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Entry
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- #245800 - LAURENCE-MOON SYNDROME; LNMS
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- OMIM
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<p>
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<span class="h4">#245800</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<li role="presentation">
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<a href="/clinicalSynopsis/245800"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</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="#history">History</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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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div style="display: table-cell;">External Links</div>
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</h4>
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=LAURENCE-MOON 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>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=531&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><a href="https://www.ncbi.nlm.nih.gov/books/NBK247161/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=245800[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2377" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/c63b568f-faaf-4251-8a57-de0350398b19/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:1930" 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>
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<div><a href="http://www.informatics.jax.org/disease/245800" 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>
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<div><a href="https://wormbase.org/resources/disease/DOID:1930" 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">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</div>
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<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://catalog.coriell.org/Search?q=OmimNum:245800" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 232059000, 5619004<br />
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<strong>ICD10CM:</strong> Q87.84<br />
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<strong>ORPHA:</strong> 2377<br />
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<strong>DO:</strong> 1930<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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245800
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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LAURENCE-MOON SYNDROME; LNMS
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
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<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
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</span>
|
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/19/207?start=-3&limit=10&highlight=207">
|
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19p13.2
|
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</a>
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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?Laurence-Moon syndrome
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<span class="mim-tip-hint" title="A question mark (?) indicates that the relationship between the phenotype and gene is provisional">
|
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<span class="glyphicon glyphicon-question-sign" aria-hidden="true"></span>
|
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</span>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/245800"> 245800 </a>
|
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</span>
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</td>
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<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
PNPLA6
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603197"> 603197 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/245800" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/245800" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/245800" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
|
|
|
|
|
|
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GROWTH </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> 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> Weight </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- No obesity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855532&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855532</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">
|
|
|
|
- Pigmentary retinopathy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/28835009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">28835009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H35.52" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H35.52</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4551715&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551715</a>, <a href="https://bioportal.bioontology.org/search?q=C0035334&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0035334</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000510</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0000580" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000580</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000580" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000580</a>]</span><br /> -
|
|
Nystagmus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/563001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">563001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H55.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H55.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H55.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H55.00</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/379.50" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">379.50</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0028738&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0028738</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000639" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000639</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000639" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000639</a>]</span><br /> -
|
|
Choroidal atrophy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/247200005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">247200005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0423450&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0423450</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GENITOURINARY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> External Genitalia (Male) </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Micropenis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/34911001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">34911001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q55.62" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q55.62</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/752.64" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">752.64</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266435&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266435</a>, <a href="https://bioportal.bioontology.org/search?q=C4551492&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551492</a>, <a href="https://bioportal.bioontology.org/search?q=C1387005&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1387005</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008736" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008736</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0000054" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000054</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000054" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000054</a>]</span><br /> -
|
|
Hypoplastic scrotum <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204912007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204912007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/276332008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">276332008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0455792&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0455792</a>, <a href="https://bioportal.bioontology.org/search?q=C0431659&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0431659</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000046" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000046</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000046" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000046</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Hands </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- No polydactyly <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855533&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855533</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">
|
|
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- Ataxia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/20262006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">20262006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/39384006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">39384006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/85102008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">85102008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R27.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R27.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/438.84" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">438.84</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0004134&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0004134</a>, <a href="https://bioportal.bioontology.org/search?q=C1135207&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1135207</a>, <a href="https://bioportal.bioontology.org/search?q=C0007758&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0007758</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001251" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001251</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0010867" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010867</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001251" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001251</a>]</span><br /> -
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Spastic paraplegia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/192967009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">192967009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0037772&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0037772</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001258" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001258</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001258" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001258</a>]</span><br /> -
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Mental retardation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/228156007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">228156007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/110359009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">110359009</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/317-319.99" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">317-319.99</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3714756&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3714756</a>, <a href="https://bioportal.bioontology.org/search?q=C0025362&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025362</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span><br />
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<strong> MISCELLANEOUS </strong>
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- Variable phenotype <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837514&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837514</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003812" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003812</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003812" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003812</a>]</span><br /> -
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Mutation in PNPLA6 identified in 1 Laurence-Moon syndrome family (last curated March 2015)<br />
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<strong> MOLECULAR BASIS </strong>
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- Caused by mutation in the patatin-like phospholipase domain-containing protein 6 gene (PNPLA6, <a href="/entry/603197#0013">603197.0013</a>)<br />
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<p>A number sign (#) is used with this entry because of evidence that Laurence-Moon syndrome (LNMS) is caused by compound heterozygous mutation in the PNPLA6 gene (<a href="/entry/603197">603197</a>) on chromosome 19p13. One such family has been reported.</p><p>Oliver-McFarlane syndrome (OMCS; <a href="/entry/275400">275400</a>) is an allelic disorder with overlapping features.</p>
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<p>Laurence-Moon syndrome (LNMS) has a clinical presentation similar to that of Oliver-McFarlane syndrome (<a href="/entry/275400">275400</a>), including chorioretinopathy and pituitary dysfunction, but with childhood onset of ataxia, peripheral neuropathy, and spastic paraplegia and without trichomegaly. Historically, Laurence-Moon syndrome has been associated with Bardet-Biedl syndrome (see BBS, <a href="/entry/209900">209900</a>) (summary by <a href="#4" class="mim-tip-reference" title="Hufnagel, R. B., Arno, G., Hein, N. D., Hersheson, J., Prasad, M., Anderson, Y., Krueger, L. A., Gregory, L. C., Stoetzel, C., Jaworek, T. J., Hull, S., Li, A., and 20 others. <strong>Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes.</strong> J. Med. Genet. 52: 85-94, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25480986/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25480986</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25480986[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmedgenet-2014-102856" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25480986">Hufnagel et al., 2015</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25480986" 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 in the 4 sibs reported by <a href="#8" class="mim-tip-reference" title="Laurence, J. Z., Moon, R. C. <strong>Four cases of retinitis pigmentosa occurring in the same family and accompanied by general imperfection of development.</strong> Ophthal. Rev. 2: 32-41, 1866."None>Laurence and Moon (1866)</a> and later by Hutchinson (<a href="#5" class="mim-tip-reference" title="Hutchinson, J. <strong>On retinitis pigmentosa and allied affections, as illustrating the laws of heredity.</strong> Ophthal. Rev. 1: 2-7 and 26-30, 1882."None>1882</a>, <a href="#6" class="mim-tip-reference" title="Hutchinson, J. <strong>Slowly progressive paraplegia and disease of the choroids with defective intellect and arrested sexual development.</strong> Arch. Surg. 11: 118-122, 1900."None>1900</a>) were mental retardation, pigmentary retinopathy, hypogenitalism, and spastic paraplegia. <a href="#11" class="mim-tip-reference" title="Solis-Cohen, S., Weiss, E. <strong>Dystrophia adiposogenitalis with atypical retinitis pigmentosa and mental deficiency: the Laurence-Biedl syndrome.</strong> Am. J. Med. Sci. 169: 489-505, 1925."None>Solis-Cohen and Weiss (1925)</a> considered the disorder identical to Bardet and Biedl syndrome; they used the designation Laurence-Biedl syndrome. The existence of a separate entity was suggested by <a href="#1" class="mim-tip-reference" title="Bowen, P., Ferguson-Smith, M. A., Mosier, D., Lee, C. S. N., Butler, H. G. <strong>The Laurence-Moon syndrome. Association with hypogonadotrophic hypogonadism and sex-chromosome aneuploidy.</strong> Arch. Intern. Med. 116: 598-604, 1965.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5835363/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5835363</a>] [<a href="https://doi.org/10.1001/archinte.116.4.598" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5835363">Bowen et al. (1965)</a> and others. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5835363" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Chalvon-Demersay, A., Tardieu, M., Crosnier, H., Benichou, J. J., Pienkowski, C., Rochiccioli, P., Labrune, B. <strong>Syndrome de Laurence-Moon (Bardet-Biedl) avec deficit en hormone de croissance.</strong> Arch. Franc. Pediat. 50: 859-862, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8053762/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8053762</a>]" pmid="8053762">Chalvon-Demersay et al. (1993)</a> reported a family with Laurence-Moon syndrome in which 5 members had retinopathy, mental retardation, and first metacarpal hypoplasia with proximal placement of the thumb. In addition to growth retardation and hypogonadism, all 5 had had spastic paraplegia since the age of 5 to 6 years. Four of the patients (2 girls, 2 boys) had low basal plasma levels of follicle- stimulating hormone (FSH; see <a href="/entry/136530">136530</a>) and luteinizing hormone (LH; see <a href="/entry/152780">152780</a>). <a href="#4" class="mim-tip-reference" title="Hufnagel, R. B., Arno, G., Hein, N. D., Hersheson, J., Prasad, M., Anderson, Y., Krueger, L. A., Gregory, L. C., Stoetzel, C., Jaworek, T. J., Hull, S., Li, A., and 20 others. <strong>Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes.</strong> J. Med. Genet. 52: 85-94, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25480986/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25480986</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25480986[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmedgenet-2014-102856" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25480986">Hufnagel et al. (2015)</a> examined 2 affected members of this family, a 42-year-old female and a 41-year-old male, and found abnormal pituitary hormone concentrations, including low gonadotropins. Brain MRI demonstrated small anterior pituitary size. Fundus examination showed diffuse choroidal and retinal pigment atrophy with peripapillary sparing. Hand x-rays demonstrated contractures consistent with spastic paraplegia. Both patients had prominent chins. The woman had normal eyelash length and mild frontal scalp alopecia; the male had long eyelashes, bushy eyebrows, and prominent frontal bone, suggestive of Oliver-McFarlane syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8053762+25480986" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 22-year prospective cohort study of 46 patients from 26 Newfoundland families with BBS, <a href="#9" class="mim-tip-reference" title="Moore, S. J., Green, J. S., Fan, Y., Bhogal, A. K., Dicks, E., Fernandez, B. A., Stefanelli, M., Murphy, C., Cramer, B. C., Dean, J. C. S., Beales, P. L., Katsanis, N., Bassett, A. S., Davidson, W. S, Parfrey, P. S. <strong>Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study.</strong> Am. J. Med. Genet. 132A: 352-360, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15637713/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15637713</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15637713[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/ajmg.a.30406" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15637713">Moore et al. (2005)</a> found no apparent correlation of clinical or dysmorphic features with genotype. They reported that of 2 patients clinically diagnosed as having Laurence-Moon syndrome, one was from a consanguineous pedigree with linkage to the BBS5 gene, and the other was a compound heterozygote for mutations in the MKKS gene (<a href="/entry/604896#0007">604896.0007</a> and <a href="/entry/604896#0008">604896.0008</a>). <a href="#9" class="mim-tip-reference" title="Moore, S. J., Green, J. S., Fan, Y., Bhogal, A. K., Dicks, E., Fernandez, B. A., Stefanelli, M., Murphy, C., Cramer, B. C., Dean, J. C. S., Beales, P. L., Katsanis, N., Bassett, A. S., Davidson, W. S, Parfrey, P. S. <strong>Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study.</strong> Am. J. Med. Genet. 132A: 352-360, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15637713/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15637713</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15637713[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/ajmg.a.30406" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15637713">Moore et al. (2005)</a> concluded that the features in this population did not support the notion that BBS and Laurence-Moon syndrome are distinct. The patient with mutations in the MKKS gene (NF-B5) had previously been reported by <a href="#7" class="mim-tip-reference" title="Katsanis, N., Beales, P. L., Woods, M. O., Lewis, R. A., Green, J. S., Parfrey, P. S., Ansley, S. J., Davidson, W. S., Lupski, J. R. <strong>Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome.</strong> Nature Genet. 26: 67-70, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10973251/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10973251</a>] [<a href="https://doi.org/10.1038/79201" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10973251">Katsanis et al. (2000)</a> as having BBS6, thus illustrating the difficulty in distinguishing these 2 disorders. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10973251+15637713" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Hufnagel, R. B., Arno, G., Hein, N. D., Hersheson, J., Prasad, M., Anderson, Y., Krueger, L. A., Gregory, L. C., Stoetzel, C., Jaworek, T. J., Hull, S., Li, A., and 20 others. <strong>Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes.</strong> J. Med. Genet. 52: 85-94, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25480986/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25480986</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25480986[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmedgenet-2014-102856" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25480986">Hufnagel et al. (2015)</a> considered the Laurence-Moon and Bardet-Biedl syndromes to be distinct, given the marked choroidal atrophy, hypopituitarism with short stature, early neurologic involvement, and the absence of polydactyly and renal disease in Laurence-Moon syndrome. They also noted that the retinal degeneration is distinct, with Laurence-Moon and Oliver-McFarlane syndromes resembling choroideremia, and BBS resembling cone-rod dystrophy or retinitis pigmentosa with choroidal sparing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25480986" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The transmission pattern of Laurence-Moon syndrome in the family reported by <a href="#2" class="mim-tip-reference" title="Chalvon-Demersay, A., Tardieu, M., Crosnier, H., Benichou, J. J., Pienkowski, C., Rochiccioli, P., Labrune, B. <strong>Syndrome de Laurence-Moon (Bardet-Biedl) avec deficit en hormone de croissance.</strong> Arch. Franc. Pediat. 50: 859-862, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8053762/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8053762</a>]" pmid="8053762">Chalvon-Demersay et al. (1993)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8053762" 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="#3" class="mim-tip-reference" title="Farag, T. I., Teebi, A. S. <strong>Bardet-Biedl and Laurence-Moon syndromes in a mixed Arab population.</strong> Clin. Genet. 33: 78-82, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3359670/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3359670</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1988.tb03414.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3359670">Farag and Teebi (1988)</a> concluded that both the Bardet-Biedl and the Laurence-Moon syndromes are increased in the Arab population of Kuwait. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3359670" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In affected members of a family with a clinical diagnosis of Laurence-Moon syndrome, originally reported by <a href="#2" class="mim-tip-reference" title="Chalvon-Demersay, A., Tardieu, M., Crosnier, H., Benichou, J. J., Pienkowski, C., Rochiccioli, P., Labrune, B. <strong>Syndrome de Laurence-Moon (Bardet-Biedl) avec deficit en hormone de croissance.</strong> Arch. Franc. Pediat. 50: 859-862, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8053762/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8053762</a>]" pmid="8053762">Chalvon-Demersay et al. (1993)</a>, <a href="#4" class="mim-tip-reference" title="Hufnagel, R. B., Arno, G., Hein, N. D., Hersheson, J., Prasad, M., Anderson, Y., Krueger, L. A., Gregory, L. C., Stoetzel, C., Jaworek, T. J., Hull, S., Li, A., and 20 others. <strong>Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes.</strong> J. Med. Genet. 52: 85-94, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25480986/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25480986</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25480986[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmedgenet-2014-102856" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25480986">Hufnagel et al. (2015)</a> identified compound heterozygous mutations in the PNPLA6 gene (<a href="/entry/603197#0013">603197.0013</a>; <a href="/entry/603197#0017">603197.0017</a>). The mutations, which were found by exome sequencing, segregated with the disorder in the family. The mutations were not found in over 300 ethnically matched controls or in the 1000 Genomes Project or Exome Variant Server databases. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8053762+25480986" 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="#10" class="mim-tip-reference" title="Roth, A. A. <strong>Familial eunuchoidism: the Laurence-Moon-Biedl syndrome.</strong> J. Urol. 57: 427-442, 1947.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20286155/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20286155</a>] [<a href="https://doi.org/10.1016/S0022-5347(17)69652-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20286155">Roth (1947)</a> described 4 brothers of Czechoslovakian extraction, with unrelated parents, who had infantile external genitalia, hypogonadotropic hypogonadism, gynecomastia, and retinal degeneration. One was notably obese. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20286155" 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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Bowen, P., Ferguson-Smith, M. A., Mosier, D., Lee, C. S. N., Butler, H. G.
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<strong>The Laurence-Moon syndrome. Association with hypogonadotrophic hypogonadism and sex-chromosome aneuploidy.</strong>
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Arch. Intern. Med. 116: 598-604, 1965.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5835363/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5835363</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5835363" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1001/archinte.116.4.598" target="_blank">Full Text</a>]
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Chalvon-Demersay, A., Tardieu, M., Crosnier, H., Benichou, J. J., Pienkowski, C., Rochiccioli, P., Labrune, B.
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<strong>Syndrome de Laurence-Moon (Bardet-Biedl) avec deficit en hormone de croissance.</strong>
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Arch. Franc. Pediat. 50: 859-862, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8053762/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8053762</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8053762" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Farag, T. I., Teebi, A. S.
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<strong>Bardet-Biedl and Laurence-Moon syndromes in a mixed Arab population.</strong>
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Clin. Genet. 33: 78-82, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3359670/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3359670</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3359670" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1988.tb03414.x" target="_blank">Full Text</a>]
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Hufnagel, R. B., Arno, G., Hein, N. D., Hersheson, J., Prasad, M., Anderson, Y., Krueger, L. A., Gregory, L. C., Stoetzel, C., Jaworek, T. J., Hull, S., Li, A., and 20 others.
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<strong>Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes.</strong>
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J. Med. Genet. 52: 85-94, 2015.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25480986/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25480986</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25480986[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=25480986" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmedgenet-2014-102856" target="_blank">Full Text</a>]
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Hutchinson, J.
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<strong>On retinitis pigmentosa and allied affections, as illustrating the laws of heredity.</strong>
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Ophthal. Rev. 1: 2-7 and 26-30, 1882.
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<strong>Slowly progressive paraplegia and disease of the choroids with defective intellect and arrested sexual development.</strong>
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Arch. Surg. 11: 118-122, 1900.
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Katsanis, N., Beales, P. L., Woods, M. O., Lewis, R. A., Green, J. S., Parfrey, P. S., Ansley, S. J., Davidson, W. S., Lupski, J. R.
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<strong>Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome.</strong>
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Nature Genet. 26: 67-70, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10973251/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10973251</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10973251" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/79201" target="_blank">Full Text</a>]
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Laurence, J. Z., Moon, R. C.
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<strong>Four cases of retinitis pigmentosa occurring in the same family and accompanied by general imperfection of development.</strong>
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Ophthal. Rev. 2: 32-41, 1866.
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<p class="mim-text-font">
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Moore, S. J., Green, J. S., Fan, Y., Bhogal, A. K., Dicks, E., Fernandez, B. A., Stefanelli, M., Murphy, C., Cramer, B. C., Dean, J. C. S., Beales, P. L., Katsanis, N., Bassett, A. S., Davidson, W. S, Parfrey, P. S.
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<strong>Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study.</strong>
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Am. J. Med. Genet. 132A: 352-360, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15637713/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15637713</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15637713[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=15637713" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.30406" target="_blank">Full Text</a>]
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<a id="Roth1947" class="mim-anchor"></a>
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<p class="mim-text-font">
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Roth, A. A.
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<strong>Familial eunuchoidism: the Laurence-Moon-Biedl syndrome.</strong>
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J. Urol. 57: 427-442, 1947.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20286155/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20286155</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20286155" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/S0022-5347(17)69652-6" target="_blank">Full Text</a>]
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Solis-Cohen, S., Weiss, E.
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<strong>Dystrophia adiposogenitalis with atypical retinitis pigmentosa and mental deficiency: the Laurence-Biedl syndrome.</strong>
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Am. J. Med. Sci. 169: 489-505, 1925.
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Carol A. Bocchini - updated : 3/19/2015
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 3/17/2005<br>Victor A. McKusick - updated : 3/17/2005
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Victor A. McKusick : 6/3/1986
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carol : 01/05/2023
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carol : 06/11/2019<br>carol : 08/10/2017<br>carol : 07/21/2017<br>carol : 04/28/2017<br>carol : 03/19/2015<br>carol : 3/19/2015<br>mcolton : 3/19/2015<br>carol : 3/19/2015<br>carol : 5/17/2005<br>carol : 4/7/2005<br>carol : 3/17/2005<br>carol : 3/17/2005<br>mgross : 3/17/2004<br>davew : 6/3/1994<br>mimadm : 2/19/1994<br>carol : 10/19/1992<br>supermim : 3/16/1992<br>supermim : 3/20/1990<br>ddp : 10/26/1989
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<strong>#</strong> 245800
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LAURENCE-MOON SYNDROME; LNMS
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<strong>SNOMEDCT:</strong> 232059000, 5619004;
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<strong>ICD10CM:</strong> Q87.84;
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<strong>ORPHA:</strong> 2377;
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<strong>DO:</strong> 1930;
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<strong>Phenotype-Gene Relationships</strong>
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Phenotype
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Inheritance
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Phenotype <br /> mapping key
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19p13.2
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<span class="mim-font">
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?Laurence-Moon syndrome
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<span class="mim-font">
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245800
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Autosomal recessive
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3
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PNPLA6
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603197
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<p>A number sign (#) is used with this entry because of evidence that Laurence-Moon syndrome (LNMS) is caused by compound heterozygous mutation in the PNPLA6 gene (603197) on chromosome 19p13. One such family has been reported.</p><p>Oliver-McFarlane syndrome (OMCS; 275400) is an allelic disorder with overlapping features.</p>
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<strong>Description</strong>
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<p>Laurence-Moon syndrome (LNMS) has a clinical presentation similar to that of Oliver-McFarlane syndrome (275400), including chorioretinopathy and pituitary dysfunction, but with childhood onset of ataxia, peripheral neuropathy, and spastic paraplegia and without trichomegaly. Historically, Laurence-Moon syndrome has been associated with Bardet-Biedl syndrome (see BBS, 209900) (summary by Hufnagel et al., 2015). </p>
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<strong>Clinical Features</strong>
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<p>The features in the 4 sibs reported by Laurence and Moon (1866) and later by Hutchinson (1882, 1900) were mental retardation, pigmentary retinopathy, hypogenitalism, and spastic paraplegia. Solis-Cohen and Weiss (1925) considered the disorder identical to Bardet and Biedl syndrome; they used the designation Laurence-Biedl syndrome. The existence of a separate entity was suggested by Bowen et al. (1965) and others. </p><p>Chalvon-Demersay et al. (1993) reported a family with Laurence-Moon syndrome in which 5 members had retinopathy, mental retardation, and first metacarpal hypoplasia with proximal placement of the thumb. In addition to growth retardation and hypogonadism, all 5 had had spastic paraplegia since the age of 5 to 6 years. Four of the patients (2 girls, 2 boys) had low basal plasma levels of follicle- stimulating hormone (FSH; see 136530) and luteinizing hormone (LH; see 152780). Hufnagel et al. (2015) examined 2 affected members of this family, a 42-year-old female and a 41-year-old male, and found abnormal pituitary hormone concentrations, including low gonadotropins. Brain MRI demonstrated small anterior pituitary size. Fundus examination showed diffuse choroidal and retinal pigment atrophy with peripapillary sparing. Hand x-rays demonstrated contractures consistent with spastic paraplegia. Both patients had prominent chins. The woman had normal eyelash length and mild frontal scalp alopecia; the male had long eyelashes, bushy eyebrows, and prominent frontal bone, suggestive of Oliver-McFarlane syndrome. </p><p>In a 22-year prospective cohort study of 46 patients from 26 Newfoundland families with BBS, Moore et al. (2005) found no apparent correlation of clinical or dysmorphic features with genotype. They reported that of 2 patients clinically diagnosed as having Laurence-Moon syndrome, one was from a consanguineous pedigree with linkage to the BBS5 gene, and the other was a compound heterozygote for mutations in the MKKS gene (604896.0007 and 604896.0008). Moore et al. (2005) concluded that the features in this population did not support the notion that BBS and Laurence-Moon syndrome are distinct. The patient with mutations in the MKKS gene (NF-B5) had previously been reported by Katsanis et al. (2000) as having BBS6, thus illustrating the difficulty in distinguishing these 2 disorders. </p><p>Hufnagel et al. (2015) considered the Laurence-Moon and Bardet-Biedl syndromes to be distinct, given the marked choroidal atrophy, hypopituitarism with short stature, early neurologic involvement, and the absence of polydactyly and renal disease in Laurence-Moon syndrome. They also noted that the retinal degeneration is distinct, with Laurence-Moon and Oliver-McFarlane syndromes resembling choroideremia, and BBS resembling cone-rod dystrophy or retinitis pigmentosa with choroidal sparing. </p>
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<span class="mim-font">
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<strong>Inheritance</strong>
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<span class="mim-text-font">
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<p>The transmission pattern of Laurence-Moon syndrome in the family reported by Chalvon-Demersay et al. (1993) was consistent with autosomal recessive inheritance. </p>
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<strong>Population Genetics</strong>
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<span class="mim-text-font">
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<p>Farag and Teebi (1988) concluded that both the Bardet-Biedl and the Laurence-Moon syndromes are increased in the Arab population of Kuwait. </p>
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<strong>Molecular Genetics</strong>
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<span class="mim-text-font">
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<p>In affected members of a family with a clinical diagnosis of Laurence-Moon syndrome, originally reported by Chalvon-Demersay et al. (1993), Hufnagel et al. (2015) identified compound heterozygous mutations in the PNPLA6 gene (603197.0013; 603197.0017). The mutations, which were found by exome sequencing, segregated with the disorder in the family. The mutations were not found in over 300 ethnically matched controls or in the 1000 Genomes Project or Exome Variant Server databases. </p>
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<strong>History</strong>
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<span class="mim-text-font">
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<p>Roth (1947) described 4 brothers of Czechoslovakian extraction, with unrelated parents, who had infantile external genitalia, hypogonadotropic hypogonadism, gynecomastia, and retinal degeneration. One was notably obese. </p>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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<p class="mim-text-font">
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Bowen, P., Ferguson-Smith, M. A., Mosier, D., Lee, C. S. N., Butler, H. G.
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<strong>The Laurence-Moon syndrome. Association with hypogonadotrophic hypogonadism and sex-chromosome aneuploidy.</strong>
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Arch. Intern. Med. 116: 598-604, 1965.
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[PubMed: 5835363]
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[Full Text: https://doi.org/10.1001/archinte.116.4.598]
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Chalvon-Demersay, A., Tardieu, M., Crosnier, H., Benichou, J. J., Pienkowski, C., Rochiccioli, P., Labrune, B.
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<strong>Syndrome de Laurence-Moon (Bardet-Biedl) avec deficit en hormone de croissance.</strong>
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Arch. Franc. Pediat. 50: 859-862, 1993.
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[PubMed: 8053762]
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<p class="mim-text-font">
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Farag, T. I., Teebi, A. S.
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<strong>Bardet-Biedl and Laurence-Moon syndromes in a mixed Arab population.</strong>
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Clin. Genet. 33: 78-82, 1988.
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[PubMed: 3359670]
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[Full Text: https://doi.org/10.1111/j.1399-0004.1988.tb03414.x]
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Hufnagel, R. B., Arno, G., Hein, N. D., Hersheson, J., Prasad, M., Anderson, Y., Krueger, L. A., Gregory, L. C., Stoetzel, C., Jaworek, T. J., Hull, S., Li, A., and 20 others.
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<strong>Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes.</strong>
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Hutchinson, J.
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<strong>Slowly progressive paraplegia and disease of the choroids with defective intellect and arrested sexual development.</strong>
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Arch. Surg. 11: 118-122, 1900.
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Katsanis, N., Beales, P. L., Woods, M. O., Lewis, R. A., Green, J. S., Parfrey, P. S., Ansley, S. J., Davidson, W. S., Lupski, J. R.
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Laurence, J. Z., Moon, R. C.
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Moore, S. J., Green, J. S., Fan, Y., Bhogal, A. K., Dicks, E., Fernandez, B. A., Stefanelli, M., Murphy, C., Cramer, B. C., Dean, J. C. S., Beales, P. L., Katsanis, N., Bassett, A. S., Davidson, W. S, Parfrey, P. S.
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<strong>Familial eunuchoidism: the Laurence-Moon-Biedl syndrome.</strong>
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Solis-Cohen, S., Weiss, E.
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<strong>Dystrophia adiposogenitalis with atypical retinitis pigmentosa and mental deficiency: the Laurence-Biedl syndrome.</strong>
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