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Entry
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- #300071 - NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A; CSNB2A
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- OMIM
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<p>
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<span class="h4">#300071</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<li role="presentation">
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<a href="/clinicalSynopsis/300071"><strong>Clinical Synopsis</strong></a>
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<li role="presentation">
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<a href="/phenotypicSeries/PS310500"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#pathogenesis">Pathogenesis</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div style="display: table-cell;">External Links</div>
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</a>
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</h4>
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</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 id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE" 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=923&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1245/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/8082" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=300071[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=215" 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 class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0110871" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="http://www.informatics.jax.org/disease/300071" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0110871" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 215<br />
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<strong>DO:</strong> 0110871<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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300071
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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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NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A; CSNB2A
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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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CSNB, INCOMPLETE, X-LINKED<br />
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NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2; CSNB2
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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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<a id="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
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<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
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</span>
|
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</h4>
|
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</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>
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<span class="mim-font">
|
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<a href="/geneMap/X/275?start=-3&limit=10&highlight=275">
|
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Xp11.23
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</a>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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Night blindness, congenital stationary (incomplete), 2A, X-linked
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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/300071"> 300071 </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="X-linked">XL</abbr>
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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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CACNA1F
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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/300110"> 300110 </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>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/300071" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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<div class="btn-group">
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<a href="/phenotypicSeries/PS310500" class="btn btn-info" role="button"> Phenotypic Series </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
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<li><a href="/graph/linear/300071" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/300071" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</div>
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<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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<p />
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
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<div class="small" style="margin: 5px">
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> Eyes </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Congenital stationary night blindness <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/232061009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">232061009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0339535&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0339535</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007642" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007642</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007642" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007642</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 /> - Loss of night vision <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/65194006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">65194006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H53.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H53.6</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H53.60" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H53.60</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/368.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">368.6</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/368.60" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">368.60</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0028077&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0028077</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000662" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000662</a>]</span><br />
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</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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<span class="h5 mim-font">
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<strong> Inheritance </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- X-linked form <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263934009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263934009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241764&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241764</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001417" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001417</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001417" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001417</a>]</span><br /> - heterogeneous <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0019409&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019409</a>]</span><br />
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</span>
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</div>
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</div>
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<div class="text-right">
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<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">
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<h5>
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Night blindness, congenital stationary
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- <a href="/phenotypicSeries/PS310500">PS310500</a>
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- 15 Entries
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</h5>
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</div>
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</div>
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<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
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<table class="table table-bordered table-condensed table-hover mim-table-padding">
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<thead>
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<tr>
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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>Location</strong>
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</th>
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<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
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<strong>Phenotype</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>Inheritance</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>Phenotype<br />mapping key</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>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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<td>
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<span class="mim-font">
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<a href="/geneMap/2/1127?start=-3&limit=10&highlight=1127"> 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/258100"> Oguchi disease-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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<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="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/258100"> 258100 </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/181031"> SAG </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/181031"> 181031 </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/3/330?start=-3&limit=10&highlight=330"> 3p21.31 </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/610444"> Night blindness, congenital stationary, autosomal dominant 3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
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<span class="mim-font">
|
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|
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</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="3 - The molecular basis of the disorder is known"> 3 </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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<a href="/entry/610444"> 610444 </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/139330"> GNAT1 </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/139330"> 139330 </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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|
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<a href="/geneMap/3/330?start=-3&limit=10&highlight=330"> 3p21.31 </a>
|
|
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616389"> Night blindness, congenital stationary, type 1G </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</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>
|
|
|
|
</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/616389"> 616389 </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/139330"> GNAT1 </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/139330"> 139330 </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/3/670?start=-3&limit=10&highlight=670"> 3q22.1 </a>
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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/610445"> Night blindness, congenital stationary, autosomal dominant 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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<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>
|
|
<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>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610445"> 610445 </a>
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
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<a href="/entry/180380"> RHO </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/180380"> 180380 </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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|
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<a href="/geneMap/4/12?start=-3&limit=10&highlight=12"> 4p16.3 </a>
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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/163500"> Night blindness, congenital stationary, autosomal dominant 2 </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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|
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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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|
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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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|
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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/163500"> 163500 </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/180072"> PDE6B </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/180072"> 180072 </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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|
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<a href="/geneMap/4/485?start=-3&limit=10&highlight=485"> 4q25 </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/615058"> Night blindness, congenital stationary (complete), 1F, autosomal recessive </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</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/615058"> 615058 </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/615004"> LRIT3 </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/615004"> 615004 </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/5/827?start=-3&limit=10&highlight=827"> 5q35.3 </a>
|
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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/257270"> Night blindness, congenital stationary (complete), 1B, autosomal recessive </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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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
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<a href="/entry/257270"> 257270 </a>
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<span class="mim-font">
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<a href="/entry/604096"> GRM6 </a>
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<span class="mim-font">
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<a href="/entry/604096"> 604096 </a>
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<span class="mim-font">
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<a href="/geneMap/12/72?start=-3&limit=10&highlight=72"> 12p13.31 </a>
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<span class="mim-font">
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<a href="/entry/617024"> Night blindness, congenital stationary, type 1H </a>
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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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<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 class="mim-font">
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<a href="/entry/617024"> 617024 </a>
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</span>
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<span class="mim-font">
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<a href="/entry/139130"> GNB3 </a>
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<span class="mim-font">
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<a href="/entry/139130"> 139130 </a>
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<a href="/geneMap/13/331?start=-3&limit=10&highlight=331"> 13q34 </a>
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<span class="mim-font">
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<a href="/entry/613411"> Oguchi disease-2 </a>
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<span class="mim-font">
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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 class="mim-font">
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<a href="/entry/613411"> 613411 </a>
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<span class="mim-font">
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<a href="/entry/180381"> GRK1 </a>
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<span class="mim-font">
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<a href="/entry/180381"> 180381 </a>
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<span class="mim-font">
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<a href="/geneMap/15/54?start=-3&limit=10&highlight=54"> 15q13.3 </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/613216"> Night blindness, congenital stationary (complete), 1C, autosomal recessive </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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<span class="mim-font">
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<a href="/entry/613216"> 613216 </a>
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</span>
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<span class="mim-font">
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<a href="/entry/603576"> TRPM1 </a>
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<span class="mim-font">
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<a href="/entry/603576"> 603576 </a>
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<span class="mim-font">
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<a href="/geneMap/15/304?start=-3&limit=10&highlight=304"> 15q22.31 </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/613830"> Night blindness, congenital stationary (complete), 1D, autosomal recessive </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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<span class="mim-font">
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<a href="/entry/613830"> 613830 </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/603617"> SLC24A1 </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/603617"> 603617 </a>
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<span class="mim-font">
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<a href="/geneMap/17/186?start=-3&limit=10&highlight=186"> 17p13.1 </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/618555"> Night blindness, congenital stationary, type 1I </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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<span class="mim-font">
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<a href="/entry/618555"> 618555 </a>
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<td>
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<span class="mim-font">
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<a href="/entry/600179"> GUCY2D </a>
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<td>
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<span class="mim-font">
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<a href="/entry/600179"> 600179 </a>
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<span class="mim-font">
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<a href="/geneMap/17/465?start=-3&limit=10&highlight=465"> 17q12 </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/614565"> Night blindness, congenital stationary (complete), 1E, autosomal recessive </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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<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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<span class="mim-font">
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<a href="/entry/614565"> 614565 </a>
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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/614515"> GPR179 </a>
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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/614515"> 614515 </a>
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<span class="mim-font">
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<a href="/geneMap/X/179?start=-3&limit=10&highlight=179"> Xp11.4 </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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<a href="/entry/310500"> Night blindness, congenital stationary (complete), 1A, X-linked </a>
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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="X-linked recessive">XLR</abbr>
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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 class="mim-font">
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<a href="/entry/310500"> 310500 </a>
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</span>
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<span class="mim-font">
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<a href="/entry/300278"> NYX </a>
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<span class="mim-font">
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<a href="/entry/300278"> 300278 </a>
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<span class="mim-font">
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<a href="/geneMap/X/275?start=-3&limit=10&highlight=275"> Xp11.23 </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/300071"> Night blindness, congenital stationary (incomplete), 2A, X-linked </a>
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</span>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="X-linked">XL</abbr>
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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 class="mim-font">
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<a href="/entry/300071"> 300071 </a>
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</span>
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<span class="mim-font">
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<a href="/entry/300110"> CACNA1F </a>
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<span class="mim-font">
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<a href="/entry/300110"> 300110 </a>
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</table>
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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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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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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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</h4>
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<p>A number sign (#) is used with this entry because of evidence that type 2 (incomplete) X-linked congenital stationary night blindness is caused by mutation in the retina-specific calcium channel alpha-1-subunit gene (CACNA1F; <a href="/entry/300110">300110</a>). Aland Island eye disease (<a href="/entry/300600">300600</a>), which has a similar phenotype, is caused by mutation in the same gene.</p><p>For a general phenotypic description and discussion of genetic heterogeneity of congenital stationary night blindness, see CSNB1A (<a href="/entry/310500">310500</a>).</p>
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<br />
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<a id="clinicalFeatures" class="mim-anchor"></a>
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<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>Clinical Features</strong>
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<p>X-linked congenital stationary night blindness is a nonprogressive retinal disorder characterized by decreased visual acuity and loss of night vision. <a href="#4" class="mim-tip-reference" title="Bergen, A. A. B., ten Brink, J. B., Riemslag, F., Schuurman, E. J. M., Tijmes, N. <strong>Localization of a novel X-linked congenital stationary night blindness locus: close linkage to the RP3 type retinitis pigmentosa gene region.</strong> Hum. Molec. Genet. 4: 931-935, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7633454/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7633454</a>] [<a href="https://doi.org/10.1093/hmg/4.5.931" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7633454">Bergen et al. (1995)</a> stated that X-linked CSNB (CSNBX) is clinically heterogeneous with respect to the involvement of retinal rods and/or cones in the disease. The classic form of X-linked congenital stationary night blindness (CSNB1; <a href="/entry/310500">310500</a>) is associated with myopia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7633454" 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>All affected members of the family mapped by <a href="#3" class="mim-tip-reference" title="Bergen, A. A. B., ten Brink, J. B., Riemslag, F., Schuurman, E. J. M., Meire, F., Tijmes, N., de Jong, P. T. V. M. <strong>Conclusive evidence for a distinct congenital stationary night blindness locus in Xp21.1.</strong> J. Med. Genet. 33: 869-872, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8933343/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8933343</a>] [<a href="https://doi.org/10.1136/jmg.33.10.869" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8933343">Bergen et al. (1996)</a> to Xp21.1 had myopia and a fine horizontal nystagmus. None of them experienced deterioration, during an average follow-up of 5 years, of their visual acuity or ERG recordings. The 6 obligate carriers and 1 possible carrier had normal visual acuity, no myopia, and no abnormalities on ERG. The affected males, apart from night blindness as shown by the dark adaptation curves, had no clinical or electrophysiologic signs of retinitis pigmentosa. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8933343" 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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<br />
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<a id="mapping" class="mim-anchor"></a>
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<strong>Mapping</strong>
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</h4>
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<div id="mimMappingFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p>The classic form of X-linked congenital stationary night blindness, CSNB1, shows mapping to Xp11.3. <a href="#4" class="mim-tip-reference" title="Bergen, A. A. B., ten Brink, J. B., Riemslag, F., Schuurman, E. J. M., Tijmes, N. <strong>Localization of a novel X-linked congenital stationary night blindness locus: close linkage to the RP3 type retinitis pigmentosa gene region.</strong> Hum. Molec. Genet. 4: 931-935, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7633454/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7633454</a>] [<a href="https://doi.org/10.1093/hmg/4.5.931" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7633454">Bergen et al. (1995)</a> localized a new locus for CSNBX to Xp21.1, thus providing evidence that X-linked CSNB is genetically as well as clinically heterogeneous. No clear correlation could be found between phenotypic differences and different map locations. The new CSNBX gene was closely linked to the RP3 gene region (see <a href="/entry/312610">312610</a>), which supported the hypothesis that there is a functional relationship between congenital stationary night blindness and retinitis pigmentosa. Such a relationship is indicated by the fact that some mutations in the rhodopsin gene (RHO; <a href="/entry/180380">180380</a>) cause congenital stationary night blindness (see <a href="/entry/610445">610445</a>), although most cause retinitis pigmentosa. Autosomal dominant congenital stationary night blindness has also been related to mutations in the PDEB gene (<a href="/entry/180072">180072</a>), which maps to 4p16.3. Other mutations in the PDEB gene cause autosomal recessive retinitis pigmentosa. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7633454" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Bergen, A. A. B., ten Brink, J. B., Riemslag, F., Schuurman, E. J. M., Meire, F., Tijmes, N., de Jong, P. T. V. M. <strong>Conclusive evidence for a distinct congenital stationary night blindness locus in Xp21.1.</strong> J. Med. Genet. 33: 869-872, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8933343/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8933343</a>] [<a href="https://doi.org/10.1136/jmg.33.10.869" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8933343">Bergen et al. (1996)</a> reported findings they considered conclusive evidence for a distinct congenital stationary night blindness locus in Xp21.1. They described the results of linkage analysis in another large family, confirming the findings in the first family. The second locus is closely linked to the X-linked retinitis pigmentosa type 3 gene (RPGR; <a href="/entry/312610">312610</a>) in Xp21.1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8933343" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Boycott, K. M., Pearce, W. G., Musarella, M. A., Weleber, R. G., Maybaum, T. A., Birch, D. G., Miyake, Y., Young, R. S. L., Bech-Hansen, N. T. <strong>Evidence for genetic heterogeneity in X-linked congenital stationary night blindness.</strong> Am. J. Hum. Genet. 62: 865-875, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9529339/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9529339</a>] [<a href="https://doi.org/10.1086/301781" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9529339">Boycott et al. (1998)</a> studied 32 families with X-linked CSNB, including 11 families with the complete form of CSNB and 21 families with the incomplete form. Critical recombination events in the families with complete CSNB localized a disease gene to the region between DXS556 and DXS8083, in Xp11.4-p11.3. The critical recombination events in the set of families with incomplete CSNB localized a disease gene to the region between DXS722 and DXS8023 in Xp11.23. Further analysis of the incomplete CSNB families by means of disease associated-haplotype construction identified 17 families of apparent Mennonite ancestry that shared portions of an ancestral chromosome. The results of this analysis refined the location of the gene for incomplete CSNB to the region between DXS722 and DXS255, a distance of 1.2 Mb. Genetic and clinical analyses of this set of 32 families with X-linked CSNB, together with the family studies reported in the literature, strongly suggest that 2 loci, 1 for complete (CSNB1; <a href="/entry/310500">310500</a>) and 1 for incomplete (CSNB2) X-linked CSNB, can account for all reported mapping information. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9529339" 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="#6" class="mim-tip-reference" title="Hardcastle, A. J., David-Gray, Z. K., Jay, M., Bird, A. C., Bhattacharya, S. S. <strong>Localization of CSNBX (CSNB4) between the retinitis pigmentosa loci RP2 and RP3 on proximal Xp.</strong> Invest. Ophthal. Vis. Sci. 38: 2750-2755, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9418727/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9418727</a>]" pmid="9418727">Hardcastle et al. (1997)</a> used the symbol CSNB4 for a second form of CSNB encoded by a gene on Xp. They described a new location for the form of CSNB on the proximal part of Xp, Xp11.4-p11.3, between the RP2 (<a href="/entry/312600">312600</a>) and RP3 loci. They found that 'CSNB4' is not allelic with any previously reported X-linked RP loci; however, the interval overlapped the locus reported to contain the CORDX1 gene (<a href="/entry/304020">304020</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9418727" 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>Conducting mutation analysis in 13 families with the incomplete form of X-linked congenital stationary night blindness type 2, <a href="#9" class="mim-tip-reference" title="Strom, T. M., Nyakatura, G., Apfelstedt-Sylla, E., Hellebrand, H., Lorenz, B., Weber, B. H. F., Wutz, K., Gutwillinger, N., Ruther, K., Drescher, B., Sauer, C., Zrenner, E., Meitinger, T., Rosenthal, A., Meindl, A. <strong>An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness.</strong> Nature Genet. 19: 260-263, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9662399/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9662399</a>] [<a href="https://doi.org/10.1038/940" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9662399">Strom et al. (1998)</a> identified 9 different mutations in the CACNA1F gene in 10 families, including 3 nonsense and 1 frameshift mutation (see, e.g., <a href="/entry/300110#0001">300110.0001</a>-<a href="/entry/300110#0002">300110.0002</a>). Similarly, by mutation analysis of the CACNA1F gene in 20 families with incomplete CSNB, <a href="#2" class="mim-tip-reference" title="Bech-Hansen, N. T., Naylor, M. J., Maybaum, T. A., Pearce, W. G., Koop, B., Fishman, G. A., Mets, M., Musarella, M. A., Boycott, K. M. <strong>Loss-of-function mutations in a calcium-channel alpha-1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness.</strong> Nature Genet. 19: 264-267, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9662400/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9662400</a>] [<a href="https://doi.org/10.1038/947" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9662400">Bech-Hansen et al. (1998)</a> found 6 different mutations, all of which predicted premature protein truncation (see, e.g., <a href="/entry/300110#0003">300110.0003</a>-<a href="/entry/300110#0004">300110.0004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9662400+9662399" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 7 Japanese patients from 5 unrelated families with incomplete CSNB, <a href="#8" class="mim-tip-reference" title="Nakamura, M., Ito, S., Terasaki, H., Miyake, Y. <strong>Novel CACNA1F mutations in Japanese patients with incomplete congenital stationary night blindness.</strong> Invest. Ophthal. Vis. Sci. 42: 1610-1616, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11381068/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11381068</a>]" pmid="11381068">Nakamura et al. (2001)</a> identified 5 different mutations in the CACNA1F gene. Clinically, each patient had essentially normal fundi, mildly reduced corrected visual acuity, and slight myopia or hyperopia with astigmatism. Electrophysiologically, the mixed rod-cone ERG showed a negative configuration with recordable oscillatory potentials. The rod ERG was recordable but subnormal, and the cone and 30-Hz flicker ERGs were markedly depressed. <a href="#8" class="mim-tip-reference" title="Nakamura, M., Ito, S., Terasaki, H., Miyake, Y. <strong>Novel CACNA1F mutations in Japanese patients with incomplete congenital stationary night blindness.</strong> Invest. Ophthal. Vis. Sci. 42: 1610-1616, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11381068/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11381068</a>]" pmid="11381068">Nakamura et al. (2001)</a> concluded that in most Japanese patients with incomplete CSNB, the phenotype is caused by mutation in the CACNA1F gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11381068" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The key symptoms of CSNB2 are impaired night vision and decreased visual acuity. The electrophysiologic hallmark is the Schubert and Bornschein type electroretinogram, in which the amplitude of the scotopic b-wave is smaller than that of the normal-sized a-wave. This finding suggests that the pathologic correlate of the disease is localized most likely at the photoreceptor-to-bipolar synapse. <a href="#1" class="mim-tip-reference" title="Baumann, L., Gerstner, A., Zong, X., Biel, M., Wahl-Schott, C. <strong>Functional characterization of the L-type Ca(2+) channel Cav1.4-alpha-1 from the mouse retina.</strong> Invest. Ophthal. Vis. Sci. 45: 708-713, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14744918/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14744918</a>] [<a href="https://doi.org/10.1167/iovs.03-0937" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14744918">Baumann et al. (2004)</a> found that the CACNA1F protein constitutes the major molecular correlate of the retinal L-type calcium current. Its intrinsic biophysical properties, in particular its unique inactivation properties, enable it to provide a sustained calcium current over the voltage range required for tonic glutamate release at the photoreceptor synapse. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14744918" 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="#7" class="mim-tip-reference" title="Mansergh, F., Orton, N. C., Vessey, J. P., Lalonde, M. R., Stell, W. K., Tremblay, F., Barnes, S., Rancourt, D. E., Bech-Hansen, N. T. <strong>Mutation of the calcium channel gene Cacna1f disrupts calcium signaling, synaptic transmission and cellular organization in mouse retina.</strong> Hum. Molec. Genet. 14: 3035-3046, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16155113/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16155113</a>] [<a href="https://doi.org/10.1093/hmg/ddi336" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16155113">Mansergh et al. (2005)</a> generated a mouse with a loss-of-function mutation in exon 7 of the mouse Cacna1f gene. Electroretinography of the mutant mouse revealed a scotopic a-wave of marginally reduced amplitude compared with the wildtype mouse and absence of the postreceptoral b-wave and oscillatory potentials. Cone ERG responses together with visual evoked potentials and multi-unit activity in the superior colliculus were also absent. Calcium imaging of retinal slices depolarized with KCl showed 90% less peak signal in the photoreceptor synapses of the Cacna1f mutant than in wildtype mice. The absence of postreceptoral ERG responses and the diminished photoreceptor calcium signals were consistent with a loss of Ca(2+) channel function in photoreceptors. Immunocytochemistry showed no detectable Cav1.4 protein in the outer plexiform layer of Cacna1f-mutant mice, profound loss of photoreceptor synapses, and abnormal dendritic sprouting of second-order neurons in the photoreceptor layer. <a href="#7" class="mim-tip-reference" title="Mansergh, F., Orton, N. C., Vessey, J. P., Lalonde, M. R., Stell, W. K., Tremblay, F., Barnes, S., Rancourt, D. E., Bech-Hansen, N. T. <strong>Mutation of the calcium channel gene Cacna1f disrupts calcium signaling, synaptic transmission and cellular organization in mouse retina.</strong> Hum. Molec. Genet. 14: 3035-3046, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16155113/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16155113</a>] [<a href="https://doi.org/10.1093/hmg/ddi336" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16155113">Mansergh et al. (2005)</a> concluded that the Cav1.4 calcium channel is vital for the functional assembly and/or maintenance and synaptic functions of photoreceptor ribbon synapses. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16155113" 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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Invest. Ophthal. Vis. Sci. 45: 708-713, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14744918/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14744918</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14744918" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>Loss-of-function mutations in a calcium-channel alpha-1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness.</strong>
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Nature Genet. 19: 264-267, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9662400/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9662400</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9662400" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>Conclusive evidence for a distinct congenital stationary night blindness locus in Xp21.1.</strong>
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J. Med. Genet. 33: 869-872, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8933343/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8933343</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8933343" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Bergen, A. A. B., ten Brink, J. B., Riemslag, F., Schuurman, E. J. M., Tijmes, N.
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<strong>Localization of a novel X-linked congenital stationary night blindness locus: close linkage to the RP3 type retinitis pigmentosa gene region.</strong>
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Hum. Molec. Genet. 4: 931-935, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7633454/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7633454</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7633454" 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/10.1093/hmg/4.5.931" target="_blank">Full Text</a>]
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<a id="5" class="mim-anchor"></a>
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<a id="Boycott1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Boycott, K. M., Pearce, W. G., Musarella, M. A., Weleber, R. G., Maybaum, T. A., Birch, D. G., Miyake, Y., Young, R. S. L., Bech-Hansen, N. T.
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<strong>Evidence for genetic heterogeneity in X-linked congenital stationary night blindness.</strong>
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Am. J. Hum. Genet. 62: 865-875, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9529339/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9529339</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9529339" 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/10.1086/301781" target="_blank">Full Text</a>]
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<a id="6" class="mim-anchor"></a>
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<a id="Hardcastle1997" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Hardcastle, A. J., David-Gray, Z. K., Jay, M., Bird, A. C., Bhattacharya, S. S.
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<strong>Localization of CSNBX (CSNB4) between the retinitis pigmentosa loci RP2 and RP3 on proximal Xp.</strong>
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Invest. Ophthal. Vis. Sci. 38: 2750-2755, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9418727/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9418727</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9418727" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Mansergh2005" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Mansergh, F., Orton, N. C., Vessey, J. P., Lalonde, M. R., Stell, W. K., Tremblay, F., Barnes, S., Rancourt, D. E., Bech-Hansen, N. T.
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<strong>Mutation of the calcium channel gene Cacna1f disrupts calcium signaling, synaptic transmission and cellular organization in mouse retina.</strong>
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Hum. Molec. Genet. 14: 3035-3046, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16155113/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16155113</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16155113" 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/10.1093/hmg/ddi336" target="_blank">Full Text</a>]
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<a id="Nakamura2001" class="mim-anchor"></a>
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<p class="mim-text-font">
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Nakamura, M., Ito, S., Terasaki, H., Miyake, Y.
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<strong>Novel CACNA1F mutations in Japanese patients with incomplete congenital stationary night blindness.</strong>
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Invest. Ophthal. Vis. Sci. 42: 1610-1616, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11381068/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11381068</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11381068" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Strom1998" class="mim-anchor"></a>
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Strom, T. M., Nyakatura, G., Apfelstedt-Sylla, E., Hellebrand, H., Lorenz, B., Weber, B. H. F., Wutz, K., Gutwillinger, N., Ruther, K., Drescher, B., Sauer, C., Zrenner, E., Meitinger, T., Rosenthal, A., Meindl, A.
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<strong>An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness.</strong>
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Nature Genet. 19: 260-263, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9662399/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9662399</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9662399" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/940" target="_blank">Full Text</a>]
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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 : 3/24/2011
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<span class="mim-text-font">
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George E. Tiller - updated : 6/25/2009<br>Anne M. Stumpf - updated : 7/28/2005<br>Jane Kelly - updated : 2/23/2004<br>Victor A. McKusick - updated : 4/12/1999<br>Victor A. McKusick - updated : 6/23/1998<br>Victor A. McKusick - updated : 5/13/1998
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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 : 11/25/1996
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alopez : 03/29/2011
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terry : 3/24/2011<br>alopez : 7/14/2009<br>wwang : 6/25/2009<br>carol : 10/31/2007<br>alopez : 10/3/2006<br>alopez : 9/26/2006<br>alopez : 9/25/2006<br>alopez : 7/28/2005<br>tkritzer : 2/23/2004<br>carol : 2/5/2004<br>alopez : 4/18/2002<br>carol : 4/12/1999<br>carol : 4/12/1999<br>alopez : 6/29/1998<br>terry : 6/23/1998<br>terry : 6/17/1998<br>alopez : 5/20/1998<br>alopez : 5/19/1998<br>terry : 5/13/1998<br>mark : 8/1/1997<br>terry : 12/18/1996<br>joanna : 11/25/1996
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<span class="mim-font">
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<strong>#</strong> 300071
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<h3>
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NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A; CSNB2A
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<em>Alternative titles; symbols</em>
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CSNB, INCOMPLETE, X-LINKED<br />
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NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2; CSNB2
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<strong>ORPHA:</strong> 215;
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<strong>DO:</strong> 0110871;
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<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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<span class="mim-font">
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Xp11.23
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<span class="mim-font">
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Night blindness, congenital stationary (incomplete), 2A, X-linked
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<span class="mim-font">
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300071
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<span class="mim-font">
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X-linked
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<span class="mim-font">
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3
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CACNA1F
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300110
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that type 2 (incomplete) X-linked congenital stationary night blindness is caused by mutation in the retina-specific calcium channel alpha-1-subunit gene (CACNA1F; 300110). Aland Island eye disease (300600), which has a similar phenotype, is caused by mutation in the same gene.</p><p>For a general phenotypic description and discussion of genetic heterogeneity of congenital stationary night blindness, see CSNB1A (310500).</p>
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<strong>Clinical Features</strong>
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<p>X-linked congenital stationary night blindness is a nonprogressive retinal disorder characterized by decreased visual acuity and loss of night vision. Bergen et al. (1995) stated that X-linked CSNB (CSNBX) is clinically heterogeneous with respect to the involvement of retinal rods and/or cones in the disease. The classic form of X-linked congenital stationary night blindness (CSNB1; 310500) is associated with myopia. </p><p>All affected members of the family mapped by Bergen et al. (1996) to Xp21.1 had myopia and a fine horizontal nystagmus. None of them experienced deterioration, during an average follow-up of 5 years, of their visual acuity or ERG recordings. The 6 obligate carriers and 1 possible carrier had normal visual acuity, no myopia, and no abnormalities on ERG. The affected males, apart from night blindness as shown by the dark adaptation curves, had no clinical or electrophysiologic signs of retinitis pigmentosa. </p>
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<strong>Mapping</strong>
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<p>The classic form of X-linked congenital stationary night blindness, CSNB1, shows mapping to Xp11.3. Bergen et al. (1995) localized a new locus for CSNBX to Xp21.1, thus providing evidence that X-linked CSNB is genetically as well as clinically heterogeneous. No clear correlation could be found between phenotypic differences and different map locations. The new CSNBX gene was closely linked to the RP3 gene region (see 312610), which supported the hypothesis that there is a functional relationship between congenital stationary night blindness and retinitis pigmentosa. Such a relationship is indicated by the fact that some mutations in the rhodopsin gene (RHO; 180380) cause congenital stationary night blindness (see 610445), although most cause retinitis pigmentosa. Autosomal dominant congenital stationary night blindness has also been related to mutations in the PDEB gene (180072), which maps to 4p16.3. Other mutations in the PDEB gene cause autosomal recessive retinitis pigmentosa. </p><p>Bergen et al. (1996) reported findings they considered conclusive evidence for a distinct congenital stationary night blindness locus in Xp21.1. They described the results of linkage analysis in another large family, confirming the findings in the first family. The second locus is closely linked to the X-linked retinitis pigmentosa type 3 gene (RPGR; 312610) in Xp21.1. </p><p>Boycott et al. (1998) studied 32 families with X-linked CSNB, including 11 families with the complete form of CSNB and 21 families with the incomplete form. Critical recombination events in the families with complete CSNB localized a disease gene to the region between DXS556 and DXS8083, in Xp11.4-p11.3. The critical recombination events in the set of families with incomplete CSNB localized a disease gene to the region between DXS722 and DXS8023 in Xp11.23. Further analysis of the incomplete CSNB families by means of disease associated-haplotype construction identified 17 families of apparent Mennonite ancestry that shared portions of an ancestral chromosome. The results of this analysis refined the location of the gene for incomplete CSNB to the region between DXS722 and DXS255, a distance of 1.2 Mb. Genetic and clinical analyses of this set of 32 families with X-linked CSNB, together with the family studies reported in the literature, strongly suggest that 2 loci, 1 for complete (CSNB1; 310500) and 1 for incomplete (CSNB2) X-linked CSNB, can account for all reported mapping information. </p><p>Hardcastle et al. (1997) used the symbol CSNB4 for a second form of CSNB encoded by a gene on Xp. They described a new location for the form of CSNB on the proximal part of Xp, Xp11.4-p11.3, between the RP2 (312600) and RP3 loci. They found that 'CSNB4' is not allelic with any previously reported X-linked RP loci; however, the interval overlapped the locus reported to contain the CORDX1 gene (304020). </p>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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<p>Conducting mutation analysis in 13 families with the incomplete form of X-linked congenital stationary night blindness type 2, Strom et al. (1998) identified 9 different mutations in the CACNA1F gene in 10 families, including 3 nonsense and 1 frameshift mutation (see, e.g., 300110.0001-300110.0002). Similarly, by mutation analysis of the CACNA1F gene in 20 families with incomplete CSNB, Bech-Hansen et al. (1998) found 6 different mutations, all of which predicted premature protein truncation (see, e.g., 300110.0003-300110.0004). </p><p>In 7 Japanese patients from 5 unrelated families with incomplete CSNB, Nakamura et al. (2001) identified 5 different mutations in the CACNA1F gene. Clinically, each patient had essentially normal fundi, mildly reduced corrected visual acuity, and slight myopia or hyperopia with astigmatism. Electrophysiologically, the mixed rod-cone ERG showed a negative configuration with recordable oscillatory potentials. The rod ERG was recordable but subnormal, and the cone and 30-Hz flicker ERGs were markedly depressed. Nakamura et al. (2001) concluded that in most Japanese patients with incomplete CSNB, the phenotype is caused by mutation in the CACNA1F gene. </p>
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<p>The key symptoms of CSNB2 are impaired night vision and decreased visual acuity. The electrophysiologic hallmark is the Schubert and Bornschein type electroretinogram, in which the amplitude of the scotopic b-wave is smaller than that of the normal-sized a-wave. This finding suggests that the pathologic correlate of the disease is localized most likely at the photoreceptor-to-bipolar synapse. Baumann et al. (2004) found that the CACNA1F protein constitutes the major molecular correlate of the retinal L-type calcium current. Its intrinsic biophysical properties, in particular its unique inactivation properties, enable it to provide a sustained calcium current over the voltage range required for tonic glutamate release at the photoreceptor synapse. </p>
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<strong>Animal Model</strong>
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<p>Mansergh et al. (2005) generated a mouse with a loss-of-function mutation in exon 7 of the mouse Cacna1f gene. Electroretinography of the mutant mouse revealed a scotopic a-wave of marginally reduced amplitude compared with the wildtype mouse and absence of the postreceptoral b-wave and oscillatory potentials. Cone ERG responses together with visual evoked potentials and multi-unit activity in the superior colliculus were also absent. Calcium imaging of retinal slices depolarized with KCl showed 90% less peak signal in the photoreceptor synapses of the Cacna1f mutant than in wildtype mice. The absence of postreceptoral ERG responses and the diminished photoreceptor calcium signals were consistent with a loss of Ca(2+) channel function in photoreceptors. Immunocytochemistry showed no detectable Cav1.4 protein in the outer plexiform layer of Cacna1f-mutant mice, profound loss of photoreceptor synapses, and abnormal dendritic sprouting of second-order neurons in the photoreceptor layer. Mansergh et al. (2005) concluded that the Cav1.4 calcium channel is vital for the functional assembly and/or maintenance and synaptic functions of photoreceptor ribbon synapses. </p>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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Baumann, L., Gerstner, A., Zong, X., Biel, M., Wahl-Schott, C.
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<strong>Functional characterization of the L-type Ca(2+) channel Cav1.4-alpha-1 from the mouse retina.</strong>
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Invest. Ophthal. Vis. Sci. 45: 708-713, 2004.
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[PubMed: 14744918]
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[Full Text: https://doi.org/10.1167/iovs.03-0937]
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Bech-Hansen, N. T., Naylor, M. J., Maybaum, T. A., Pearce, W. G., Koop, B., Fishman, G. A., Mets, M., Musarella, M. A., Boycott, K. M.
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<strong>Loss-of-function mutations in a calcium-channel alpha-1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness.</strong>
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Nature Genet. 19: 264-267, 1998.
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[PubMed: 9662400]
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[Full Text: https://doi.org/10.1038/947]
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Bergen, A. A. B., ten Brink, J. B., Riemslag, F., Schuurman, E. J. M., Meire, F., Tijmes, N., de Jong, P. T. V. M.
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<strong>Conclusive evidence for a distinct congenital stationary night blindness locus in Xp21.1.</strong>
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J. Med. Genet. 33: 869-872, 1996.
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[PubMed: 8933343]
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[Full Text: https://doi.org/10.1136/jmg.33.10.869]
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Bergen, A. A. B., ten Brink, J. B., Riemslag, F., Schuurman, E. J. M., Tijmes, N.
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<strong>Localization of a novel X-linked congenital stationary night blindness locus: close linkage to the RP3 type retinitis pigmentosa gene region.</strong>
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Hum. Molec. Genet. 4: 931-935, 1995.
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[PubMed: 7633454]
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[Full Text: https://doi.org/10.1093/hmg/4.5.931]
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Boycott, K. M., Pearce, W. G., Musarella, M. A., Weleber, R. G., Maybaum, T. A., Birch, D. G., Miyake, Y., Young, R. S. L., Bech-Hansen, N. T.
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<strong>Evidence for genetic heterogeneity in X-linked congenital stationary night blindness.</strong>
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Am. J. Hum. Genet. 62: 865-875, 1998.
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[PubMed: 9529339]
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[Full Text: https://doi.org/10.1086/301781]
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Hardcastle, A. J., David-Gray, Z. K., Jay, M., Bird, A. C., Bhattacharya, S. S.
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<strong>Localization of CSNBX (CSNB4) between the retinitis pigmentosa loci RP2 and RP3 on proximal Xp.</strong>
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Invest. Ophthal. Vis. Sci. 38: 2750-2755, 1997.
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[PubMed: 9418727]
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Mansergh, F., Orton, N. C., Vessey, J. P., Lalonde, M. R., Stell, W. K., Tremblay, F., Barnes, S., Rancourt, D. E., Bech-Hansen, N. T.
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<strong>Mutation of the calcium channel gene Cacna1f disrupts calcium signaling, synaptic transmission and cellular organization in mouse retina.</strong>
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Hum. Molec. Genet. 14: 3035-3046, 2005.
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[PubMed: 16155113]
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[Full Text: https://doi.org/10.1093/hmg/ddi336]
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Nakamura, M., Ito, S., Terasaki, H., Miyake, Y.
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<strong>Novel CACNA1F mutations in Japanese patients with incomplete congenital stationary night blindness.</strong>
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Invest. Ophthal. Vis. Sci. 42: 1610-1616, 2001.
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[PubMed: 11381068]
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Strom, T. M., Nyakatura, G., Apfelstedt-Sylla, E., Hellebrand, H., Lorenz, B., Weber, B. H. F., Wutz, K., Gutwillinger, N., Ruther, K., Drescher, B., Sauer, C., Zrenner, E., Meitinger, T., Rosenthal, A., Meindl, A.
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<strong>An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness.</strong>
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Nature Genet. 19: 260-263, 1998.
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[PubMed: 9662399]
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[Full Text: https://doi.org/10.1038/940]
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Marla J. F. O'Neill - updated : 3/24/2011<br>George E. Tiller - updated : 6/25/2009<br>Anne M. Stumpf - updated : 7/28/2005<br>Jane Kelly - updated : 2/23/2004<br>Victor A. McKusick - updated : 4/12/1999<br>Victor A. McKusick - updated : 6/23/1998<br>Victor A. McKusick - updated : 5/13/1998
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