodgson et al. (1986)</a>, and <a href="#24" class="mim-tip-reference" title="Mueller, O. T., Hartsfield, J. K., Jr., Gallardo, L. A., Essig, Y.-P., Miller, K. L., Papenhausen, P. R., Tedesco, T. A. &lt;strong&gt;Lowe oculocerebrorenal syndrome in a female with a balanced X;20 translocation: mapping of the X chromosome breakpoint.&lt;/strong&gt; Am. J. Hum. Genet. 49: 804-810, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1897526/&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;1897526&lt;/a&gt;]" pmid="1897526">Mueller et al. (1991)</a> each reported female patients with Lowe syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1897526+5428659+3953680" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Cau, M., Addis, M., Congiu, R., Meloni, C., Cao, A., Santaniello, S., Loi, M., Emma, F., Zuffardi, O., Ciccone, R., Sole, G., Melis, M. A. &lt;strong&gt;A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome.&lt;/strong&gt; J. Hum. Genet. 51: 1030-1036, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16955230/&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;16955230&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s10038-006-0049-6&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="16955230">Cau et al. (2006)</a> reported a young woman with classic Lowe syndrome caused by a de novo OCRL mutation in the active paternal X chromosome. Studies showed extremely skewed X inactivation (100:0) of the maternal chromosome. Family studies found 5 of 7 unaffected females with extremely skewed X-inactivation of the maternal chromosome transmitted the disorder as an X-linked dominant trait (<a href="/entry/300179">300179</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16955230" 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>Because of the allelic heterogeneity exhibited by the OCRL gene, prenatal diagnosis by molecular analysis is limited to families in which the mutation is already known or in which linkage is informative. <a href="#34" class="mim-tip-reference" title="Suchy, S. F., Lin, T., Horwitz, J. A., O&#x27;Brien, W. E., Nussbaum, R. L. &lt;strong&gt;First report of prenatal biochemical diagnosis of Lowe syndrome.&lt;/strong&gt; Prenatal Diag. 18: 1117-1121, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9854717/&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;9854717&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(sici)1097-0223(199811)18:11&lt;1117::aid-pd413&gt;3.0.co;2-q&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="9854717">Suchy et al. (1998)</a> sought a more generally applicable diagnostic test based on biochemical testing. They reported for the first time prenatal diagnosis for Lowe syndrome by measuring phosphatidylinositol 4,5-bisphosphate 5-phosphatase activity in cultured amniocytes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9854717" 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>Carrier Females</em></strong></p><p>
To determine the sensitivity and specificity of ocular examination for the carrier state of Lowe syndrome in females known to be either carriers or noncarriers by direct DNA analysis, <a href="#17" class="mim-tip-reference" title="Lin, T., Lewis, R. A., Nussbaum, R. L. &lt;strong&gt;Molecular confirmation of carriers for Lowe syndrome.&lt;/strong&gt; Ophthalmology 106: 119-122, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9917791/&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;9917791&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/S0161-6420(99)90012-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="9917791">Lin et al. (1999)</a> studied 31 females at risk for carrying Lowe syndrome in 3 families. Slit-lamp biomicroscopy after pupillary dilation was performed by a single observer who was uninformed as to the carrier status of the women examined. Adult carrier women had small, irregularly-shaped, off-white, nonrefractile, radially arrayed, peripheral cortical lens opacities. No false-positives were found among the 31 females examined. Only one false-negative was found in a 5-year-old girl. <a href="#17" class="mim-tip-reference" title="Lin, T., Lewis, R. A., Nussbaum, R. L. &lt;strong&gt;Molecular confirmation of carriers for Lowe syndrome.&lt;/strong&gt; Ophthalmology 106: 119-122, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9917791/&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;9917791&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/S0161-6420(99)90012-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="9917791">Lin et al. (1999)</a> concluded that slit-lamp examination is a highly accurate and sensitive test for carrier detection in Lowe syndrome, particularly in women of reproductive age. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9917791" 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>Lowe syndrome cells have an elevated concentration of phosphatidylinositol 4,5-bisphosphate, the substrate for the OCRL protein (<a href="/entry/300535">300535</a>) (<a href="#41" class="mim-tip-reference" title="Zhang, X., Hartz, P. A., Philip, E., Rascusen, L. C., Majerus, P. W. &lt;strong&gt;Cell lines from kidney proximal tubules of a patient with Lowe syndrome lack OCRL inositol polyphosphate 5-phosphatase and accumulate phosphatidylinositol 4,5-bisphosphate.&lt;/strong&gt; J. Biol. Chem. 273: 1574-1582, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9430698/&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;9430698&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1074/jbc.273.3.1574&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="9430698">Zhang et al., 1998</a>). <a href="#35" class="mim-tip-reference" title="Suchy, S. F., Nussbaum, R. L. &lt;strong&gt;The deficiency of PIP(2) 5-phosphatase in Lowe syndrome affects actin polymerization.&lt;/strong&gt; Am. J. Hum. Genet. 71: 1420-1427, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12428211/&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;12428211&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=12428211[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/10.1086/344517&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="12428211">Suchy and Nussbaum (2002)</a> demonstrated a reproducible cellular abnormality of the actin cytoskeleton in fibroblasts from patients with Lowe syndrome. They also demonstrated an abnormal distribution of gelsolin (GSN; <a href="/entry/137350">137350</a>) and alpha-actinin (see <a href="/entry/102575">102575</a>), actin-binding proteins regulated by both phosphatidylinositol 4,5-bisphosphate and calcium that would be expected to be altered in Lowe cells. Actin polymerization plays a key role in the formation, maintenance, and proper function of tight junctions and adherens junctions, which have been demonstrated to be critical in renal proximal tubule function, and in the differentiation of the lens. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12428211+9430698" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#33" class="mim-tip-reference" title="Streiff, E. B., Straub, W., Golay, L. &lt;strong&gt;Les manifestations oculaires du syndrome de Lowe.&lt;/strong&gt; Ophthalmologica 135: 632-639, 1958.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/13553275/&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;13553275&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1159/000303367&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="13553275">Streiff et al. (1958)</a> suggested X-linkage of Lowe syndrome because all cases were male and affected brothers had been described. In 1 case, 2 brothers and a cousin (the mothers were sisters) were affected. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13553275" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#13" class="mim-tip-reference" title="Hittner, H. M., Carroll, A. J., Prchal, J. T. &lt;strong&gt;Linkage studies in carriers of Lowe oculo-cerebro-renal syndrome.&lt;/strong&gt; Am. J. Hum. Genet. 34: 966-971, 1982.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7180850/&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;7180850&lt;/a&gt;]" pmid="7180850">Hittner et al. (1982)</a> concluded that the Lowe syndrome is not closely linked to either G6PD (<a href="/entry/305900">305900</a>) or Xg (<a href="/entry/314700">314700</a>). They studied a family with 2 affected males. On the basis of lenticular opacities, all 3 females in the pedigree were found to be carriers; each had 1 son--2 affected and 1 unaffected. At least 1 recombination between G6PD and Lowe syndrome and at least 2 between Xg and Lowe syndrome were observed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7180850" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#14" class="mim-tip-reference" title="Hodgson, S. V., Heckmatt, J. Z., Hughes, E., Crolla, J. A., Dubowitz, V., Bobrow, M. &lt;strong&gt;A balanced de novo X/autosome translocation in a girl with manifestations of Lowe syndrome.&lt;/strong&gt; Am. J. Med. Genet. 23: 837-847, 1986.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3953680/&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;3953680&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320230311&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="3953680">Hodgson et al. (1986)</a> found a seemingly balanced X/autosome translocation, t(X;3)(q25;q27), in a girl with Lowe syndrome. (The patient had inherited a translocation, t(14;17)(q24;q23), from the normal father.) By reasoning parallel to that applied to Duchenne muscular dystrophy and several other X-linked disorders, <a href="#14" class="mim-tip-reference" title="Hodgson, S. V., Heckmatt, J. Z., Hughes, E., Crolla, J. A., Dubowitz, V., Bobrow, M. &lt;strong&gt;A balanced de novo X/autosome translocation in a girl with manifestations of Lowe syndrome.&lt;/strong&gt; Am. J. Med. Genet. 23: 837-847, 1986.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3953680/&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;3953680&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320230311&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="3953680">Hodgson et al. (1986)</a> suggested that the Lowe syndrome locus is in band Xq25. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3953680" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By molecular linkage analysis of 4 extensively affected families, <a href="#31" class="mim-tip-reference" title="Silver, D. N., Lewis, R. A., Ledbetter, D. H., Bobrow, M., Nussbaum, R. L. &lt;strong&gt;Identification of tightly-linked flanking markers for Lowe syndrome. (Abstract)&lt;/strong&gt; Cytogenet. Cell Genet. 46: 692 only, 1987."None>Silver et al. (1987)</a> found close linkage of OCRL to RFLPs that map to Xq24-q26, thus confirming the conclusion from the X/autosome translocation. For DXS10, the maximum lod was 6.450 at theta = 0.00; for DXS42, the maximum lod was 5.087 at theta = 0.00. <a href="#28" class="mim-tip-reference" title="Reilly, D. S., Lewis, R. A., Ledbetter, D. H., Nussbaum, R. L. &lt;strong&gt;Tightly linked flanking markers for the Lowe oculocerebrorenal syndrome, with application to carrier assessment.&lt;/strong&gt; Am. J. Hum. Genet. 42: 748-755, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2895982/&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;2895982&lt;/a&gt;]" pmid="2895982">Reilly et al. (1988)</a> showed linkage of OCRL to other markers in the Xq25 region. Furthermore, they used the Xq25 breakpoint in the patient reported by <a href="#14" class="mim-tip-reference" title="Hodgson, S. V., Heckmatt, J. Z., Hughes, E., Crolla, J. A., Dubowitz, V., Bobrow, M. &lt;strong&gt;A balanced de novo X/autosome translocation in a girl with manifestations of Lowe syndrome.&lt;/strong&gt; Am. J. Med. Genet. 23: 837-847, 1986.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3953680/&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;3953680&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320230311&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="3953680">Hodgson et al. (1986)</a> to determine the position of OCRL relative to linked markers. Each derivative chromosome was isolated away from its normal counterpart in somatic cell hybrids. Marker DXS10, which showed 3% recombination with OCRL, stayed with the X chromosome and is therefore proximal to q25, whereas DXS42, which showed no recombination with OCRL, mapped to the derivative chromosome 3. Thus, these are flanking markers which should be useful in carrier determination. Indeed, when compared with carrier detection by ophthalmologic examination, slit-lamp examination proved to be a sensitive and specific method of carrier determination in many cases. By genetic and physical mapping, <a href="#29" class="mim-tip-reference" title="Reilly, D. S., Lewis, R. A., Nussbaum, R. L. &lt;strong&gt;Genetic and physical mapping of Xq24-q26 markers flanking the Lowe oculocerebrorenal syndrome.&lt;/strong&gt; Genomics 8: 62-70, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2081601/&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;2081601&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0888-7543(90)90226-k&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="2081601">Reilly et al. (1990)</a> further ordered markers in the Xq24-q26 region. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2081601+3953680+2895982" 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="#38" class="mim-tip-reference" title="Wadelius, C., Fagerholm, P., Pettersson, U., Anneren, G. &lt;strong&gt;Lowe oculocerebrorenal syndrome: DNA-based linkage of the gene to Xq24-q26, using tightly linked flanking markers and the correlation to lens examination in carrier diagnosis.&lt;/strong&gt; Am. J. Hum. Genet. 44: 241-247, 1989.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2912070/&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;2912070&lt;/a&gt;]" pmid="2912070">Wadelius et al. (1989)</a> found that DXS42 was the most closely linked marker, giving a lod score of 3.12 at theta = 0.0. They also found that lens examination with slit-lamp illumination and a count of the total number of lenticular opacities is a reliable method of ascertaining the carrier state. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2912070" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#25" class="mim-tip-reference" title="Nelson, D. L., Ballabio, A., Victoria, M. F., Pieretti, M., Bies, R. D., Gibbs, R. A., Maley, J. A., Chinault, A. C., Webster, T. D., Caskey, C. T. &lt;strong&gt;Alu-primed polymerase chain reaction for regional assignment of 110 yeast artificial chromosome clones from the human X chromosome: identification of clones associated with a disease locus.&lt;/strong&gt; Proc. Nat. Acad. Sci. 88: 6157-6161, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2068096/&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;2068096&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1073/pnas.88.14.6157&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="2068096">Nelson et al. (1991)</a> identified 3 overlapping YAC clones that crossed a chromosomal translocation implicated in Lowe syndrome. <a href="#24" class="mim-tip-reference" title="Mueller, O. T., Hartsfield, J. K., Jr., Gallardo, L. A., Essig, Y.-P., Miller, K. L., Papenhausen, P. R., Tedesco, T. A. &lt;strong&gt;Lowe oculocerebrorenal syndrome in a female with a balanced X;20 translocation: mapping of the X chromosome breakpoint.&lt;/strong&gt; Am. J. Hum. Genet. 49: 804-810, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1897526/&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;1897526&lt;/a&gt;]" pmid="1897526">Mueller et al. (1991)</a> localized the X-chromosome breakpoint at q26.1 in a female patient with Lowe syndrome and a balanced X;20 translocation. They found that DXS10 and DXS53 were distal to the breakpoint, whereas DXS37 and DXS42 were located proximal to it. The translocation chromosome originated de novo from the unaffected father. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1897526+2068096" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#4" class="mim-tip-reference" title="Bokenkamp, A., Ludwig, M. &lt;strong&gt;The oculocerebrorenal syndrome of Lowe: an update.&lt;/strong&gt; Pediat. Nephrol. 31: 2201-2202, 2016.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/27011217/&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;27011217&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s00467-016-3343-3&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="27011217">Bokenkamp and Ludwig (2016)</a> stated that the prevalence of Lowe syndrome has been estimated to be 1 in 500,000 in the general population. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27011217" 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>For a discussion of the molecular genetics of Lowe oculocerebrorenal syndrome, see the entry for the OCRL gene (<a href="/entry/300535">300535</a>).</p>
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<p><a href="#23" class="mim-tip-reference" title="McCance, R. A., Matheson, W. J., Gresham, G. A., Elkinton, J. R. &lt;strong&gt;The cerebro-ocular-renal dystrophies: a new variant.&lt;/strong&gt; Arch. Dis. Child. 35: 240-249, 1960.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21032365/&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;21032365&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/adc.35.181.240&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="21032365">McCance et al. (1960)</a> described a condition that is probably distinct from Lowe syndrome but may also be X-linked since their subjects were 2 brothers with unrelated, unaffected parents. Features were poor appetite, failure to grow, corneal opacities, partial blindness, nystagmus, mental retardation, intention tremor, hyperchloremic acidosis, very acid urine, defect in urinary production of ammonium ion, death from progressive renal failure, underdeveloped glomeruli, structural abnormalities in the brain, and absence of testes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21032365" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#Acker1967" class="mim-tip-reference" title="Acker, K. J., Roels, H., Beelaerts, W., Pasternack, A., Valcke, R. &lt;strong&gt;The histologic lesions of the kidney in the oculo-cerebro-renal syndrome of Lowe.&lt;/strong&gt; Nephron 4: 193-214, 1967.">Acker et al. (1967)</a>; <a href="#Auricchio1961" class="mim-tip-reference" title="Auricchio, S., Frischknecht, W., Shmerling, D. H. &lt;strong&gt;Primare Tubulopathien. III. Ein Fall von oculo-cerebro-renalem Syndrom (Lowe-Syndrome).&lt;/strong&gt; Helv. Paediat. Acta 16: 647-655, 1961.">Auricchio et al. (1961)</a>; <a href="#Delleman1977" class="mim-tip-reference" title="Delleman, J. W., Bleeker-Wagemakers, E. M., van Veelen, A. W. C. &lt;strong&gt;Opacities of the lens indicating carrier status in the oculo-cerebro-renal (Lowe) syndrome.&lt;/strong&gt; J. Pediat. Ophthal. 14: 205-212, 1977.">Delleman et al. (1977)</a>; <a href="#Lowe1952" class="mim-tip-reference" title="Lowe, C. U., Terrey, M., MacLachlan, E. A. &lt;strong&gt;Organic-aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation.&lt;/strong&gt; Am. J. Dis. Child. 83: 164-184, 1952.">Lowe et al. (1952)</a>; <a href="#Lowe1960" class="mim-tip-reference" title="Lowe, C. U. &lt;strong&gt;Oculo-cerebral-renal syndrome.&lt;/strong&gt; Maandschr. Kindergeneesk. 28: 77-80, 1960.">Lowe (1960)</a>; <a href="#Pallisgaard1971" class="mim-tip-reference" title="Pallisgaard, G., Goldschmidt, E. &lt;strong&gt;The oculo-cerebro-renal syndrome of Lowe in four generations of one family.&lt;/strong&gt; Acta Paediat. Scand. 60: 146-148, 1971.">Pallisgaard and Goldschmidt (1971)</a>; <a href="#Silver1987" class="mim-tip-reference" title="Silver, D. N., Lewis, R. A., Nussbaum, R. L. &lt;strong&gt;Mapping the Lowe oculocerebrorenal syndrome to Xq24-q26 by use of restriction fragment length polymorphisms.&lt;/strong&gt; J. Clin. Invest. 79: 282-285, 1987.">Silver et al. (1987)</a>; <a href="#Tripathi1982" class="mim-tip-reference" title="Tripathi, R., Cibis, G. W., Harris, D. J., Tripathi, B. &lt;strong&gt;Lowe&#x27;s syndrome.&lt;/strong&gt; Birth Defects Orig. Art. Ser. 18(6): 629-644, 1982.">Tripathi et al. (1982)</a>; <a href="#Wilson1963" class="mim-tip-reference" title="Wilson, W. A., Richards, W., Donnell, G. N. &lt;strong&gt;Oculo-cerebral-renal syndrome of Lowe: a review of eight cases noting the genetic inheritance.&lt;/strong&gt; Arch. Ophthal. 70: 5-11, 1963.">Wilson et al. (1963)</a>; <a href="#Witzleben1968" class="mim-tip-reference" title="Witzleben, C. L., Schoen, E. J., Tu, W. H., McDonald, L. W. &lt;strong&gt;Progressive morphologic renal changes in the oculo-cerebro-renal syndrome of Lowe.&lt;/strong&gt; Am. J. Med. 44: 319-324, 1968.">Witzleben et al. (1968)</a>
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Acker, K. J., Roels, H., Beelaerts, W., Pasternack, A., Valcke, R.
<strong>The histologic lesions of the kidney in the oculo-cerebro-renal syndrome of Lowe.</strong>
Nephron 4: 193-214, 1967.
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<a id="Auricchio1961" class="mim-anchor"></a>
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Auricchio, S., Frischknecht, W., Shmerling, D. H.
<strong>Primare Tubulopathien. III. Ein Fall von oculo-cerebro-renalem Syndrom (Lowe-Syndrome).</strong>
Helv. Paediat. Acta 16: 647-655, 1961.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13863302/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13863302</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13863302" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Bailey, L. C., Jr., Olivos, I. M., Leahey, A. M., Attree, O. F., Okabe, I., Lewis, R. A., MacInnes, R. R., Spinner, N. B., Nelson, D. L., Nussbaum, R. L.
<strong>Characterization of a candidate gene for OCRL. (Abstract)</strong>
Am. J. Hum. Genet. 51 (suppl.): A4 only, 1992.
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<a id="Bokenkamp2016" class="mim-anchor"></a>
<div class="">
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<strong>The oculocerebrorenal syndrome of Lowe: an update.</strong>
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[<a href="https://doi.org/10.1007/s00467-016-3343-3" target="_blank">Full Text</a>]
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Cau, M., Addis, M., Congiu, R., Meloni, C., Cao, A., Santaniello, S., Loi, M., Emma, F., Zuffardi, O., Ciccone, R., Sole, G., Melis, M. A.
<strong>A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome.</strong>
J. Hum. Genet. 51: 1030-1036, 2006.
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[<a href="https://doi.org/10.1007/s10038-006-0049-6" target="_blank">Full Text</a>]
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Charnas, L. R., Bernardini, I., Rader, D., Hoeg, J. M., Gahl, W. A.
<strong>Clinical and laboratory findings in the oculocerebrorenal syndrome of Lowe, with special reference to growth and renal function.</strong>
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[<a href="https://doi.org/10.1056/NEJM199105093241904" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1212/wnl.16.2_part_1.115" target="_blank">Full Text</a>]
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Dumic, K. K., Anticevic, D., Petrinovic-Doresic, J., Zigman, T., Zarkovic, K., Rokic, F., Vugrek, O.
<strong>Lowe syndrome--old and new evidence of secondary mitochondrial dysfunction.</strong>
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[<a href="https://doi.org/10.1016/j.ejmg.2020.104022" target="_blank">Full Text</a>]
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<strong>Lowe's syndrome: identification of carriers by lens examination.</strong>
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[<a href="https://doi.org/10.1136/jmg.13.6.449" target="_blank">Full Text</a>]
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<a id="Gropman2000" class="mim-anchor"></a>
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<strong>Unusual renal features of Lowe syndrome in a mildly affected boy.</strong>
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[<a href="https://doi.org/10.1002/1096-8628(20001218)95:5&lt;461::aid-ajmg10&gt;3.0.co;2-d" target="_blank">Full Text</a>]
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<strong>Oculo-cerebro-renal syndrome: report of a case in a baby girl.</strong>
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[<a href="https://doi.org/10.1136/bjo.54.4.278" target="_blank">Full Text</a>]
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Hittner, H. M., Carroll, A. J., Prchal, J. T.
<strong>Linkage studies in carriers of Lowe oculo-cerebro-renal syndrome.</strong>
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<a id="Hodgson1986" class="mim-anchor"></a>
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Hodgson, S. V., Heckmatt, J. Z., Hughes, E., Crolla, J. A., Dubowitz, V., Bobrow, M.
<strong>A balanced de novo X/autosome translocation in a girl with manifestations of Lowe syndrome.</strong>
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[<a href="https://doi.org/10.1002/ajmg.1320230311" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320590304" target="_blank">Full Text</a>]
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Kenworthy, L., Park, T., Charnas, L. R.
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[<a href="https://doi.org/10.1002/ajmg.1320460312" target="_blank">Full Text</a>]
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Lin, T., Lewis, R. A., Nussbaum, R. L.
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[<a href="https://doi.org/10.1016/S0161-6420(99)90012-X" target="_blank">Full Text</a>]
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Lowe, C. U., Terrey, M., MacLachlan, E. A.
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[<a href="https://doi.org/10.1016/s0022-3476(70)80057-9" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/adc.35.181.240" target="_blank">Full Text</a>]
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<a id="Mueller1991" class="mim-anchor"></a>
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<p class="mim-text-font">
Mueller, O. T., Hartsfield, J. K., Jr., Gallardo, L. A., Essig, Y.-P., Miller, K. L., Papenhausen, P. R., Tedesco, T. A.
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<p class="mim-text-font">
Nelson, D. L., Ballabio, A., Victoria, M. F., Pieretti, M., Bies, R. D., Gibbs, R. A., Maley, J. A., Chinault, A. C., Webster, T. D., Caskey, C. T.
<strong>Alu-primed polymerase chain reaction for regional assignment of 110 yeast artificial chromosome clones from the human X chromosome: identification of clones associated with a disease locus.</strong>
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[<a href="https://doi.org/10.1073/pnas.88.14.6157" target="_blank">Full Text</a>]
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<strong>The influence of extracellular fluid volume on the renal bicarbonate threshold: a study of two children with Lowe's syndrome.</strong>
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[<a href="https://doi.org/10.1203/00006450-196903000-00006" target="_blank">Full Text</a>]
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<strong>The oculo-cerebro-renal syndrome of Lowe in four generations of one family.</strong>
Acta Paediat. Scand. 60: 146-148, 1971.
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[<a href="https://doi.org/10.1111/j.1651-2227.1971.tb06634.x" target="_blank">Full Text</a>]
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<a id="Reilly1988" class="mim-anchor"></a>
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Reilly, D. S., Lewis, R. A., Ledbetter, D. H., Nussbaum, R. L.
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<a id="Reilly1990" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Reilly, D. S., Lewis, R. A., Nussbaum, R. L.
<strong>Genetic and physical mapping of Xq24-q26 markers flanking the Lowe oculocerebrorenal syndrome.</strong>
Genomics 8: 62-70, 1990.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2081601/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2081601</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2081601" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/0888-7543(90)90226-k" target="_blank">Full Text</a>]
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<a id="30" class="mim-anchor"></a>
<a id="Richards1965" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Richards, W., Donnell, G. N., Wilson, W. A., Stowens, D., Perry, T.
<strong>The oculo-cerebro-renal syndrome of Lowe.</strong>
Am. J. Dis. Child. 109: 185-203, 1965.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14246065/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14246065</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14246065" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1001/archpedi.1965.02090020187001" target="_blank">Full Text</a>]
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<a id="31" class="mim-anchor"></a>
<a id="Silver1987" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Silver, D. N., Lewis, R. A., Ledbetter, D. H., Bobrow, M., Nussbaum, R. L.
<strong>Identification of tightly-linked flanking markers for Lowe syndrome. (Abstract)</strong>
Cytogenet. Cell Genet. 46: 692 only, 1987.
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<a id="32" class="mim-anchor"></a>
<a id="Silver1987" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Silver, D. N., Lewis, R. A., Nussbaum, R. L.
<strong>Mapping the Lowe oculocerebrorenal syndrome to Xq24-q26 by use of restriction fragment length polymorphisms.</strong>
J. Clin. Invest. 79: 282-285, 1987.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2878939/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2878939</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2878939" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1172/JCI112795" target="_blank">Full Text</a>]
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<a id="Streiff1958" class="mim-anchor"></a>
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Streiff, E. B., Straub, W., Golay, L.
<strong>Les manifestations oculaires du syndrome de Lowe.</strong>
Ophthalmologica 135: 632-639, 1958.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13553275/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13553275</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13553275" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1159/000303367" target="_blank">Full Text</a>]
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<a id="Suchy1998" class="mim-anchor"></a>
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Suchy, S. F., Lin, T., Horwitz, J. A., O'Brien, W. E., Nussbaum, R. L.
<strong>First report of prenatal biochemical diagnosis of Lowe syndrome.</strong>
Prenatal Diag. 18: 1117-1121, 1998.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9854717/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9854717</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9854717" 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)1097-0223(199811)18:11&lt;1117::aid-pd413&gt;3.0.co;2-q" target="_blank">Full Text</a>]
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<a id="Suchy2002" class="mim-anchor"></a>
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Suchy, S. F., Nussbaum, R. L.
<strong>The deficiency of PIP(2) 5-phosphatase in Lowe syndrome affects actin polymerization.</strong>
Am. J. Hum. Genet. 71: 1420-1427, 2002.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12428211/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12428211</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12428211[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=12428211" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1086/344517" target="_blank">Full Text</a>]
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<a id="Svorc1967" class="mim-anchor"></a>
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Svorc, J., Masopust, J., Komarkova, A., Macek, M., Hyanek, J.
<strong>Oculocerebrorenal syndrome in a female child.</strong>
Am. J. Dis. Child. 114: 186-190, 1967.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4951545/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4951545</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4951545" 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="37" class="mim-anchor"></a>
<a id="Tripathi1982" class="mim-anchor"></a>
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Tripathi, R., Cibis, G. W., Harris, D. J., Tripathi, B.
<strong>Lowe's syndrome.</strong>
Birth Defects Orig. Art. Ser. 18(6): 629-644, 1982.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6890859/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6890859</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6890859" 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="38" class="mim-anchor"></a>
<a id="Wadelius1989" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Wadelius, C., Fagerholm, P., Pettersson, U., Anneren, G.
<strong>Lowe oculocerebrorenal syndrome: DNA-based linkage of the gene to Xq24-q26, using tightly linked flanking markers and the correlation to lens examination in carrier diagnosis.</strong>
Am. J. Hum. Genet. 44: 241-247, 1989.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2912070/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2912070</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2912070" 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="39" class="mim-anchor"></a>
<a id="Wilson1963" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Wilson, W. A., Richards, W., Donnell, G. N.
<strong>Oculo-cerebral-renal syndrome of Lowe: a review of eight cases noting the genetic inheritance.</strong>
Arch. Ophthal. 70: 5-11, 1963.
</p>
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<a id="40" class="mim-anchor"></a>
<a id="Witzleben1968" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Witzleben, C. L., Schoen, E. J., Tu, W. H., McDonald, L. W.
<strong>Progressive morphologic renal changes in the oculo-cerebro-renal syndrome of Lowe.</strong>
Am. J. Med. 44: 319-324, 1968.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5635681/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5635681</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5635681" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/0002-9343(68)90163-0" target="_blank">Full Text</a>]
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<a id="41" class="mim-anchor"></a>
<a id="Zhang1998" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Zhang, X., Hartz, P. A., Philip, E., Rascusen, L. C., Majerus, P. W.
<strong>Cell lines from kidney proximal tubules of a patient with Lowe syndrome lack OCRL inositol polyphosphate 5-phosphatase and accumulate phosphatidylinositol 4,5-bisphosphate.</strong>
J. Biol. Chem. 273: 1574-1582, 1998.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9430698/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9430698</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9430698" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1074/jbc.273.3.1574" target="_blank">Full Text</a>]
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Hilary J. Vernon - updated : 06/22/2021
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Cassandra L. Kniffin - updated : 3/19/2007<br>Victor A. McKusick - updated : 1/21/2005<br>Victor A. McKusick - updated : 1/8/2003<br>Victor A. McKusick - updated : 2/26/2001<br>Victor A. McKusick - updated : 12/19/2000<br>Victor A. McKusick - updated : 8/31/2000<br>Jane Kelly - updated : 8/25/1999<br>Victor A. McKusick - updated : 6/28/1999<br>Victor A. McKusick - updated : 6/3/1999<br>Victor A. McKusick - updated : 2/1/1999<br>Victor A. McKusick - updated : 10/13/1998<br>Victor A. McKusick - updated : 7/29/1998<br>Victor A. McKusick - updated : 6/17/1997
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Creation Date:
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Victor A. McKusick : 6/4/1986
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carol : 08/12/2021
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carol : 06/22/2021<br>carol : 06/22/2021<br>carol : 04/24/2017<br>wwang : 04/02/2007<br>ckniffin : 3/19/2007<br>carol : 11/19/2005<br>alopez : 10/20/2005<br>terry : 9/12/2005<br>carol : 5/31/2005<br>terry : 4/21/2005<br>alopez : 4/19/2005<br>alopez : 4/18/2005<br>terry : 1/21/2005<br>mgross : 3/17/2004<br>terry : 5/15/2003<br>cwells : 1/13/2003<br>terry : 1/8/2003<br>mcapotos : 3/5/2001<br>mcapotos : 3/1/2001<br>terry : 2/26/2001<br>mcapotos : 1/4/2001<br>terry : 12/19/2000<br>mcapotos : 9/18/2000<br>mcapotos : 9/7/2000<br>terry : 8/31/2000<br>carol : 8/25/1999<br>carol : 7/9/1999<br>jlewis : 7/7/1999<br>terry : 6/28/1999<br>jlewis : 6/14/1999<br>jlewis : 6/9/1999<br>jlewis : 6/9/1999<br>terry : 6/3/1999<br>carol : 5/27/1999<br>carol : 2/3/1999<br>terry : 2/1/1999<br>carol : 10/18/1998<br>terry : 10/13/1998<br>carol : 8/3/1998<br>terry : 7/29/1998<br>terry : 6/23/1997<br>terry : 6/17/1997<br>mark : 12/20/1995<br>terry : 12/13/1995<br>terry : 12/13/1995<br>terry : 10/20/1995<br>mark : 6/19/1995<br>mimadm : 2/27/1994<br>carol : 5/18/1993<br>carol : 4/30/1993<br>carol : 11/19/1992
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<h3>
<span class="mim-font">
<strong>#</strong> 309000
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<span class="mim-font">
LOWE OCULOCEREBRORENAL SYNDROME; OCRL
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<em>Alternative titles; symbols</em>
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<span class="mim-font">
OCRL1<br />
LOWE SYNDROME<br />
PHOSPHATIDYLINOSITOL 4,5-BISPHOSPHATE 5-PHOSPHATASE DEFICIENCY
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<span class="mim-text-font">
<strong>SNOMEDCT:</strong> 79385002; &nbsp;
<strong>ICD10CM:</strong> E72.03; &nbsp;
<strong>ORPHA:</strong> 534; &nbsp;
<strong>DO:</strong> 1056; &nbsp;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<span class="mim-font">
Xq26.1
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<span class="mim-font">
Lowe syndrome
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309000
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X-linked recessive
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3
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OCRL
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300535
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because Lowe oculocerebrorenal syndrome (OCRL) is caused by mutation in the OCRL gene (300535) on chromosome Xq26.</p><p>Also see Dent disease-2 (300555), an allelic disorder with a less severe phenotype.</p>
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<strong>Description</strong>
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<p>Lowe oculocerebrorenal syndrome (OCRL) is a rare X-linked multisystemic disorder characterized by the triad of congenital cataracts, severely impaired intellectual development, and renal tubular dysfunction with slowly progressive renal failure. Other features include postnatal growth retardation independent of kidney function, areflexia, nontender joint swelling, subcutaneous nodules, and arthropathy, which can be observed in about 50% of adult patients (review by Bokenkamp and Ludwig, 2016). </p>
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<strong>Clinical Features</strong>
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<p>The features of Lowe syndrome are hydrophthalmia, cataract, mental retardation, vitamin D-resistant rickets, amino aciduria, and reduced ammonia production by the kidney. Hyporeflexia and hypotonia are usual features, and 'ragged red fiber' muscle pathology has been described (Bailey et al., 1992).</p><p>Charnas et al. (1991) investigated 23 patients with Lowe syndrome who ranged in age from 4 months to 31 years. Linear growth decreased after 1 year of age; bone age was found to lie between chronologic age and height age. Renal dysfunction, characterized by proteinuria, generalized amino aciduria, carnitine wasting, and phosphaturia, occurred in the first year of life. Urinary wasting of individual amino acids was milder than in cystinosis (see 219800), and branched-chain amino acids were relatively spared. Reciprocal serum creatinine levels fell linearly with age, predicting renal failure in the fourth decade. In the blood, concentrations of the muscle enzymes creatine kinase, aspartate aminotransferase, and lactate dehydrogenase, as well as those of total serum protein, serum alpha-2-globulin, and high-density lipoprotein cholesterol, were elevated. Most patients required alkalinization therapy and many benefited from supplemental potassium, phosphate, calcium, and carnitine. The serum enzyme elevations suggested muscle involvement. </p><p>Kenworthy et al. (1993) reviewed IQ and behavior in 47 affected males. Mean IQ was in the moderate to mental retardation range (40-54), with 25% of tested individuals in the normal range (IQ = 70 or more). More than 80% had maladaptive behaviors, particularly stubbornness, temper tantrums, and stereotypic behaviors. </p><p>Matsuda et al. (1969) described a Japanese boy with typical clinical features of Lowe syndrome, but the metabolic acidosis was shown to be due to failure of bicarbonate reabsorption rather than of urinary acidification. The proband's father showed amino aciduria after ornithine loading. Matsuda et al. (1970) proposed that this is a special type of Lowe syndrome that may have autosomal recessive inheritance. They suggested that the cases described by Oetliker and Rossi (1969) were of this type. </p><p>Although there is a wide range of intellectual function in affected individuals, it is often compromised by a high prevalence of maladaptive behaviors, including tantrums, stubbornness, and stereotypy (complex repetitive behaviors). Kenworthy and Charnas (1995) conducted a study to determine whether these behaviors simply reflect the multiple disabilities found in developmentally impaired individuals with or without OCRL or represent a specific genetically determined behavioral phenotype of OCRL. Forty-three cases of OCRL were paired with 43 controls matched for age, sex, visual impairment, and adaptive functioning. Individuals with OCRL displayed significantly more severe maladaptive behaviors than controls. Discriminate function analysis identified 5 behaviors as significantly distinguishing between controls and OCRL individuals: temper tantrums, irritability, stereotypy/mannerisms, obsessions/unusual preoccupations, and negativism. These behavioral features may be a specific effect of the OCRL gene on the central nervous system. </p><p>Gropman et al. (2000) described a mildly affected boy with a diagnosis of Lowe syndrome, confirmed by enzymatic activity of skin fibroblasts, in whom there was a history of congenital cataracts and mild developmental delay and who had hematuria with proteinuria but minimal signs of renal tubular dysfunction. Renal biopsy was compatible with the diagnosis of noncomplement fixating chronic glomerulonephritis. Thus, OCRL should be considered in boys with cataracts and glomerular disease, even in the absence of renal tubular defects and frank mental retardation. </p><p>Dumic et al. (2020) reported a 4.5-year-old boy with Lowe syndrome. The patient had generalized hypotonia, absent deep tendon reflexes and congenital cataracts at 9 days of life. Laboratory testing showed elevated creatine kinase (CK) and lactate dehydrogenase (LDH). At 3 months of age, he had surgery for cataracts and glaucoma. He developed infantile spasms and was treated with vigabatrin. At the age of 13 months, he had severely delayed psychomotor development, hypotonia, absent deep tendon reflexes, and increased joint laxity. Laboratory testing showed low serum phosphate and elevated CK, LDH, and AST. Urinalysis showed generalized aminoaciduria, proteinuria, and high normal urinary excretion of phosphate and calcium. Examination of skin, muscle tissue, and sural nerve by electron microscopy demonstrated swollen mitochondria and disrupted mitochondrial cristae. </p><p><strong><em>Carrier Females</em></strong></p><p>
By slit-lamp examination, Richards et al. (1965) found lens opacities in heterozygotes. Mild 'snowflake' lenticular opacities in carrier females were described by Martin and Carson (1967) and by Gardner and Brown (1976). </p><p>Amino aciduria in the mother of a patient, after loading with ornithine, was reported as a heterozygote manifestation by Chutorian and Rowland (1966); a high incidence of maternal cataract had been noted. </p><p><strong><em>Affected Females</em></strong></p><p>
Svorc et al. (1967) described an affected female child and referred to 2 others in the literature. Such cases may have a different genetic mechanism than X-linkage or may represent infelicitous lyonization in heterozygous females. </p><p>Harris et al. (1970), Hodgson et al. (1986), and Mueller et al. (1991) each reported female patients with Lowe syndrome. </p><p>Cau et al. (2006) reported a young woman with classic Lowe syndrome caused by a de novo OCRL mutation in the active paternal X chromosome. Studies showed extremely skewed X inactivation (100:0) of the maternal chromosome. Family studies found 5 of 7 unaffected females with extremely skewed X-inactivation of the maternal chromosome transmitted the disorder as an X-linked dominant trait (300179). </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Diagnosis</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Because of the allelic heterogeneity exhibited by the OCRL gene, prenatal diagnosis by molecular analysis is limited to families in which the mutation is already known or in which linkage is informative. Suchy et al. (1998) sought a more generally applicable diagnostic test based on biochemical testing. They reported for the first time prenatal diagnosis for Lowe syndrome by measuring phosphatidylinositol 4,5-bisphosphate 5-phosphatase activity in cultured amniocytes. </p><p><strong><em>Carrier Females</em></strong></p><p>
To determine the sensitivity and specificity of ocular examination for the carrier state of Lowe syndrome in females known to be either carriers or noncarriers by direct DNA analysis, Lin et al. (1999) studied 31 females at risk for carrying Lowe syndrome in 3 families. Slit-lamp biomicroscopy after pupillary dilation was performed by a single observer who was uninformed as to the carrier status of the women examined. Adult carrier women had small, irregularly-shaped, off-white, nonrefractile, radially arrayed, peripheral cortical lens opacities. No false-positives were found among the 31 females examined. Only one false-negative was found in a 5-year-old girl. Lin et al. (1999) concluded that slit-lamp examination is a highly accurate and sensitive test for carrier detection in Lowe syndrome, particularly in women of reproductive age. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Biochemical Features</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Lowe syndrome cells have an elevated concentration of phosphatidylinositol 4,5-bisphosphate, the substrate for the OCRL protein (300535) (Zhang et al., 1998). Suchy and Nussbaum (2002) demonstrated a reproducible cellular abnormality of the actin cytoskeleton in fibroblasts from patients with Lowe syndrome. They also demonstrated an abnormal distribution of gelsolin (GSN; 137350) and alpha-actinin (see 102575), actin-binding proteins regulated by both phosphatidylinositol 4,5-bisphosphate and calcium that would be expected to be altered in Lowe cells. Actin polymerization plays a key role in the formation, maintenance, and proper function of tight junctions and adherens junctions, which have been demonstrated to be critical in renal proximal tubule function, and in the differentiation of the lens. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Inheritance</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Streiff et al. (1958) suggested X-linkage of Lowe syndrome because all cases were male and affected brothers had been described. In 1 case, 2 brothers and a cousin (the mothers were sisters) were affected. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Mapping</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Hittner et al. (1982) concluded that the Lowe syndrome is not closely linked to either G6PD (305900) or Xg (314700). They studied a family with 2 affected males. On the basis of lenticular opacities, all 3 females in the pedigree were found to be carriers; each had 1 son--2 affected and 1 unaffected. At least 1 recombination between G6PD and Lowe syndrome and at least 2 between Xg and Lowe syndrome were observed. </p><p>Hodgson et al. (1986) found a seemingly balanced X/autosome translocation, t(X;3)(q25;q27), in a girl with Lowe syndrome. (The patient had inherited a translocation, t(14;17)(q24;q23), from the normal father.) By reasoning parallel to that applied to Duchenne muscular dystrophy and several other X-linked disorders, Hodgson et al. (1986) suggested that the Lowe syndrome locus is in band Xq25. </p><p>By molecular linkage analysis of 4 extensively affected families, Silver et al. (1987) found close linkage of OCRL to RFLPs that map to Xq24-q26, thus confirming the conclusion from the X/autosome translocation. For DXS10, the maximum lod was 6.450 at theta = 0.00; for DXS42, the maximum lod was 5.087 at theta = 0.00. Reilly et al. (1988) showed linkage of OCRL to other markers in the Xq25 region. Furthermore, they used the Xq25 breakpoint in the patient reported by Hodgson et al. (1986) to determine the position of OCRL relative to linked markers. Each derivative chromosome was isolated away from its normal counterpart in somatic cell hybrids. Marker DXS10, which showed 3% recombination with OCRL, stayed with the X chromosome and is therefore proximal to q25, whereas DXS42, which showed no recombination with OCRL, mapped to the derivative chromosome 3. Thus, these are flanking markers which should be useful in carrier determination. Indeed, when compared with carrier detection by ophthalmologic examination, slit-lamp examination proved to be a sensitive and specific method of carrier determination in many cases. By genetic and physical mapping, Reilly et al. (1990) further ordered markers in the Xq24-q26 region. </p><p>Wadelius et al. (1989) found that DXS42 was the most closely linked marker, giving a lod score of 3.12 at theta = 0.0. They also found that lens examination with slit-lamp illumination and a count of the total number of lenticular opacities is a reliable method of ascertaining the carrier state. </p><p>Nelson et al. (1991) identified 3 overlapping YAC clones that crossed a chromosomal translocation implicated in Lowe syndrome. Mueller et al. (1991) localized the X-chromosome breakpoint at q26.1 in a female patient with Lowe syndrome and a balanced X;20 translocation. They found that DXS10 and DXS53 were distal to the breakpoint, whereas DXS37 and DXS42 were located proximal to it. The translocation chromosome originated de novo from the unaffected father. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Population Genetics</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Bokenkamp and Ludwig (2016) stated that the prevalence of Lowe syndrome has been estimated to be 1 in 500,000 in the general population. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Molecular Genetics</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>For a discussion of the molecular genetics of Lowe oculocerebrorenal syndrome, see the entry for the OCRL gene (300535).</p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>History</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>McCance et al. (1960) described a condition that is probably distinct from Lowe syndrome but may also be X-linked since their subjects were 2 brothers with unrelated, unaffected parents. Features were poor appetite, failure to grow, corneal opacities, partial blindness, nystagmus, mental retardation, intention tremor, hyperchloremic acidosis, very acid urine, defect in urinary production of ammonium ion, death from progressive renal failure, underdeveloped glomeruli, structural abnormalities in the brain, and absence of testes. </p>
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>See Also:</strong>
</span>
</h4>
<span class="mim-text-font">
Acker et al. (1967); Auricchio et al. (1961); Delleman et al. (1977);
Lowe et al. (1952); Lowe (1960); Pallisgaard and Goldschmidt (1971);
Silver et al. (1987); Tripathi et al. (1982); Wilson et al. (1963);
Witzleben et al. (1968)
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>REFERENCES</strong>
</span>
</h4>
<div>
<p />
</div>
<div>
<ol>
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Acker, K. J., Roels, H., Beelaerts, W., Pasternack, A., Valcke, R.
<strong>The histologic lesions of the kidney in the oculo-cerebro-renal syndrome of Lowe.</strong>
Nephron 4: 193-214, 1967.
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Auricchio, S., Frischknecht, W., Shmerling, D. H.
<strong>Primare Tubulopathien. III. Ein Fall von oculo-cerebro-renalem Syndrom (Lowe-Syndrome).</strong>
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Bailey, L. C., Jr., Olivos, I. M., Leahey, A. M., Attree, O. F., Okabe, I., Lewis, R. A., MacInnes, R. R., Spinner, N. B., Nelson, D. L., Nussbaum, R. L.
<strong>Characterization of a candidate gene for OCRL. (Abstract)</strong>
Am. J. Hum. Genet. 51 (suppl.): A4 only, 1992.
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<p class="mim-text-font">
Bokenkamp, A., Ludwig, M.
<strong>The oculocerebrorenal syndrome of Lowe: an update.</strong>
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[Full Text: https://doi.org/10.1007/s00467-016-3343-3]
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Cau, M., Addis, M., Congiu, R., Meloni, C., Cao, A., Santaniello, S., Loi, M., Emma, F., Zuffardi, O., Ciccone, R., Sole, G., Melis, M. A.
<strong>A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome.</strong>
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Charnas, L. R., Bernardini, I., Rader, D., Hoeg, J. M., Gahl, W. A.
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[PubMed: 2017228]
[Full Text: https://doi.org/10.1056/NEJM199105093241904]
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<p class="mim-text-font">
Chutorian, A., Rowland, L. P.
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[Full Text: https://doi.org/10.1212/wnl.16.2_part_1.115]
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<p class="mim-text-font">
Delleman, J. W., Bleeker-Wagemakers, E. M., van Veelen, A. W. C.
<strong>Opacities of the lens indicating carrier status in the oculo-cerebro-renal (Lowe) syndrome.</strong>
J. Pediat. Ophthal. 14: 205-212, 1977.
[PubMed: 894443]
</p>
</li>
<li>
<p class="mim-text-font">
Dumic, K. K., Anticevic, D., Petrinovic-Doresic, J., Zigman, T., Zarkovic, K., Rokic, F., Vugrek, O.
<strong>Lowe syndrome--old and new evidence of secondary mitochondrial dysfunction.</strong>
Europ. J. Med. Genet. 63: 104022, 2020.
[PubMed: 32712215]
[Full Text: https://doi.org/10.1016/j.ejmg.2020.104022]
</p>
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<li>
<p class="mim-text-font">
Gardner, R. J. M., Brown, N.
<strong>Lowe&#x27;s syndrome: identification of carriers by lens examination.</strong>
J. Med. Genet. 13: 449-464, 1976.
[PubMed: 1018304]
[Full Text: https://doi.org/10.1136/jmg.13.6.449]
</p>
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<p class="mim-text-font">
Gropman, A., Levin, S., Yao, L., Lin, T., Suchy, S., Sabnis, S., Hadley, D., Nussbaum, R.
<strong>Unusual renal features of Lowe syndrome in a mildly affected boy.</strong>
Am. J. Med. Genet. 95: 461-466, 2000.
[PubMed: 11146467]
[Full Text: https://doi.org/10.1002/1096-8628(20001218)95:5&lt;461::aid-ajmg10&gt;3.0.co;2-d]
</p>
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<li>
<p class="mim-text-font">
Harris, L. S., Gitter, K. A., Galin, M. A., Plechaty, G. P.
<strong>Oculo-cerebro-renal syndrome: report of a case in a baby girl.</strong>
Brit. J. Ophthal. 54: 278-280, 1970.
[PubMed: 5428659]
[Full Text: https://doi.org/10.1136/bjo.54.4.278]
</p>
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<li>
<p class="mim-text-font">
Hittner, H. M., Carroll, A. J., Prchal, J. T.
<strong>Linkage studies in carriers of Lowe oculo-cerebro-renal syndrome.</strong>
Am. J. Hum. Genet. 34: 966-971, 1982.
[PubMed: 7180850]
</p>
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<li>
<p class="mim-text-font">
Hodgson, S. V., Heckmatt, J. Z., Hughes, E., Crolla, J. A., Dubowitz, V., Bobrow, M.
<strong>A balanced de novo X/autosome translocation in a girl with manifestations of Lowe syndrome.</strong>
Am. J. Med. Genet. 23: 837-847, 1986.
[PubMed: 3953680]
[Full Text: https://doi.org/10.1002/ajmg.1320230311]
</p>
</li>
<li>
<p class="mim-text-font">
Kenworthy, L., Charnas, L.
<strong>Evidence for a discrete behavioral phenotype in the oculocerebrorenal syndrome of Lowe.</strong>
Am. J. Med. Genet. 59: 283-290, 1995.
[PubMed: 8599350]
[Full Text: https://doi.org/10.1002/ajmg.1320590304]
</p>
</li>
<li>
<p class="mim-text-font">
Kenworthy, L., Park, T., Charnas, L. R.
<strong>Cognitive and behavioral profile of the oculocerebrorenal syndrome of Lowe.</strong>
Am. J. Med. Genet. 46: 297-303, 1993.
[PubMed: 8488875]
[Full Text: https://doi.org/10.1002/ajmg.1320460312]
</p>
</li>
<li>
<p class="mim-text-font">
Lin, T., Lewis, R. A., Nussbaum, R. L.
<strong>Molecular confirmation of carriers for Lowe syndrome.</strong>
Ophthalmology 106: 119-122, 1999.
[PubMed: 9917791]
[Full Text: https://doi.org/10.1016/S0161-6420(99)90012-X]
</p>
</li>
<li>
<p class="mim-text-font">
Lowe, C. U., Terrey, M., MacLachlan, E. A.
<strong>Organic-aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation.</strong>
Am. J. Dis. Child. 83: 164-184, 1952.
</p>
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<p class="mim-text-font">
Lowe, C. U.
<strong>Oculo-cerebral-renal syndrome.</strong>
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[PubMed: 14418529]
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<p class="mim-text-font">
Martin, V. A. F., Carson, N. A. J.
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Trans. Ophthal. Soc. U.K. 87: 847-870, 1967.
[PubMed: 5255262]
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<p class="mim-text-font">
Matsuda, I., Sugai, M., Kajii, T.
<strong>Ornithine loading test in Lowe&#x27;s syndrome.</strong>
J. Pediat. 77: 127-129, 1970.
[PubMed: 5465360]
[Full Text: https://doi.org/10.1016/s0022-3476(70)80057-9]
</p>
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<p class="mim-text-font">
Matsuda, I., Takeda, T., Sugai, M., Matsuura, N.
<strong>Oculocerebrorenal syndrome.</strong>
Am. J. Dis. Child. 117: 205-212, 1969.
[PubMed: 5763831]
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<p class="mim-text-font">
McCance, R. A., Matheson, W. J., Gresham, G. A., Elkinton, J. R.
<strong>The cerebro-ocular-renal dystrophies: a new variant.</strong>
Arch. Dis. Child. 35: 240-249, 1960.
[PubMed: 21032365]
[Full Text: https://doi.org/10.1136/adc.35.181.240]
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<p class="mim-text-font">
Mueller, O. T., Hartsfield, J. K., Jr., Gallardo, L. A., Essig, Y.-P., Miller, K. L., Papenhausen, P. R., Tedesco, T. A.
<strong>Lowe oculocerebrorenal syndrome in a female with a balanced X;20 translocation: mapping of the X chromosome breakpoint.</strong>
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[PubMed: 1897526]
</p>
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<li>
<p class="mim-text-font">
Nelson, D. L., Ballabio, A., Victoria, M. F., Pieretti, M., Bies, R. D., Gibbs, R. A., Maley, J. A., Chinault, A. C., Webster, T. D., Caskey, C. T.
<strong>Alu-primed polymerase chain reaction for regional assignment of 110 yeast artificial chromosome clones from the human X chromosome: identification of clones associated with a disease locus.</strong>
Proc. Nat. Acad. Sci. 88: 6157-6161, 1991.
[PubMed: 2068096]
[Full Text: https://doi.org/10.1073/pnas.88.14.6157]
</p>
</li>
<li>
<p class="mim-text-font">
Oetliker, O., Rossi, E.
<strong>The influence of extracellular fluid volume on the renal bicarbonate threshold: a study of two children with Lowe&#x27;s syndrome.</strong>
Pediat. Res. 3: 140-148, 1969.
[PubMed: 4889408]
[Full Text: https://doi.org/10.1203/00006450-196903000-00006]
</p>
</li>
<li>
<p class="mim-text-font">
Pallisgaard, G., Goldschmidt, E.
<strong>The oculo-cerebro-renal syndrome of Lowe in four generations of one family.</strong>
Acta Paediat. Scand. 60: 146-148, 1971.
[PubMed: 5548119]
[Full Text: https://doi.org/10.1111/j.1651-2227.1971.tb06634.x]
</p>
</li>
<li>
<p class="mim-text-font">
Reilly, D. S., Lewis, R. A., Ledbetter, D. H., Nussbaum, R. L.
<strong>Tightly linked flanking markers for the Lowe oculocerebrorenal syndrome, with application to carrier assessment.</strong>
Am. J. Hum. Genet. 42: 748-755, 1988.
[PubMed: 2895982]
</p>
</li>
<li>
<p class="mim-text-font">
Reilly, D. S., Lewis, R. A., Nussbaum, R. L.
<strong>Genetic and physical mapping of Xq24-q26 markers flanking the Lowe oculocerebrorenal syndrome.</strong>
Genomics 8: 62-70, 1990.
[PubMed: 2081601]
[Full Text: https://doi.org/10.1016/0888-7543(90)90226-k]
</p>
</li>
<li>
<p class="mim-text-font">
Richards, W., Donnell, G. N., Wilson, W. A., Stowens, D., Perry, T.
<strong>The oculo-cerebro-renal syndrome of Lowe.</strong>
Am. J. Dis. Child. 109: 185-203, 1965.
[PubMed: 14246065]
[Full Text: https://doi.org/10.1001/archpedi.1965.02090020187001]
</p>
</li>
<li>
<p class="mim-text-font">
Silver, D. N., Lewis, R. A., Ledbetter, D. H., Bobrow, M., Nussbaum, R. L.
<strong>Identification of tightly-linked flanking markers for Lowe syndrome. (Abstract)</strong>
Cytogenet. Cell Genet. 46: 692 only, 1987.
</p>
</li>
<li>
<p class="mim-text-font">
Silver, D. N., Lewis, R. A., Nussbaum, R. L.
<strong>Mapping the Lowe oculocerebrorenal syndrome to Xq24-q26 by use of restriction fragment length polymorphisms.</strong>
J. Clin. Invest. 79: 282-285, 1987.
[PubMed: 2878939]
[Full Text: https://doi.org/10.1172/JCI112795]
</p>
</li>
<li>
<p class="mim-text-font">
Streiff, E. B., Straub, W., Golay, L.
<strong>Les manifestations oculaires du syndrome de Lowe.</strong>
Ophthalmologica 135: 632-639, 1958.
[PubMed: 13553275]
[Full Text: https://doi.org/10.1159/000303367]
</p>
</li>
<li>
<p class="mim-text-font">
Suchy, S. F., Lin, T., Horwitz, J. A., O'Brien, W. E., Nussbaum, R. L.
<strong>First report of prenatal biochemical diagnosis of Lowe syndrome.</strong>
Prenatal Diag. 18: 1117-1121, 1998.
[PubMed: 9854717]
[Full Text: https://doi.org/10.1002/(sici)1097-0223(199811)18:11&lt;1117::aid-pd413&gt;3.0.co;2-q]
</p>
</li>
<li>
<p class="mim-text-font">
Suchy, S. F., Nussbaum, R. L.
<strong>The deficiency of PIP(2) 5-phosphatase in Lowe syndrome affects actin polymerization.</strong>
Am. J. Hum. Genet. 71: 1420-1427, 2002.
[PubMed: 12428211]
[Full Text: https://doi.org/10.1086/344517]
</p>
</li>
<li>
<p class="mim-text-font">
Svorc, J., Masopust, J., Komarkova, A., Macek, M., Hyanek, J.
<strong>Oculocerebrorenal syndrome in a female child.</strong>
Am. J. Dis. Child. 114: 186-190, 1967.
[PubMed: 4951545]
</p>
</li>
<li>
<p class="mim-text-font">
Tripathi, R., Cibis, G. W., Harris, D. J., Tripathi, B.
<strong>Lowe&#x27;s syndrome.</strong>
Birth Defects Orig. Art. Ser. 18(6): 629-644, 1982.
[PubMed: 6890859]
</p>
</li>
<li>
<p class="mim-text-font">
Wadelius, C., Fagerholm, P., Pettersson, U., Anneren, G.
<strong>Lowe oculocerebrorenal syndrome: DNA-based linkage of the gene to Xq24-q26, using tightly linked flanking markers and the correlation to lens examination in carrier diagnosis.</strong>
Am. J. Hum. Genet. 44: 241-247, 1989.
[PubMed: 2912070]
</p>
</li>
<li>
<p class="mim-text-font">
Wilson, W. A., Richards, W., Donnell, G. N.
<strong>Oculo-cerebral-renal syndrome of Lowe: a review of eight cases noting the genetic inheritance.</strong>
Arch. Ophthal. 70: 5-11, 1963.
</p>
</li>
<li>
<p class="mim-text-font">
Witzleben, C. L., Schoen, E. J., Tu, W. H., McDonald, L. W.
<strong>Progressive morphologic renal changes in the oculo-cerebro-renal syndrome of Lowe.</strong>
Am. J. Med. 44: 319-324, 1968.
[PubMed: 5635681]
[Full Text: https://doi.org/10.1016/0002-9343(68)90163-0]
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</li>
<li>
<p class="mim-text-font">
Zhang, X., Hartz, P. A., Philip, E., Rascusen, L. C., Majerus, P. W.
<strong>Cell lines from kidney proximal tubules of a patient with Lowe syndrome lack OCRL inositol polyphosphate 5-phosphatase and accumulate phosphatidylinositol 4,5-bisphosphate.</strong>
J. Biol. Chem. 273: 1574-1582, 1998.
[PubMed: 9430698]
[Full Text: https://doi.org/10.1074/jbc.273.3.1574]
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