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Entry
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- %251600 - MICROPHTHALMIA, ISOLATED 1; MCOP1
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- OMIM
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<span class="h4">%251600</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="/clinicalSynopsis/251600"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS251600"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#nomenclature">Nomenclature</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#clinicalFeatures">Clinical Features</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#seeAlso"><strong>See Also</strong></a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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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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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">Gene Info</div>
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</a>
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<div id="mimGeneInfoLinksFold" 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="http://biogps.org/#goto=genereport&id=8113" class="mim-tip-hint" title="The Gene Portal Hub; customizable portal of gene and protein function information." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'BioGPS', 'domain': 'biogps.org'})">BioGPS</a></div>
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<div><a href="https://www.genome.jp/dbget-bin/www_bget?hsa+8113" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/8113" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div style="display: table-cell;">Clinical Resources</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="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div><a href="https://clinicaltrials.gov/search?cond=MICROPHTHALMIA, ISOLATED" 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=3713&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/gtr/all/tests/?term=251600[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=2542" 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>
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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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</span>
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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>ORPHA:</strong> 2542<br />
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<strong>DO:</strong> 0060840<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 or locus, molecular basis unknown">
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<span class="text-danger"><strong>%</strong></span>
|
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251600
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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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MICROPHTHALMIA, ISOLATED 1; MCOP1
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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="alternativeTitles" class="mim-anchor"></a>
|
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<div>
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<p>
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<span class="mim-font">
|
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<em>Alternative titles; symbols</em>
|
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</span>
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</p>
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</div>
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<div>
|
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<h4>
|
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<span class="mim-font">
|
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MCOP<br />
|
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ANOPHTHALMIA, CLINICAL, ISOLATED<br />
|
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MICROPHTHALMOS, AUTOSOMAL RECESSIVE
|
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</span>
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</h4>
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</div>
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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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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
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<strong>
|
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<em>
|
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Cytogenetic location: <a href="/geneMap/14/448?start=-3&limit=10&highlight=448">14q32</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr14:89300001-107043718&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">14:89,300,001-107,043,718</a> </span>
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</em>
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</strong>
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</span>
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</p>
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</div>
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<div>
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<br />
|
|
</div>
|
|
<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
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<th>
|
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Location
|
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</th>
|
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<th>
|
|
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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</tr>
|
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</thead>
|
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<tbody>
|
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|
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<tr>
|
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<td rowspan="1">
|
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<span class="mim-font">
|
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<a href="/geneMap/14/448?start=-3&limit=10&highlight=448">
|
|
14q32
|
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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">
|
|
Microphthalmia, isolated 1
|
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|
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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/251600"> 251600 </a>
|
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|
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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>
|
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|
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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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<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods">2</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
|
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|
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|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/251600" 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>
|
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|
|
|
|
|
<div class="btn-group">
|
|
|
|
<a href="/phenotypicSeries/PS251600" class="btn btn-info" role="button"> Phenotypic Series </a>
|
|
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
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|
|
|
|
|
|
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|
|
<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/251600" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/251600" 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>
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|
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<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
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|
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|
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<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>
|
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|
|
<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">
|
|
|
|
- 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 /> -
|
|
Corneal opacity <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/64634000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">64634000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/413921009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">413921009</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/371.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">371.00</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0010038&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0010038</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007957" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007957</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007957" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007957</a>]</span><br /> -
|
|
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 /> -
|
|
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 /> -
|
|
Increased intraocular pressure <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/112222000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">112222000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0234708&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234708</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007906" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007906</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007906" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007906</a>]</span><br /> -
|
|
Sclerocornea, partial-complete <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5775812&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5775812</a>]</span><br /> -
|
|
Corneal vascularization <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/246925003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">246925003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H16.40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H16.40</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H16.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H16.4</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/370.60" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">370.60</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/370.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">370.6</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0085109&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0085109</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011496" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011496</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011496" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011496</a>]</span><br /> -
|
|
Anterior staphyloma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/231888000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">231888000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0339206&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0339206</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030855" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030855</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030855" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030855</a>]</span><br />
|
|
|
|
</span>
|
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</div>
|
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</div>
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</div>
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</div>
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<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
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</div>
|
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</div>
|
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</div>
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<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
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<div class="small">
|
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<div class="row">
|
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<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Microphthalmia, isolated
|
|
- <a href="/phenotypicSeries/PS251600">PS251600</a>
|
|
- 8 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
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|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Phenotype<br />MIM number</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Gene/Locus</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Gene/Locus<br />MIM number</strong>
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<span class="mim-font">
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<a href="/geneMap/2/1112?start=-3&limit=10&highlight=1112"> 2q37.1 </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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<a href="/entry/613517"> Microphthalmia, isolated 6 </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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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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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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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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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/613517"> 613517 </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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<a href="/entry/613858"> PRSS56 </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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<a href="/entry/613858"> 613858 </a>
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</span>
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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/8/420?start=-3&limit=10&highlight=420"> 8q22.1 </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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<a href="/entry/613094"> Microphthalmia, isolated 4 </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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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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<td>
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<span class="mim-font">
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<a href="/entry/613094"> 613094 </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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<a href="/entry/601147"> GDF6 </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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<a href="/entry/601147"> 601147 </a>
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</span>
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</td>
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</tr>
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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/11/1016?start=-3&limit=10&highlight=1016"> 11q23.3 </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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<a href="/entry/611040"> Microphthalmia, isolated 5 </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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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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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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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
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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/611040"> 611040 </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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<a href="/entry/606227"> MFRP </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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<a href="/entry/606227"> 606227 </a>
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</span>
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</td>
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</tr>
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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/12/99?start=-3&limit=10&highlight=99"> 12p13.31 </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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<a href="/entry/613704"> Microphthalmia, isolated 7 </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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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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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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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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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/613704"> 613704 </a>
|
|
</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/606522"> GDF3 </a>
|
|
</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/606522"> 606522 </a>
|
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</span>
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</td>
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</tr>
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|
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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/14/382?start=-3&limit=10&highlight=382"> 14q24.3 </a>
|
|
|
|
</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/610093"> Microphthalmia, isolated 2 </a>
|
|
</span>
|
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</td>
|
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<td>
|
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<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>
|
|
|
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</span>
|
|
</td>
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/610093"> 610093 </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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<a href="/entry/142993"> VSX2 </a>
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/142993"> 142993 </a>
|
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</span>
|
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</td>
|
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</tr>
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|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/14/448?start=-3&limit=10&highlight=448"> 14q32 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/251600"> Microphthalmia, isolated 1 </a>
|
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</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
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</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/251600"> 251600 </a>
|
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</span>
|
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</td>
|
|
<td>
|
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<span class="mim-font">
|
|
<a href="/entry/251600"> MCOP1 </a>
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/251600"> 251600 </a>
|
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</span>
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</td>
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</tr>
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<tr>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<a href="/geneMap/15/546?start=-3&limit=10&highlight=546"> 15q26.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615113"> Microphthalmia, isolated 8 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/615113"> 615113 </a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/600463"> ALDH1A3 </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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<a href="/entry/600463"> 600463 </a>
|
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</span>
|
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</td>
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</tr>
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<tr>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<a href="/geneMap/18/215?start=-3&limit=10&highlight=215"> 18q21.32 </a>
|
|
|
|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611038"> Microphthalmia, syndromic 16 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
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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="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
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</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611038"> 611038 </a>
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/601881"> RAX </a>
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/601881"> 601881 </a>
|
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</span>
|
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</td>
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</tr>
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</tbody>
|
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</table>
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</div>
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<div class="text-right small">
|
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<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
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</div>
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</div>
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</div>
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</div>
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<div>
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<br />
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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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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<strong>TEXT</strong>
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</span>
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</span>
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</h4>
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<div>
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<a id="description" class="mim-anchor"></a>
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>Microphthalmia designates a heterogeneous group of ocular malformations with a more or less evident reduction in the size of the eyeball. Additional features include high hypermetropia and a short axial length. The size of the anterior chamber and the cornea may also be reduced, whereas the lens is normal or thicker than usual for age (summary by <a href="#7" class="mim-tip-reference" title="Fuchs, J., Holm, K., Vilhelmsen, K., Rosenberg, T., Scherfig, E., Fledelius, H. C. <strong>Hereditary high hypermetropia in the Faroe Islands.</strong> Ophthal. Genet. 26: 9-15, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15823920/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15823920</a>] [<a href="https://doi.org/10.1080/13816810590918406" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15823920">Fuchs et al., 2005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15823920" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Genetic Heterogeneity of Isolated Microphthalmia</em></strong></p><p>
|
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MCOP1 has been mapped to chromosome 14q32. MCOP2 (<a href="/entry/610093">610093</a>) is caused by mutation in the CHX10 gene (<a href="/entry/142993">142993</a>) on chromosome 14q24. MCOP4 (<a href="/entry/613094">613094</a>) is caused by mutation in the GDF6 gene (<a href="/entry/601147">601147</a>) on chromosome 8q22. MCOP5 (<a href="/entry/611040">611040</a>) is caused by mutation in the MFRP gene (<a href="/entry/606227">606227</a>) on chromosome 11q23. MCOP6 (<a href="/entry/613517">613517</a>) is caused by mutation in the PRSS56 gene (<a href="/entry/613858">613858</a>) on chromosome 2q37. MCOP7 (<a href="/entry/613704">613704</a>) is caused by mutation in the GDF3 gene (<a href="/entry/606522">606522</a>) on chromosome 12p13. MCOP8 (<a href="/entry/615113">615113</a>) is caused by mutation in the ALDH1A3 gene (<a href="/entry/600463">600463</a>) on chromosome 15q26.</p><p>A disorder formerly designated MCOP3 has been reclassified as syndromic microphthalmia-16 (<a href="/entry/611038">611038</a>).</p>
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</span>
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<div>
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<br />
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<div>
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<a id="nomenclature" class="mim-anchor"></a>
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<h4 href="#mimNomenclatureFold" id="mimNomenclatureToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimNomenclatureToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Nomenclature</strong>
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</span>
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</h4>
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<div id="mimNomenclatureFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p>The term 'anophthalmia' has been misused in the medical literature. True or primary anophthalmia is rarely compatible with life; in such cases, the primary optic vesicle has stopped developing and the abnormal development involves major defects in the brain as well (<a href="#6" class="mim-tip-reference" title="Francois, J. <strong>Heredity in Ophthalmology.</strong> St. Louis: C. V. Mosby (pub.) 1961. P. 173."None>Francois, 1961</a>). The diagnosis can only be made histologically (<a href="#17" class="mim-tip-reference" title="Reddy, M. A., Francis, P. J., Berry, V., Bradshaw, K., Patel, R. J., Maher, E. R., Kumar, R., Bhattacharya, S. S., Moore, A. T. <strong>A clinical and molecular genetic study of a rare dominantly inherited syndrome (MRCS) comprising of (sic) microcornea, rod-cone dystrophy, cataract, and posterior staphyloma.</strong> Brit. J. Ophthal. 87: 197-202, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12543751/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12543751</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12543751[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/bjo.87.2.197" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12543751">Reddy et al., 2003</a>; <a href="#13" class="mim-tip-reference" title="Morini, F., Pacilli, M., Spitz, L. <strong>Bilateral anophthalmia and esophageal atresia: report of a new patient and review of the literature. (Letter)</strong> Am. J. Med. Genet. 132A: 60-62, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15389708/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15389708</a>] [<a href="https://doi.org/10.1002/ajmg.a.30283" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15389708">Morini et al., 2005</a>; <a href="#18" class="mim-tip-reference" title="Smartt, J. M., Jr., Kherani, F., Saddiqi, F., Katowitz, J. A., Bartlett, S. P. <strong>Microphthalmia and synostotic frontal plagiocephaly: a rare clinical entity with implications for craniofacial reconstruction.</strong> Plast. Reconstr. Surg. 116: 1e-9e, 2005. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15988238/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15988238</a>] [<a href="https://doi.org/10.1097/01.prs.0000169706.29344.e4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15988238">Smartt et al., 2005</a>), but this is rarely done. In most published cases, the term 'anophthalmia' is used as a synonym for the more appropriate terms 'extreme microphthalmia' or 'clinical anophthalmia.' <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15988238+15389708+12543751" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#5" class="mim-tip-reference" title="Cecchetto, E. <strong>Dell'anoftalmo congenito familiare.</strong> Arch. Ottal. 27: 114-119, 1920."None>Cecchetto (1920)</a> reported a pedigree in which 2 brothers, each married to a first cousin, had a child with bilateral clinical anophthalmia. The common grandparents were also first cousins. <a href="#9" class="mim-tip-reference" title="Hesselberg, C. <strong>Congenital bilateral anophthalmia.</strong> Acta Ophthal. 29: 183-189, 1951.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14846574/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14846574</a>] [<a href="https://doi.org/10.1111/j.1755-3768.1951.tb05859.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14846574">Hesselberg (1951)</a> reported affected children from first-cousin parents. <a href="#19" class="mim-tip-reference" title="Sorsby, A. <strong>Anophthalmos: unpublished manuscript by James Briggs giving first account of familial occurrence of condition.</strong> Brit. J. Ophthal. 18: 469-472, 1934.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18169220/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18169220</a>] [<a href="https://doi.org/10.1136/bjo.18.8.469" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18169220">Sorsby (1934)</a> discovered early reports of affected sibs with normal parents. <a href="#1" class="mim-tip-reference" title="Ashley, L. M. <strong>Bilateral anophthalmos in brother and sister.</strong> J. Hered. 38: 174-176, 1947.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20257300/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20257300</a>] [<a href="https://doi.org/10.1093/oxfordjournals.jhered.a105721" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20257300">Ashley (1947)</a> reported an affected Japanese brother and sister. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=20257300+18169220+14846574" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#20" class="mim-tip-reference" title="Warburg, M. <strong>Classification of microphthalmos and coloboma.</strong> J. Med. Genet. 30: 664-669, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8411053/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8411053</a>] [<a href="https://doi.org/10.1136/jmg.30.8.664" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8411053">Warburg (1993)</a> gave a comprehensive phenotypic and etiologic classification of microphthalmos and ocular coloboma. She included the description of a consanguineous Arab family showing that the phenotype in autosomal recessive microphthalmos may include congenital cystic eye, anophthalmos, microphthalmos, or coloboma. Some affected family members were mentally retarded, while others were mentally healthy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8411053" 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="#8" class="mim-tip-reference" title="Gill, E. G., Harris, R. B. <strong>Congenital microphthalmos with cyst formation.</strong> Va. Med. Mon. 86: 33-36, 1959.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13616166/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13616166</a>]" pmid="13616166">Gill and Harris (1959)</a> reported a family in which the proband and her great-aunt had microphthalmos. <a href="#21" class="mim-tip-reference" title="Wolff, E. <strong>A microphthalmic family.</strong> Proc. R. Soc. Med. 23: 623-626, 1930.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19987439/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19987439</a>]" pmid="19987439">Wolff (1930)</a> described a family of 10 children whose parents were first cousins and among whom 3 males and 2 females had microphthalmos, high-grade hyperopia (up to +20d), and glaucoma. <a href="#10" class="mim-tip-reference" title="Holst, J. G. <strong>The occurrence of blindness in Norway.</strong> Am. J. Ophthal. 35: 1153-1166, 1952.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14943764/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14943764</a>] [<a href="https://doi.org/10.1016/0002-9394(52)91052-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14943764">Holst (1952)</a> observed 6 cases in 2 related sibships. <a href="#14" class="mim-tip-reference" title="Oliveira da Silva, E., Santana de Sousa, S. <strong>Clinical anophthalmia.</strong> Hum. Genet. 57: 115-116, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7262867/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7262867</a>] [<a href="https://doi.org/10.1007/BF00271183" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7262867">Oliveira da Silva and Santana de Sousa (1981)</a> used the term 'clinical anophthalmia' for this condition, to signify that clinically the eye appears to be absent, whereas in fact it is only very small. They described an instructive inbred kindred with 4 affected individuals in 3 separate sibships. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=19987439+7262867+13616166+14943764" 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="Bessant, D. A. R., Anwar, K., Khaliq, S., Hameed, A., Ismail, M., Payne, A. M., Mehdi, S. Q., Bhattacharya, S. S. <strong>Phenotype of autosomal recessive congenital microphthalmia mapping to chromosome 14q32.</strong> Brit. J. Ophthal. 83: 919-922, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10413693/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10413693</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10413693[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/bjo.83.8.919" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10413693">Bessant et al. (1999)</a> reported the phenotypic findings in affected individuals in a Pakistani family in which microphthalmia showed linkage to 14q32 (<a href="#3" class="mim-tip-reference" title="Bessant, D. A. R., Khaliq, S., Hameed, A., Anwar, K., Mehdi, S. Q., Payne, A. M., Bhattacharya, S. S. <strong>A locus for autosomal recessive congenital microphthalmia maps to chromosome 14q32.</strong> Am. J. Hum. Genet. 62: 1113-1116, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9545413/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9545413</a>] [<a href="https://doi.org/10.1086/301843" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9545413">Bessant et al., 1998</a>). All affected individuals had bilateral microphthalmia associated with anterior segment abnormalities, and the best visual acuity achieved was 'perception of light.' Corneal changes included partial or complete congenital sclerocornea (see <a href="/entry/181700">181700</a> and <a href="/entry/269400">269400</a>), and the later development of corneal vascularization and anterior staphyloma. Intraocular pressure was greatly elevated in many cases. Sclerocornea has been observed in association with microphthalmia as part of the MIDAS (microphthalmia, dermal aplasia, and sclerocornea) syndrome (<a href="/entry/309801">309801</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9545413+10413693" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a consanguineous 5-generation Pakistani family in which 6 living members were affected by isolated congenital microphthalmia, <a href="#3" class="mim-tip-reference" title="Bessant, D. A. R., Khaliq, S., Hameed, A., Anwar, K., Mehdi, S. Q., Payne, A. M., Bhattacharya, S. S. <strong>A locus for autosomal recessive congenital microphthalmia maps to chromosome 14q32.</strong> Am. J. Hum. Genet. 62: 1113-1116, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9545413/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9545413</a>] [<a href="https://doi.org/10.1086/301843" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9545413">Bessant et al. (1998)</a> used whole-genome linkage analysis to map the gene to 14q32. Linkage analysis gave a maximum 2-point lod score of 3.55 for the marker D14S65. Surrounding this marker was a region of homozygosity of 7.3 cM, between markers D14S987 and D14S267, within which the disease gene was predicted to lie. The genes for several eye-specific transcription factors are located on 14q and in the syntenic region of mouse chromosome 12. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9545413" 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="Breitman, M. L., Clapoff, S., Rossant, J., Tsui, L.-C., Glode, L. M., Maxwell, I. H., Bernstein, A. <strong>Genetic ablation: targeted expression of a toxin gene causes microphthalmia in transgenic mice.</strong> Science 238: 1563-1565, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3685993/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3685993</a>] [<a href="https://doi.org/10.1126/science.3685993" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3685993">Breitman et al. (1987)</a> created microphthalmia in transgenic mice by targeting expression of the diphtheria toxin gene. They used the mouse gamma-2-crystallin promoter fused to a gene encoding a site of toxic gene product to target expression of the diphtheria toxin gene to the mouse eye lens. As little as one molecule per cell of the toxin is estimated to be cytotoxic. The process was referred to as genetic ablation. Subsequent generations of mice showed microphthalmia without evidence of other abnormalities. <a href="#15" class="mim-tip-reference" title="Palmiter, R. D., Behringer, R. R., Quaife, C. J., Maxwell, F., Maxwell, I. H., Brinster, R. L. <strong>Cell lineage ablation in transgenic mice by cell-specific expression of a toxin gene.</strong> Cell 50: 435-443, 1987. Note: Erratum: Cell 62: following 608, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3649277/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3649277</a>] [<a href="https://doi.org/10.1016/0092-8674(87)90497-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3649277">Palmiter et al. (1987)</a> independently described a similar method to effect the ablation of cells within the exocrine pancreas. Used for the microinjection was a construct in which the elastase I (<a href="/entry/130120">130120</a>) promoter/enhancer was fused to a gene for diphtheria toxin A polypeptide. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3649277+3685993" 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>The recessive mouse mutation 'or(J),' which causes microphthalmia, progressive destruction of the retina, and absence of the optic nerve, is caused by mutation in the Chx10 gene; see <a href="/entry/142993">142993</a>.</p>
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<a href="#Joseph1957" class="mim-tip-reference" title="Joseph, R. <strong>A pedigree of anophthalmos.</strong> Brit. J. Ophthal. 41: 541-543, 1957.">Joseph (1957)</a>; <a href="#McMillan1921" class="mim-tip-reference" title="McMillan, L. <strong>Anophthalmia and maldevelopment of the eyes: four cases in the same family.</strong> Brit. J. Ophthal. 5: 121-122, 1921.">McMillan (1921)</a>; <a href="#Pearce1974" class="mim-tip-reference" title="Pearce, W. G., Nigam, S., Rootman, J. <strong>Primary anophthalmos: histological and genetic features.</strong> Canad. J. Ophthal. 9: 141-145, 1974.">Pearce et al. (1974)</a>
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J. Hered. 38: 174-176, 1947.
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<strong>Phenotype of autosomal recessive congenital microphthalmia mapping to chromosome 14q32.</strong>
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Brit. J. Ophthal. 83: 919-922, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10413693/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10413693</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10413693[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=10413693" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Bessant, D. A. R., Khaliq, S., Hameed, A., Anwar, K., Mehdi, S. Q., Payne, A. M., Bhattacharya, S. S.
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Am. J. Hum. Genet. 62: 1113-1116, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9545413/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9545413</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9545413" 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/10.1086/301843" target="_blank">Full Text</a>]
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Breitman, M. L., Clapoff, S., Rossant, J., Tsui, L.-C., Glode, L. M., Maxwell, I. H., Bernstein, A.
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<strong>Genetic ablation: targeted expression of a toxin gene causes microphthalmia in transgenic mice.</strong>
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Science 238: 1563-1565, 1987.
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[<a href="https://doi.org/10.1126/science.3685993" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1080/13816810590918406" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1755-3768.1951.tb05859.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0002-9394(52)91052-0" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/bjo.41.9.541" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/bjo.5.3.121" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.30283" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00271183" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0092-8674(87)90497-1" target="_blank">Full Text</a>]
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<a id="Pearce1974" class="mim-anchor"></a>
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<a id="Reddy2003" class="mim-anchor"></a>
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<strong>A clinical and molecular genetic study of a rare dominantly inherited syndrome (MRCS) comprising of (sic) microcornea, rod-cone dystrophy, cataract, and posterior staphyloma.</strong>
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[<a href="https://doi.org/10.1136/bjo.87.2.197" target="_blank">Full Text</a>]
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<a id="Smartt2005" class="mim-anchor"></a>
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Smartt, J. M., Jr., Kherani, F., Saddiqi, F., Katowitz, J. A., Bartlett, S. P.
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<strong>Microphthalmia and synostotic frontal plagiocephaly: a rare clinical entity with implications for craniofacial reconstruction.</strong>
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[<a href="https://doi.org/10.1097/01.prs.0000169706.29344.e4" target="_blank">Full Text</a>]
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<a id="19" class="mim-anchor"></a>
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<a id="Sorsby1934" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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<strong>Anophthalmos: unpublished manuscript by James Briggs giving first account of familial occurrence of condition.</strong>
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[<a href="https://doi.org/10.1136/bjo.18.8.469" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.30.8.664" target="_blank">Full Text</a>]
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<a id="21" class="mim-anchor"></a>
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<a id="Wolff1930" class="mim-anchor"></a>
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<div class="">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</div>
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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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Marla J. F. O'Neill - updated : 3/5/2013
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 4/11/2011<br>Marla J. F. O'Neill - updated : 5/16/2007<br>Marla J. F. O'Neill - reorganized : 6/1/2006<br>Marla J. F. O'Neill - updated : 5/3/2006<br>Victor A. McKusick - updated : 1/11/2005<br>Carol A. Bocchini - updated : 10/12/2001<br>Victor A. McKusick - updated : 11/1/1999<br>Victor A. McKusick - updated : 5/15/1998
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<span class="text-nowrap mim-text-font">
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Creation Date:
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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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Victor A. McKusick : 6/4/1986
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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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 : 09/30/2024
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</span>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 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 : 03/04/2024<br>carol : 11/14/2022<br>alopez : 11/09/2022<br>carol : 08/07/2015<br>alopez : 3/20/2013<br>alopez : 3/7/2013<br>terry : 3/5/2013<br>wwang : 4/11/2011<br>terry : 4/11/2011<br>wwang : 1/20/2011<br>carol : 8/2/2010<br>carol : 10/19/2009<br>carol : 5/17/2007<br>terry : 5/16/2007<br>carol : 6/1/2006<br>carol : 5/16/2006<br>carol : 5/3/2006<br>carol : 5/3/2006<br>carol : 4/26/2006<br>terry : 3/22/2006<br>carol : 8/24/2005<br>alopez : 1/28/2005<br>terry : 1/11/2005<br>joanna : 3/19/2004<br>carol : 6/18/2003<br>carol : 10/12/2001<br>carol : 10/1/2001<br>alopez : 7/31/2000<br>terry : 7/31/2000<br>carol : 11/9/1999<br>terry : 11/1/1999<br>alopez : 6/3/1998<br>terry : 5/15/1998<br>carol : 11/18/1994<br>terry : 11/17/1994<br>pfoster : 3/31/1994<br>mimadm : 2/19/1994<br>carol : 10/7/1993<br>supermim : 3/17/1992
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>%</strong> 251600
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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MICROPHTHALMIA, ISOLATED 1; MCOP1
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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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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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MCOP<br />
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ANOPHTHALMIA, CLINICAL, ISOLATED<br />
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MICROPHTHALMOS, AUTOSOMAL RECESSIVE
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</span>
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</h4>
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</div>
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<div>
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<br />
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<p>
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<span class="mim-text-font">
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<strong>ORPHA:</strong> 2542;
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<strong>DO:</strong> 0060840;
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</span>
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</p>
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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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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 14q32
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Genomic coordinates <span class="small">(GRCh38)</span> : 14:89,300,001-107,043,718 </span>
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</em>
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</strong>
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</span>
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</p>
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype 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 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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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
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14q32
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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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Microphthalmia, isolated 1
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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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251600
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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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Autosomal recessive
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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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2
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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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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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Microphthalmia designates a heterogeneous group of ocular malformations with a more or less evident reduction in the size of the eyeball. Additional features include high hypermetropia and a short axial length. The size of the anterior chamber and the cornea may also be reduced, whereas the lens is normal or thicker than usual for age (summary by Fuchs et al., 2005). </p><p><strong><em>Genetic Heterogeneity of Isolated Microphthalmia</em></strong></p><p>
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MCOP1 has been mapped to chromosome 14q32. MCOP2 (610093) is caused by mutation in the CHX10 gene (142993) on chromosome 14q24. MCOP4 (613094) is caused by mutation in the GDF6 gene (601147) on chromosome 8q22. MCOP5 (611040) is caused by mutation in the MFRP gene (606227) on chromosome 11q23. MCOP6 (613517) is caused by mutation in the PRSS56 gene (613858) on chromosome 2q37. MCOP7 (613704) is caused by mutation in the GDF3 gene (606522) on chromosome 12p13. MCOP8 (615113) is caused by mutation in the ALDH1A3 gene (600463) on chromosome 15q26.</p><p>A disorder formerly designated MCOP3 has been reclassified as syndromic microphthalmia-16 (611038).</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Nomenclature</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The term 'anophthalmia' has been misused in the medical literature. True or primary anophthalmia is rarely compatible with life; in such cases, the primary optic vesicle has stopped developing and the abnormal development involves major defects in the brain as well (Francois, 1961). The diagnosis can only be made histologically (Reddy et al., 2003; Morini et al., 2005; Smartt et al., 2005), but this is rarely done. In most published cases, the term 'anophthalmia' is used as a synonym for the more appropriate terms 'extreme microphthalmia' or 'clinical anophthalmia.' </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Cecchetto (1920) reported a pedigree in which 2 brothers, each married to a first cousin, had a child with bilateral clinical anophthalmia. The common grandparents were also first cousins. Hesselberg (1951) reported affected children from first-cousin parents. Sorsby (1934) discovered early reports of affected sibs with normal parents. Ashley (1947) reported an affected Japanese brother and sister. </p><p>Warburg (1993) gave a comprehensive phenotypic and etiologic classification of microphthalmos and ocular coloboma. She included the description of a consanguineous Arab family showing that the phenotype in autosomal recessive microphthalmos may include congenital cystic eye, anophthalmos, microphthalmos, or coloboma. Some affected family members were mentally retarded, while others were mentally healthy. </p><p>Gill and Harris (1959) reported a family in which the proband and her great-aunt had microphthalmos. Wolff (1930) described a family of 10 children whose parents were first cousins and among whom 3 males and 2 females had microphthalmos, high-grade hyperopia (up to +20d), and glaucoma. Holst (1952) observed 6 cases in 2 related sibships. Oliveira da Silva and Santana de Sousa (1981) used the term 'clinical anophthalmia' for this condition, to signify that clinically the eye appears to be absent, whereas in fact it is only very small. They described an instructive inbred kindred with 4 affected individuals in 3 separate sibships. </p><p>Bessant et al. (1999) reported the phenotypic findings in affected individuals in a Pakistani family in which microphthalmia showed linkage to 14q32 (Bessant et al., 1998). All affected individuals had bilateral microphthalmia associated with anterior segment abnormalities, and the best visual acuity achieved was 'perception of light.' Corneal changes included partial or complete congenital sclerocornea (see 181700 and 269400), and the later development of corneal vascularization and anterior staphyloma. Intraocular pressure was greatly elevated in many cases. Sclerocornea has been observed in association with microphthalmia as part of the MIDAS (microphthalmia, dermal aplasia, and sclerocornea) syndrome (309801). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>In a consanguineous 5-generation Pakistani family in which 6 living members were affected by isolated congenital microphthalmia, Bessant et al. (1998) used whole-genome linkage analysis to map the gene to 14q32. Linkage analysis gave a maximum 2-point lod score of 3.55 for the marker D14S65. Surrounding this marker was a region of homozygosity of 7.3 cM, between markers D14S987 and D14S267, within which the disease gene was predicted to lie. The genes for several eye-specific transcription factors are located on 14q and in the syntenic region of mouse chromosome 12. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Animal Model</strong>
|
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</span>
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>Breitman et al. (1987) created microphthalmia in transgenic mice by targeting expression of the diphtheria toxin gene. They used the mouse gamma-2-crystallin promoter fused to a gene encoding a site of toxic gene product to target expression of the diphtheria toxin gene to the mouse eye lens. As little as one molecule per cell of the toxin is estimated to be cytotoxic. The process was referred to as genetic ablation. Subsequent generations of mice showed microphthalmia without evidence of other abnormalities. Palmiter et al. (1987) independently described a similar method to effect the ablation of cells within the exocrine pancreas. Used for the microinjection was a construct in which the elastase I (130120) promoter/enhancer was fused to a gene for diphtheria toxin A polypeptide. </p><p>The recessive mouse mutation 'or(J),' which causes microphthalmia, progressive destruction of the retina, and absence of the optic nerve, is caused by mutation in the Chx10 gene; see 142993.</p>
|
|
</span>
|
|
<div>
|
|
<br />
|
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</div>
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>See Also:</strong>
|
|
</span>
|
|
</h4>
|
|
<span class="mim-text-font">
|
|
Joseph (1957); McMillan (1921); Pearce et al. (1974)
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
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</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
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<div>
|
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<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ashley, L. M.
|
|
<strong>Bilateral anophthalmos in brother and sister.</strong>
|
|
J. Hered. 38: 174-176, 1947.
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|
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|
[PubMed: 20257300]
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[Full Text: https://doi.org/10.1093/oxfordjournals.jhered.a105721]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Bessant, D. A. R., Anwar, K., Khaliq, S., Hameed, A., Ismail, M., Payne, A. M., Mehdi, S. Q., Bhattacharya, S. S.
|
|
<strong>Phenotype of autosomal recessive congenital microphthalmia mapping to chromosome 14q32.</strong>
|
|
Brit. J. Ophthal. 83: 919-922, 1999.
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[PubMed: 10413693]
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[Full Text: https://doi.org/10.1136/bjo.83.8.919]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Bessant, D. A. R., Khaliq, S., Hameed, A., Anwar, K., Mehdi, S. Q., Payne, A. M., Bhattacharya, S. S.
|
|
<strong>A locus for autosomal recessive congenital microphthalmia maps to chromosome 14q32.</strong>
|
|
Am. J. Hum. Genet. 62: 1113-1116, 1998.
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|
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|
|
[PubMed: 9545413]
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[Full Text: https://doi.org/10.1086/301843]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Breitman, M. L., Clapoff, S., Rossant, J., Tsui, L.-C., Glode, L. M., Maxwell, I. H., Bernstein, A.
|
|
<strong>Genetic ablation: targeted expression of a toxin gene causes microphthalmia in transgenic mice.</strong>
|
|
Science 238: 1563-1565, 1987.
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|
[PubMed: 3685993]
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[Full Text: https://doi.org/10.1126/science.3685993]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Cecchetto, E.
|
|
<strong>Dell'anoftalmo congenito familiare.</strong>
|
|
Arch. Ottal. 27: 114-119, 1920.
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Francois, J.
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|
<strong>Heredity in Ophthalmology.</strong>
|
|
St. Louis: C. V. Mosby (pub.) 1961. P. 173.
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Fuchs, J., Holm, K., Vilhelmsen, K., Rosenberg, T., Scherfig, E., Fledelius, H. C.
|
|
<strong>Hereditary high hypermetropia in the Faroe Islands.</strong>
|
|
Ophthal. Genet. 26: 9-15, 2005.
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|
[PubMed: 15823920]
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[Full Text: https://doi.org/10.1080/13816810590918406]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Gill, E. G., Harris, R. B.
|
|
<strong>Congenital microphthalmos with cyst formation.</strong>
|
|
Va. Med. Mon. 86: 33-36, 1959.
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[PubMed: 13616166]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Hesselberg, C.
|
|
<strong>Congenital bilateral anophthalmia.</strong>
|
|
Acta Ophthal. 29: 183-189, 1951.
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|
|
|
|
[PubMed: 14846574]
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[Full Text: https://doi.org/10.1111/j.1755-3768.1951.tb05859.x]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Holst, J. G.
|
|
<strong>The occurrence of blindness in Norway.</strong>
|
|
Am. J. Ophthal. 35: 1153-1166, 1952.
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|
[PubMed: 14943764]
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[Full Text: https://doi.org/10.1016/0002-9394(52)91052-0]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Joseph, R.
|
|
<strong>A pedigree of anophthalmos.</strong>
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McMillan, L.
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Hum. Genet. 57: 115-116, 1981.
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Palmiter, R. D., Behringer, R. R., Quaife, C. J., Maxwell, F., Maxwell, I. H., Brinster, R. L.
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<strong>Cell lineage ablation in transgenic mice by cell-specific expression of a toxin gene.</strong>
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Cell 50: 435-443, 1987. Note: Erratum: Cell 62: following 608, 1990.
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Canad. J. Ophthal. 9: 141-145, 1974.
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Reddy, M. A., Francis, P. J., Berry, V., Bradshaw, K., Patel, R. J., Maher, E. R., Kumar, R., Bhattacharya, S. S., Moore, A. T.
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<strong>A clinical and molecular genetic study of a rare dominantly inherited syndrome (MRCS) comprising of (sic) microcornea, rod-cone dystrophy, cataract, and posterior staphyloma.</strong>
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Smartt, J. M., Jr., Kherani, F., Saddiqi, F., Katowitz, J. A., Bartlett, S. P.
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Sorsby, A.
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<strong>Anophthalmos: unpublished manuscript by James Briggs giving first account of familial occurrence of condition.</strong>
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Brit. J. Ophthal. 18: 469-472, 1934.
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Marla J. F. O'Neill - updated : 3/5/2013<br>Marla J. F. O'Neill - updated : 4/11/2011<br>Marla J. F. O'Neill - updated : 5/16/2007<br>Marla J. F. O'Neill - reorganized : 6/1/2006<br>Marla J. F. O'Neill - updated : 5/3/2006<br>Victor A. McKusick - updated : 1/11/2005<br>Carol A. Bocchini - updated : 10/12/2001<br>Victor A. McKusick - updated : 11/1/1999<br>Victor A. McKusick - updated : 5/15/1998
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