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<a href="/entry/603197?search=212840%20215470%20245800%20275400%20603197%20612020&highlight=212840%2C215470%2C245800%2C275400%2C603197%2C612020">
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<span class="text-danger"><strong>*</strong></span>
603197.
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PATATIN-LIKE PHOSPHOLIPASE DOMAIN-CONTAINING PROTEIN 6; PNPLA6
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Cytogenetic location:
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<a href="/geneMap/19/207?start=-3&limit=10&highlight=207">
19p13.2</a></span>,
Genomic coordinates <span class="small">(GRCh38)</span>: <span class="mim-font"><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr19:7534164-7561767&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">19:7,534,164-7,561,767</a></span>
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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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<a href="/geneMap/19/207?start=-3&limit=10&highlight=207">
19p13.2
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<span class="mim-font">
?Laurence-Moon syndrome
</span>
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<span class="mim-font">
<a href="/entry/245800"> 245800 </a>
</span>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
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<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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Boucher-Neuhauser syndrome
</span>
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<span class="mim-font">
<a href="/entry/215470"> 215470 </a>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
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<span class="mim-font">
Oliver-McFarlane syndrome
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<td>
<span class="mim-font">
<a href="/entry/275400"> 275400 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
Spastic paraplegia 39, autosomal recessive
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612020"> 612020 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
</tr>
</tbody>
</table>
<div class="text-right small">
<a href="#mimGeneMapFold_1" data-toggle="collapse">▲ Close</a>
</div>
</div>
<div id="mimLinksFold_1" class="well well-sm collapse mimSingletonToggleFold">
<table class="table table-condensed small mim-table-padding ">
<caption>
Links
</caption>
<tbody>
<tr>
<td>
<dl>
<dt>Testing</dt>
<dd><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=603197[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></dd>
</dl>
</td>
<td>
<dl>
<dt>Genome</dt>
<dd><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000032444;t=ENST00000600737" class="mim-tip-hint" title="Genome databases for vertebrates and other eukaryotic species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></dd>
<dd><a href="https://www.ncbi.nlm.nih.gov/genome/gdv/browser/gene/?id=10908" class="mim-tip-hint" title="Detailed views of the complete genomes of selected organisms from vertebrates to protozoa." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Genome Viewer', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Genome Viewer</a></dd>
<dd><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=603197" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></dd>
</dl>
</td>
<td>
<dl>
<dt>DNA</dt>
<dd><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000032444;t=ENST00000600737" class="mim-tip-hint" title="Transcript-based views for coding and noncoding DNA." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl (MANE Select)</a></dd>
<dd><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_001166111,NM_001166112,NM_001166113,NM_001166114,NM_006702" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq</a></dd>
<dd><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_001166114" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq (MANE)', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq (MANE Select)</a></dd>
<dd><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=603197" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></dd>
</dl>
</td>
<td>
<dl>
<dt>Protein</dt>
<dd><a href="https://hprd.org/summary?hprd_id=04432&isoform_id=04432_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></dd>
<dd><a href="https://www.proteinatlas.org/search/PNPLA6" class="mim-tip-hint" title="The Human Protein Atlas contains information for a large majority of all human protein-coding genes regarding the expression and localization of the corresponding proteins based on both RNA and protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HumanProteinAtlas', 'domain': 'proteinatlas.org'})">Human Protein Atlas</a></dd>
<dd><a href="https://www.ncbi.nlm.nih.gov/protein/2982501,4914596,23398599,29791689,30353798,116256487,119589435,119589436,194375740,194376072,221044082,260656037,260656039,260656041,260656043,675399367,675399369,675399371,675399373,675399375,675399377,675399379,1476413345" class="mim-tip-hint" title="NCBI protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Protein', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Protein</a></dd>
<dd><a href="https://www.uniprot.org/uniprotkb/Q8IY17" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></dd>
</dl>
</td>
<td>
<dl>
<dt>Gene Info</dt>
<dd><a href="http://biogps.org/#goto=genereport&id=10908" class="mim-tip-hint" title="The Gene Portal Hub; customizable portal of gene and protein function information." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'BioGPS', 'domain': 'biogps.org'})">BioGPS</a></dd>
<dd><a href="https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000032444;t=ENST00000600737" class="mim-tip-hint" title="Orthologs, paralogs, regulatory regions, and splice variants." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></dd>
<dd><a href="https://www.genecards.org/cgi-bin/carddisp.pl?gene=PNPLA6" class="mim-tip-hint" title="The Human Genome Compendium; web-based cards integrating automatically mined information on human genes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneCards', 'domain': 'genecards.org'})">GeneCards</a></dd>
<dd><a href="http://amigo.geneontology.org/amigo/search/annotation?q=PNPLA6" class="mim-tip-hint" title="Terms, defined using controlled vocabulary, representing gene product properties (biologic process, cellular component, molecular function) across species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneOntology', 'domain': 'amigo.geneontology.org'})">Gene Ontology</a></dd>
<dd><a href="https://www.genome.jp/dbget-bin/www_bget?hsa+10908" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></dd>
<dd><a href="http://v1.marrvel.org/search/gene/PNPLA6" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></dd>
<dd><a href="https://monarchinitiative.org/NCBIGene:10908" class="mim-tip-hint" title="Monarch Initiative." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Monarch', 'domain': 'monarchinitiative.org'})">Monarch</a></dd>
<dd><a href="https://www.ncbi.nlm.nih.gov/gene/10908" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></dd>
<dd><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr19&hgg_gene=ENST00000601870.1&hgg_start=7534164&hgg_end=7561767&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></dd>
</dl>
</td>
<td>
<dl>
<dt>Clinical Resources</dt>
<dd><a href="https://search.clinicalgenome.org/kb/genes/HGNC:16268" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></dd>
<dd><a href="https://medlineplus.gov/genetics/gene/pnpla6" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></dd>
<dd><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=603197[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></dd>
</dl>
</td>
<td>
<dl>
<dt>Variation</dt>
<dd><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=603197[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></dd>
<dd><a href="https://www.deciphergenomics.org/gene/PNPLA6/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></dd>
<dd><a href="https://gnomad.broadinstitute.org/gene/ENSG00000032444" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></dd>
<dd><a href="https://www.ebi.ac.uk/gwas/search?query=PNPLA6" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></dd>
<dd><a href="https://www.gwascentral.org/search?q=PNPLA6" class="mim-tip-hint" title="GWAS Central; summary level genotype-to-phenotype information from genetic association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Central', 'domain': 'gwascentral.org'})">GWAS Central </a></dd>
<dd><a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=PNPLA6" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></dd>
<dd><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=PNPLA6&upstreamSize=0&downstreamSize=0&x=0&y=0" class="mim-tip-hint" title="National Heart, Lung, and Blood Institute Exome Variant Server." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NHLBI EVS', 'domain': 'evs.gs.washington.edu'})">NHLBI EVS</a></dd>
<dd><a href="https://www.pharmgkb.org/gene/PA145148268" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</a></dd>
</dl>
</td>
<td>
<dl>
<dt>Animal Models</dt>
<dd><a href="https://www.alliancegenome.org/gene/HGNC:16268" 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></dd>
<dd><a href="https://flybase.org/reports/FBgn0003656.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></dd>
<dd><a href="https://www.mousephenotype.org/data/genes/MGI:1354723" class="mim-tip-hint" title="International Mouse Phenotyping Consortium." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'IMPC', 'domain': 'knockoutmouse.org'})">IMPC</a></dd>
<dd><a href="http://v1.marrvel.org/search/gene/PNPLA6#HomologGenesPanel" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></dd>
<dd><a href="http://www.informatics.jax.org/marker/MGI:1354723" class="mim-tip-hint" title="Mouse Genome Informatics; international database resource for the laboratory mouse, including integrated genetic, genomic, and biological data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Gene', 'domain': 'informatics.jax.org'})">MGI Mouse Gene</a></dd>
<dd><a href="https://www.mmrrc.org/catalog/StrainCatalogSearchForm.php?search_query=MGI:1354723" class="mim-tip-hint" title="Mutant Mouse Resource & Research Centers." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MMRRC', 'domain': 'mmrrc.org'})">MMRRC</a></dd>
<dd><a href="https://www.ncbi.nlm.nih.gov/gene/10908/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></dd>
<dd><a href="https://www.orthodb.org/?ncbi=10908" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></dd>
Wormbase Gene</dd>
<dd style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00010915;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00010915 </a></dd><dd style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00022718;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00022718 </a></dd>
<dd><a href="https://zfin.org/ZDB-GENE-050107-4" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></dd>
</dl>
</td>
<td>
<dl>
<dt>Cellular Pathways</dt>
<dd><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:10908" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></dd>
<dd><a href="https://reactome.org/content/query?q=PNPLA6&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></dd>
</dl>
</td>
</tr>
</tbody>
</table>
<div class="text-right small">
<a href="#mimLinksFold_1" data-toggle="collapse">▲ Close</a>
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</div>
<div id="mimDisorderCodesFold_1" class="well well-sm collapse mimSingletonToggleFold">
<table class="table table-condensed small mim-table-padding">
<caption>
ICD+
</caption>
<tbody>
<tr>
<td>
<dl>
<dd>SNOMEDCT: 232059000, 5619004, 715984007, 719103009, 719944006</dd>
<dd>ICD10CM: Q87.84</dd>
</dl>
</td>
</tr>
</tbody>
</table>
<div class="text-right small">
<a href="#mimDisorderCodesFold_1" data-toggle="collapse">▲ Close</a>
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<div class="row">
<p />
</div>
<div class="row">
<div class="col-lg-1 col-md-1 col-sm-1 col-xs-1" style="width: 2em;">
2:
</div>
<div class="col-lg-11 col-md-11 col-sm-11 col-xs-11">
<span class="mim-result-font">
<a href="/entry/275400?search=212840%20215470%20245800%20275400%20603197%20612020&highlight=212840%2C215470%2C245800%2C275400%2C603197%2C612020">
<span class="mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
275400.
</span>
OLIVER-MCFARLANE SYNDROME; OMCS
</a>
</span>
<br />
<span class="text-muted">
Cytogenetic location:
<span class="mim-font">
<a href="/geneMap/19/207?start=-3&limit=10&highlight=207">
19p13.2</a></span>
</span>
<br />
<span class="text-success">Matching terms: <span class="mim-font">275400</span></span>
<br />
<a href="#mimPhenotypeMapFold_2" id="mimPhenotypeMapToggle_2" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'GeneMap'})"><span class="small"><span id="mimPhenotypeMapToggleTriangle_2" class="mimPingletonToggleTriangle" style="color: DarkOrchid">►</span> Phenotype-Gene Relationships</span></a>
<a href="#mimDisorderCodesFold_2" id="mimDisorderCodesToggle_2" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'ICD+'})"><span class="small"><span id="mimDisorderCodesToggleTriangle_2" class="mimSingletonToggleTriangle" style="color: DarkRed">►</span> ICD+</span></a>
<a href="#mimLinksFold_2" id="mimLinksToggle_2" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'Links'})"><span class="small"><span id="mimLinksToggleTriangle_2" class="mimSingletonToggleTriangle" style="color: #337CB5">►</span> Links</span></a>
<div id="mimPhenotypeMapFold_2" class="well well-sm collapse mimSingletonToggleFold">
<table class="table table-bordered table-condensed small mim-table-padding">
<caption>
Phenotype-Gene Relationships
</caption>
<thead>
<tr>
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/207?start=-3&limit=10&highlight=207">
19p13.2
</a>
</span>
</td>
<td>
<span class="mim-font">
Oliver-McFarlane syndrome
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/275400"> 275400 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
PNPLA6
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603197"> 603197 </a>
</span>
</td>
</tr>
</tbody>
</table>
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<a href="#mimPhenotypeMapFold_2" data-toggle="collapse">▲ Close</a>
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</div>
<div id="mimLinksFold_2" class="well well-sm collapse mimSingletonToggleFold">
<table class="table table-condensed small mim-table-padding ">
<caption>
Links
</caption>
<tbody>
<tr>
<td>
<dl>
<dt>Testing</dt>
<dd><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=275400[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></dd>
<dd><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=2981&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></dd>
</dl>
</td>
<td>
<dl>
<dt>Clinical Resources</dt>
<dd><a href="https://clinicaltrials.gov/search?cond=OLIVER-MCFARLANE SYNDROME" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></dd>
<dd><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=2981&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></dd>
<dd><a href="https://www.ncbi.nlm.nih.gov/books/NBK247161/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></dd>
<dd><a href="https://www.diseaseinfosearch.org/x/7200" 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></dd>
<dd><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=275400[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></dd>
<dd><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3363" 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></dd>
<dd><a href="https://www.possumcore.com/nuxeo/nxdoc/default/8dae454e-e796-4c65-a031-8908e312eec1/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></dd>
</dl>
</td>
<td>
<dl>
<dt>Animal Models</dt>
<dd><a href="https://www.alliancegenome.org/disease/DOID:0111271" 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></dd>
<dd><a href="http://www.informatics.jax.org/disease/275400" 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></dd>
<dd><a href="https://wormbase.org/resources/disease/DOID:0111271" 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></dd>
</dl>
</td>
</tr>
</tbody>
</table>
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<a href="#mimLinksFold_2" data-toggle="collapse">▲ Close</a>
</div>
</div>
<div id="mimDisorderCodesFold_2" class="well well-sm collapse mimSingletonToggleFold">
<table class="table table-condensed small mim-table-padding">
<caption>
ICD+
</caption>
<tbody>
<tr>
<td>
<dl>
<dd>SNOMEDCT: 719944006</dd>
<dd>ORPHA: 3363</dd>
<dd>DO: 0111271</dd>
</dl>
</td>
</tr>
</tbody>
</table>
<div class="text-right small">
<a href="#mimDisorderCodesFold_2" data-toggle="collapse">▲ Close</a>
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</div>
</div>
<div class="row">
<p />
</div>
<div class="row">
<div class="col-lg-1 col-md-1 col-sm-1 col-xs-1" style="width: 2em;">
3:
</div>
<div class="col-lg-11 col-md-11 col-sm-11 col-xs-11">
<span class="mim-result-font">
<a href="/entry/612020?search=212840%20215470%20245800%20275400%20603197%20612020&highlight=212840%2C215470%2C245800%2C275400%2C603197%2C612020">
<span class="mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
612020.
</span>
SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE; SPG39
</a>
</span>
<br />
<span class="text-muted">
Cytogenetic location:
<span class="mim-font">
<a href="/geneMap/19/207?start=-3&limit=10&highlight=207">
19p13.2</a></span>
</span>
<br />
<span class="text-success">Matching terms: <span class="mim-font">612020</span></span>
<br />
<a href="#mimPhenotypeMapFold_3" id="mimPhenotypeMapToggle_3" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'GeneMap'})"><span class="small"><span id="mimPhenotypeMapToggleTriangle_3" class="mimPingletonToggleTriangle" style="color: DarkOrchid">►</span> Phenotype-Gene Relationships</span></a>
<a href="#mimPhenotypicSeriesFold_3" id="mimPhenotypicSeriesToggle_3" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'PhenotypicSeries'})"><span class="small"><span id="mimPhenotypicSeriesToggleTriangle_3" class="mimSingletonToggleTriangle" style="color: #47B7D9">►</span> Phenotypic Series</span></a>
<a href="#mimDisorderCodesFold_3" id="mimDisorderCodesToggle_3" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'ICD+'})"><span class="small"><span id="mimDisorderCodesToggleTriangle_3" class="mimSingletonToggleTriangle" style="color: DarkRed">►</span> ICD+</span></a>
<a href="#mimLinksFold_3" id="mimLinksToggle_3" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'Links'})"><span class="small"><span id="mimLinksToggleTriangle_3" class="mimSingletonToggleTriangle" style="color: #337CB5">►</span> Links</span></a>
<div id="mimPhenotypeMapFold_3" class="well well-sm collapse mimSingletonToggleFold">
<table class="table table-bordered table-condensed small mim-table-padding">
<caption>
Phenotype-Gene Relationships
</caption>
<thead>
<tr>
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/207?start=-3&limit=10&highlight=207">
19p13.2
</a>
</span>
</td>
<td>
<span class="mim-font">
Spastic paraplegia 39, autosomal recessive
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612020"> 612020 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
PNPLA6
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603197"> 603197 </a>
</span>
</td>
</tr>
</tbody>
</table>
<div class="text-right small">
<a href="#mimPhenotypeMapFold_3" data-toggle="collapse">▲ Close</a>
</div>
</div>
<div id="mimPhenotypicSeriesFold_3" class="well well-sm collapse mimSingletonToggleFold">
<div class="small">
<div class="row">
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
<h5>
Spastic paraplegia
- <a href="/phenotypicSeries/PS303350">PS303350</a>
- 86 Entries
</h5>
</div>
</div>
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
<table class="table table-bordered table-condensed table-hover mim-table-padding">
<thead>
<tr>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Location</strong>
</th>
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
<strong>Phenotype</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Inheritance</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />mapping key</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />MIM number</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus<br />MIM number</strong>
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/208?start=-3&limit=10&highlight=208"> 1p36.13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617225"> Spastic paraplegia 78, autosomal recessive </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617225"> 617225 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610513"> ATP13A2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610513"> 610513 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/553?start=-3&limit=10&highlight=553"> 1p34.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619027"> Spastic paraplegia 83, autosomal recessive </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619027"> 619027 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618994"> HPDL </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618994"> 618994 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/709?start=-3&limit=10&highlight=709"> 1p31.1-p21.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609727"> Spastic paraplegia 29, autosomal dominant </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609727"> 609727 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609727"> SPG29 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609727"> 609727 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/882?start=-3&limit=10&highlight=882"> 1p13.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615686"> ?Spastic paraplegia 63, autosomal recessive </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615686"> 615686 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/102771"> AMPD2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/102771"> 102771 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/935?start=-3&limit=10&highlight=935"> 1p13.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614066"> Spastic paraplegia 47, autosomal recessive </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614066"> 614066 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607245"> AP4B1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607245"> 607245 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1617?start=-3&limit=10&highlight=1617"> 1q32.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/270750"> Spastic paraplegia 23, autosomal recessive </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/270750"> 270750 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612666"> DSTYK </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612666"> 612666 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1773?start=-3&limit=10&highlight=1773"> 1q42.13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613206"> ?Spastic paraplegia 44, autosomal recessive </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613206"> 613206 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608803"> GJC2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608803"> 608803 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1774?start=-3&limit=10&highlight=1774"> 1q42.13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616451"> ?Spastic paraplegia 74, autosomal recessive </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616451"> 616451 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615316"> IBA57 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615316"> 615316 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/106?start=-3&limit=10&highlight=106"> 2p23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618768"> Spastic paraplegia 81, autosomal recessive </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618768"> 618768 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607915"> SELENOI </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607915"> 607915 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/170?start=-3&limit=10&highlight=170"> 2p22.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/182601"> Spastic paraplegia 4, autosomal dominant </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/182601"> 182601 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604277"> SPAST </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604277"> 604277 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/325?start=-3&limit=10&highlight=325"> 2p13.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620938"> Spastic paraplegia 93, autosomal recessive </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620938"> 620938 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608100"> NFU1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608100"> 608100 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/441?start=-3&limit=10&highlight=441"> 2p11.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610250"> Spastic paraplegia 31, autosomal dominant </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610250"> 610250 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609139"> REEP1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609139"> 609139 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/891?start=-3&limit=10&highlight=891"> 2q33.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605280"> Spastic paraplegia 13, autosomal dominant </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605280"> 605280 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/118190"> HSPD1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/118190"> 118190 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/1177?start=-3&limit=10&highlight=1177"> 2q37.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610357"> Spastic paraplegia 30, autosomal dominant </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610357"> 610357 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601255"> KIF1A </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601255"> 601255 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/1177?start=-3&limit=10&highlight=1177"> 2q37.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620607"> Spastic paraplegia 30, autosomal recessive </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620607"> 620607 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601255"> KIF1A </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601255"> 601255 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/505?start=-3&limit=10&highlight=505"> 3q12.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615658"> ?Spastic paraplegia 57, autosomal recessive </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615658"> 615658 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602498"> TFG </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602498"> 602498 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/803?start=-3&limit=10&highlight=803"> 3q25.31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612539"> Spastic paraplegia 42, autosomal dominant </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612539"> 612539 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603690"> SLC33A1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603690"> 603690 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/894?start=-3&limit=10&highlight=894"> 3q27-q28 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605229"> Spastic paraplegia 14, autosomal recessive </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605229"> 605229 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605229"> SPG14 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605229"> 605229 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/4/8?start=-3&limit=10&highlight=8"> 4p16-p15 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612335"> Spastic paraplegia 38, autosomal dominant </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612335"> 612335 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612335"> SPG38 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612335"> 612335 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/4/174?start=-3&limit=10&highlight=174"> 4p13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615491"> Spastic paraplegia 79B, autosomal recessive </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615491"> 615491 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/191342"> UCHL1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/191342"> 191342 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/4/174?start=-3&limit=10&highlight=174"> 4p13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620221"> Spastic paraplegia 79A, autosomal dominant </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620221"> 620221 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/191342"> UCHL1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/191342"> 191342 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/4/471?start=-3&limit=10&highlight=471"> 4q25 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615030"> Spastic paraplegia 56, autosomal recessive </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615030"> 615030 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610670"> CYP2U1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610670"> 610670 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/509?start=-3&limit=10&highlight=509"> 5q31.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620606"> ?Spastic paraplegia 72B, autosomal recessive </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620606"> 620606 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609347"> REEP2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609347"> 609347 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/509?start=-3&limit=10&highlight=509"> 5q31.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615625"> Spastic paraplegia 72A, autosomal dominant </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615625"> 615625 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609347"> REEP2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609347"> 609347 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/33?start=-3&limit=10&highlight=33"> 6p25.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617046"> Spastic paraplegia 77, autosomal recessive </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617046"> 617046 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611592"> FARS2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611592"> 611592 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/323?start=-3&limit=10&highlight=323"> 6p21.33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619735"> Spastic paraplegia 86, autosomal recessive </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619735"> 619735 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/142620"> ABHD16A </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/142620"> 142620 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/851?start=-3&limit=10&highlight=851"> 6q23-q24.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608220"> Spastic paraplegia 25, autosomal recessive </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608220"> 608220 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608220"> SPG25 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608220"> 608220 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/37?start=-3&limit=10&highlight=37"> 7p22.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613647"> Spastic paraplegia 48, autosomal recessive </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613647"> 613647 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613653"> AP5Z1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613653"> 613653 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/484?start=-3&limit=10&highlight=484"> 7q22.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612936"> Spastic paraplegia 50, autosomal recessive </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612936"> 612936 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602296"> AP4M1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602296"> 602296 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/76?start=-3&limit=10&highlight=76"> 8p22 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614898"> Spastic paraplegia 53, autosomal recessive </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614898"> 614898 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609927"> VPS37A </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609927"> 609927 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/154?start=-3&limit=10&highlight=154"> 8p21.1-q13.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611945"> Spastic paraplegia 37, autosomal dominant </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611945"> 611945 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611945"> SPG37 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611945"> 611945 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/196?start=-3&limit=10&highlight=196"> 8p11.23 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611225"> Spastic paraplegia 18B, autosomal recessive </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611225"> 611225 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611605"> ERLIN2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611605"> 611605 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/196?start=-3&limit=10&highlight=196"> 8p11.23 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620512"> Spastic paraplegia 18A, autosomal dominant </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620512"> 620512 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611605"> ERLIN2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611605"> 611605 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/207?start=-3&limit=10&highlight=207"> 8p11.23 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615033"> Spastic paraplegia 54, autosomal recessive </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615033"> 615033 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615003"> DDHD2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615003"> 615003 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/240?start=-3&limit=10&highlight=240"> 8p11.21 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619686"> Spastic paraplegia 85, autosomal recessive </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619686"> 619686 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614649"> RNF170 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614649"> 614649 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/303?start=-3&limit=10&highlight=303"> 8q12.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/270800"> Spastic paraplegia 5A, autosomal recessive </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/270800"> 270800 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603711"> CYP7B1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603711"> 603711 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/538?start=-3&limit=10&highlight=538"> 8q24.13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603563"> Spastic paraplegia 8, autosomal dominant </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603563"> 603563 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610657"> WASHC5 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610657"> 610657 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/9/175?start=-3&limit=10&highlight=175"> 9p13.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614409"> Spastic paraplegia 46, autosomal recessive </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614409"> 614409 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609471"> GBA2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609471"> 609471 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/9/210?start=-3&limit=10&highlight=210"> 9q </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607152"> Spastic paraplegia 19, autosomal dominant </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607152"> 607152 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607152"> SPG19 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607152"> 607152 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/9/548?start=-3&limit=10&highlight=548"> 9q34.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620538"> Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620538"> 620538 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/182810"> SPTAN1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/182810"> 182810 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/250?start=-3&limit=10&highlight=250"> 10q22.1-q24.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609041"> Spastic paraplegia 27, autosomal recessive </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609041"> 609041 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609041"> SPG27 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609041"> 609041 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/427?start=-3&limit=10&highlight=427"> 10q24.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601162"> Spastic paraplegia 9A, autosomal dominant </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601162"> 601162 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/138250"> ALDH18A1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/138250"> 138250 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/427?start=-3&limit=10&highlight=427"> 10q24.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616586"> Spastic paraplegia 9B, autosomal recessive </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616586"> 616586 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/138250"> ALDH18A1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/138250"> 138250 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/429?start=-3&limit=10&highlight=429"> 10q24.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615683"> Spastic paraplegia 64, autosomal recessive </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615683"> 615683 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601752"> ENTPD1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601752"> 601752 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/473?start=-3&limit=10&highlight=473"> 10q24.31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615681"> Spastic paraplegia 62, autosomal recessive </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615681"> 615681 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611604"> ERLIN1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611604"> 611604 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/530?start=-3&limit=10&highlight=530"> 10q24.32-q24.33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613162"> Spastic paraplegia 45, autosomal recessive </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613162"> 613162 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600417"> NT5C2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600417"> 600417 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/255?start=-3&limit=10&highlight=255"> 11p14.1-p11.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613364"> ?Spastic paraplegia 41, autosomal dominant </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613364"> 613364 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613364"> SPG41 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613364"> 613364 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/489?start=-3&limit=10&highlight=489"> 11q12.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/270685"> Silver spastic paraplegia syndrome </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/270685"> 270685 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606158"> BSCL2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606158"> 606158 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/584?start=-3&limit=10&highlight=584"> 11q13.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616907"> Spastic paraplegia 76, autosomal recessive </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616907"> 616907 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/114220"> CAPN1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/114220"> 114220 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/542?start=-3&limit=10&highlight=542"> 12q13.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620323"> Spastic paraplegia 70, autosomal recessive </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620323"> 620323 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/156560"> MARS1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/156560"> 156560 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/547?start=-3&limit=10&highlight=547"> 12q13.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604187"> Spastic paraplegia 10, autosomal dominant </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604187"> 604187 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602821"> KIF5A </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602821"> 602821 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/551?start=-3&limit=10&highlight=551"> 12q13.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609195"> Spastic paraplegia 26, autosomal recessive </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609195"> 609195 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601873"> B4GALNT1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601873"> 601873 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/702?start=-3&limit=10&highlight=702"> 12q23-q24 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613096"> Spastic paraplegia 36, autosomal dominant </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613096"> 613096 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613096"> SPG36 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613096"> 613096 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/768?start=-3&limit=10&highlight=768"> 12q23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620911"> Spastic paraplegia 92, autosomal recessive </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620911"> 620911 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620875"> FICD </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620875"> 620875 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/922?start=-3&limit=10&highlight=922"> 12q24.31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615035"> Spastic paraplegia 55, autosomal recessive </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615035"> 615035 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613541"> MTRFR </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613541"> 613541 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/13/97?start=-3&limit=10&highlight=97"> 13q13.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/275900"> Troyer syndrome </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/275900"> 275900 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607111"> SPART </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607111"> 607111 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/13/118?start=-3&limit=10&highlight=118"> 13q14 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607584"> Spastic paraplegia 24, autosomal recessive </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607584"> 607584 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607584"> SPG24 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607584"> 607584 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/13/175?start=-3&limit=10&highlight=175"> 13q14.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620106"> Spastic paraplegia 88, autosomal dominant </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620106"> 620106 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601892"> KPNA3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601892"> 601892 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/111?start=-3&limit=10&highlight=111"> 14q12-q21 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611252"> Spastic paraplegia 32, autosomal recessive </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611252"> 611252 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611252"> SPG32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611252"> 611252 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/151?start=-3&limit=10&highlight=151"> 14q12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614067"> Spastic paraplegia 52, autosomal recessive </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614067"> 614067 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607243"> AP4S1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607243"> 607243 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/161?start=-3&limit=10&highlight=161"> 14q13.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620416"> Spastic paraplegia 90A, autosomal dominant </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620416"> 620416 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613540"> SPTSSA </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613540"> 613540 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/161?start=-3&limit=10&highlight=161"> 14q13.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620417"> ?Spastic paraplegia 90B, autosomal recessive </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620417"> 620417 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613540"> SPTSSA </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613540"> 613540 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/225?start=-3&limit=10&highlight=225"> 14q22.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/182600"> Spastic paraplegia 3A, autosomal dominant </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/182600"> 182600 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606439"> ATL1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606439"> 606439 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/244?start=-3&limit=10&highlight=244"> 14q22.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609340"> Spastic paraplegia 28, autosomal recessive </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609340"> 609340 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614603"> DDHD1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614603"> 614603 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/333?start=-3&limit=10&highlight=333"> 14q24.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/270700"> Spastic paraplegia 15, autosomal recessive </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/270700"> 270700 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612012"> ZFYVE26 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612012"> 612012 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/412?start=-3&limit=10&highlight=412"> 14q24.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619966"> Spastic paraplegia 87, autosomal recessive </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619966"> 619966 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619953"> TMEM63C </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619953"> 619953 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/15/15?start=-3&limit=10&highlight=15"> 15q11.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600363"> Spastic paraplegia 6, autosomal dominant </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600363"> 600363 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608145"> NIPA1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608145"> 608145 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/15/168?start=-3&limit=10&highlight=168"> 15q21.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604360"> Spastic paraplegia 11, autosomal recessive </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604360"> 604360 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610844"> SPG11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610844"> 610844 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/15/210?start=-3&limit=10&highlight=210"> 15q21.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613744"> Spastic paraplegia 51, autosomal recessive </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613744"> 613744 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607244"> AP4E1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607244"> 607244 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/15/289?start=-3&limit=10&highlight=289"> 15q22.31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/248900"> Mast syndrome </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/248900"> 248900 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608181"> ACP33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608181"> 608181 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/232?start=-3&limit=10&highlight=232"> 16p12.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615685"> Spastic paraplegia 61, autosomal recessive </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615685"> 615685 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607669"> ARL6IP1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607669"> 607669 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/451?start=-3&limit=10&highlight=451"> 16q13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620379"> Spastic paraplegia 89, autosomal recessive </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620379"> 620379 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603243"> AMFR </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603243"> 603243 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/640?start=-3&limit=10&highlight=640"> 16q23.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612319"> Spastic paraplegia 35, autosomal recessive </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612319"> 612319 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611026"> FA2H </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611026"> 611026 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/745?start=-3&limit=10&highlight=745"> 16q24.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607259"> Spastic paraplegia 7, autosomal recessive </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607259"> 607259 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602783"> PGN </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602783"> 602783 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/1047?start=-3&limit=10&highlight=1047"> 17q25.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618770"> Spastic paraplegia 82, autosomal recessive </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618770"> 618770 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602679"> PCYT2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602679"> 602679 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/207?start=-3&limit=10&highlight=207"> 19p13.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612020"> Spastic paraplegia 39, autosomal recessive </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612020"> 612020 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603197"> PNPLA6 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603197"> 603197 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/526?start=-3&limit=10&highlight=526"> 19q12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615043"> ?Spastic paraplegia 43, autosomal recessive </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615043"> 615043 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614297"> C19orf12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614297"> 614297 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/577?start=-3&limit=10&highlight=577"> 19q13.12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616680"> Spastic paraplegia 75, autosomal recessive </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616680"> 616680 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/159460"> MAG </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/159460"> 159460 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/824?start=-3&limit=10&highlight=824"> 19q13.32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604805"> Spastic paraplegia 12, autosomal dominant </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604805"> 604805 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603183"> RTN2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603183"> 603183 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/961?start=-3&limit=10&highlight=961"> 19q13.33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616282"> ?Spastic paraplegia 73, autosomal dominant </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616282"> 616282 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608846"> CPT1C </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608846"> 608846 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/22/66?start=-3&limit=10&highlight=66"> 22q11.21 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619621"> Spastic paraplegia 84, autosomal recessive </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619621"> 619621 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600286"> PI4KA </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600286"> 600286 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/364?start=-3&limit=10&highlight=364"> Xq11.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300266"> Spastic paraplegia 16, X-linked, complicated </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300266"> 300266 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300266"> SPG16 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300266"> 300266 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/532?start=-3&limit=10&highlight=532"> Xq22.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/312920"> Spastic paraplegia 2, X-linked </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/312920"> 312920 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300401"> PLP1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300401"> 300401 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/598?start=-3&limit=10&highlight=598"> Xq24-q25 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300750"> Spastic paraplegia 34, X-linked </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300750"> 300750 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300750"> SPG34 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300750"> 300750 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/842?start=-3&limit=10&highlight=842"> Xq28 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/303350"> MASA syndrome </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/303350"> 303350 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/308840"> L1CAM </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/308840"> 308840 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
Not Mapped
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610244"> Spastic paraplegia 33, autosomal dominant </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610244"> 610244 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610244"> SPG33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610244"> 610244 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
<div class="text-right small">
<a href="#mimPhenotypicSeriesFold_3" data-toggle="collapse">▲ Close</a>
</div>
</div>
</div>
<div id="mimLinksFold_3" class="well well-sm collapse mimSingletonToggleFold">
<table class="table table-condensed small mim-table-padding ">
<caption>
Links
</caption>
<tbody>
<tr>
<td>
<dl>
<dt>Testing</dt>
<dd><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=612020[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></dd>
<dd><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=16907&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></dd>
</dl>
</td>
<td>
<dl>
<dt>Clinical Resources</dt>
<dd><a href="https://clinicaltrials.gov/search?cond=SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE" 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></dd>
<dd><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=16907&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></dd>
<dd><a href="https://www.ncbi.nlm.nih.gov/books/NBK247161/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></dd>
<dd><a href="https://www.diseaseinfosearch.org/x/6694" 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></dd>
<dd><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=612020[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></dd>
<dd><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=139480" 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></dd>
</dl>
</td>
<td>
<dl>
<dt>Animal Models</dt>
<dd><a href="https://www.alliancegenome.org/disease/DOID:0110790" 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></dd>
<dd><a href="http://www.informatics.jax.org/disease/612020" 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></dd>
<dd><a href="https://wormbase.org/resources/disease/DOID:0110790" 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></dd>
</dl>
</td>
</tr>
</tbody>
</table>
<div class="text-right small">
<a href="#mimLinksFold_3" data-toggle="collapse">▲ Close</a>
</div>
</div>
<div id="mimDisorderCodesFold_3" class="well well-sm collapse mimSingletonToggleFold">
<table class="table table-condensed small mim-table-padding">
<caption>
ICD+
</caption>
<tbody>
<tr>
<td>
<dl>
<dd>SNOMEDCT: 719103009</dd>
<dd>ORPHA: 139480</dd>
<dd>DO: 0110790</dd>
</dl>
</td>
</tr>
</tbody>
</table>
<div class="text-right small">
<a href="#mimDisorderCodesFold_3" data-toggle="collapse">▲ Close</a>
</div>
</div>
</div>
</div>
<div class="row">
<p />
</div>
<div class="row">
<div class="col-lg-1 col-md-1 col-sm-1 col-xs-1" style="width: 2em;">
4:
</div>
<div class="col-lg-11 col-md-11 col-sm-11 col-xs-11">
<span class="mim-result-font">
<a href="/entry/212840?search=212840%20215470%20245800%20275400%20603197%20612020&highlight=212840%2C215470%2C245800%2C275400%2C603197%2C612020">
<span class="mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
212840.
</span>
GORDON HOLMES SYNDROME; GDHS
</a>
</span>
<br />
<span class="text-muted">
Cytogenetic location:
<span class="mim-font">
<a href="/geneMap/7/48?start=-3&limit=10&highlight=48">
7p22.1</a></span>
</span>
<br />
<span class="text-success">Matching terms: <span class="mim-font">212840</span></span>
<br />
<a href="#mimPhenotypeMapFold_4" id="mimPhenotypeMapToggle_4" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'GeneMap'})"><span class="small"><span id="mimPhenotypeMapToggleTriangle_4" class="mimPingletonToggleTriangle" style="color: DarkOrchid">►</span> Phenotype-Gene Relationships</span></a>
<a href="#mimDisorderCodesFold_4" id="mimDisorderCodesToggle_4" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'ICD+'})"><span class="small"><span id="mimDisorderCodesToggleTriangle_4" class="mimSingletonToggleTriangle" style="color: DarkRed">►</span> ICD+</span></a>
<a href="#mimLinksFold_4" id="mimLinksToggle_4" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'Links'})"><span class="small"><span id="mimLinksToggleTriangle_4" class="mimSingletonToggleTriangle" style="color: #337CB5">►</span> Links</span></a>
<div id="mimPhenotypeMapFold_4" class="well well-sm collapse mimSingletonToggleFold">
<table class="table table-bordered table-condensed small mim-table-padding">
<caption>
Phenotype-Gene Relationships
</caption>
<thead>
<tr>
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/48?start=-3&limit=10&highlight=48">
7p22.1
</a>
</span>
</td>
<td>
<span class="mim-font">
Cerebellar ataxia and hypogonadotropic hypogonadism
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/212840"> 212840 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
RNF216
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609948"> 609948 </a>
</span>
</td>
</tr>
</tbody>
</table>
<div class="text-right small">
<a href="#mimPhenotypeMapFold_4" data-toggle="collapse">▲ Close</a>
</div>
</div>
<div id="mimLinksFold_4" class="well well-sm collapse mimSingletonToggleFold">
<table class="table table-condensed small mim-table-padding ">
<caption>
Links
</caption>
<tbody>
<tr>
<td>
<dl>
<dt>Testing</dt>
<dd><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=212840[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></dd>
<dd><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=1437&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></dd>
</dl>
</td>
<td>
<dl>
<dt>Clinical Resources</dt>
<dd><a href="https://clinicaltrials.gov/search?cond=GORDON HOLMES SYNDROME" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></dd>
<dd><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=1437&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></dd>
<dd><a href="https://www.ncbi.nlm.nih.gov/books/NBK247161/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></dd>
<dd><a href="https://medlineplus.gov/genetics/condition/gordon-holmes-syndrome" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></dd>
<dd><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=212840[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></dd>
<dd><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1173" 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></dd>
<dd><a href="https://www.possumcore.com/nuxeo/nxdoc/default/28588dc9-8956-462e-a60a-d1941094350b/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></dd>
</dl>
</td>
<td>
<dl>
<dt>Animal Models</dt>
<dd><a href="https://www.alliancegenome.org/disease/DOID:0111587" 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></dd>
<dd><a href="http://www.informatics.jax.org/disease/212840" 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></dd>
<dd><a href="https://wormbase.org/resources/disease/DOID:0111587" 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></dd>
</dl>
</td>
</tr>
</tbody>
</table>
<div class="text-right small">
<a href="#mimLinksFold_4" data-toggle="collapse">▲ Close</a>
</div>
</div>
<div id="mimDisorderCodesFold_4" class="well well-sm collapse mimSingletonToggleFold">
<table class="table table-condensed small mim-table-padding">
<caption>
ICD+
</caption>
<tbody>
<tr>
<td>
<dl>
<dd>SNOMEDCT: 230240004</dd>
<dd>ORPHA: 1173</dd>
<dd>DO: 0111587</dd>
</dl>
</td>
</tr>
</tbody>
</table>
<div class="text-right small">
<a href="#mimDisorderCodesFold_4" data-toggle="collapse">▲ Close</a>
</div>
</div>
</div>
</div>
<div class="row">
<p />
</div>
<div class="row">
<div class="col-lg-1 col-md-1 col-sm-1 col-xs-1" style="width: 2em;">
5:
</div>
<div class="col-lg-11 col-md-11 col-sm-11 col-xs-11">
<span class="mim-result-font">
<a href="/entry/215470?search=212840%20215470%20245800%20275400%20603197%20612020&highlight=212840%2C215470%2C245800%2C275400%2C603197%2C612020">
<span class="mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
215470.
</span>
BOUCHER-NEUHAUSER SYNDROME; BNHS
</a>
</span>
<br />
<span class="text-muted">
Cytogenetic location:
<span class="mim-font">
<a href="/geneMap/19/207?start=-3&limit=10&highlight=207">
19p13.2</a></span>
</span>
<br />
<span class="text-success">Matching terms: <span class="mim-font">215470</span></span>
<br />
<a href="#mimPhenotypeMapFold_5" id="mimPhenotypeMapToggle_5" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'GeneMap'})"><span class="small"><span id="mimPhenotypeMapToggleTriangle_5" class="mimPingletonToggleTriangle" style="color: DarkOrchid">►</span> Phenotype-Gene Relationships</span></a>
<a href="#mimDisorderCodesFold_5" id="mimDisorderCodesToggle_5" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'ICD+'})"><span class="small"><span id="mimDisorderCodesToggleTriangle_5" class="mimSingletonToggleTriangle" style="color: DarkRed">►</span> ICD+</span></a>
<a href="#mimLinksFold_5" id="mimLinksToggle_5" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'Links'})"><span class="small"><span id="mimLinksToggleTriangle_5" class="mimSingletonToggleTriangle" style="color: #337CB5">►</span> Links</span></a>
<div id="mimPhenotypeMapFold_5" class="well well-sm collapse mimSingletonToggleFold">
<table class="table table-bordered table-condensed small mim-table-padding">
<caption>
Phenotype-Gene Relationships
</caption>
<thead>
<tr>
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/207?start=-3&limit=10&highlight=207">
19p13.2
</a>
</span>
</td>
<td>
<span class="mim-font">
Boucher-Neuhauser syndrome
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/215470"> 215470 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
PNPLA6
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603197"> 603197 </a>
</span>
</td>
</tr>
</tbody>
</table>
<div class="text-right small">
<a href="#mimPhenotypeMapFold_5" data-toggle="collapse">▲ Close</a>
</div>
</div>
<div id="mimLinksFold_5" class="well well-sm collapse mimSingletonToggleFold">
<table class="table table-condensed small mim-table-padding ">
<caption>
Links
</caption>
<tbody>
<tr>
<td>
<dl>
<dt>Testing</dt>
<dd><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=215470[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></dd>
<dd><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=1438&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></dd>
</dl>
</td>
<td>
<dl>
<dt>Clinical Resources</dt>
<dd><a href="https://clinicaltrials.gov/search?cond=BOUCHER-NEUHAUSER SYNDROME" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></dd>
<dd><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=1438&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></dd>
<dd><a href="https://www.ncbi.nlm.nih.gov/books/NBK247161/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></dd>
<dd><a href="https://www.diseaseinfosearch.org/x/902" 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></dd>
<dd><a href="https://medlineplus.gov/genetics/condition/boucher-neuhauser-syndrome" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></dd>
<dd><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=215470[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></dd>
<dd><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1180" 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></dd>
<dd><a href="https://www.possumcore.com/nuxeo/nxdoc/default/670181c4-e046-4f3d-9527-d50654aa78fe/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></dd>
</dl>
</td>
<td>
<dl>
<dt>Animal Models</dt>
<dd><a href="https://www.alliancegenome.org/disease/DOID:0111265" 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></dd>
<dd><a href="http://www.informatics.jax.org/disease/215470" 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></dd>
<dd><a href="https://wormbase.org/resources/disease/DOID:0111265" 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></dd>
</dl>
</td>
</tr>
</tbody>
</table>
<div class="text-right small">
<a href="#mimLinksFold_5" data-toggle="collapse">▲ Close</a>
</div>
</div>
<div id="mimDisorderCodesFold_5" class="well well-sm collapse mimSingletonToggleFold">
<table class="table table-condensed small mim-table-padding">
<caption>
ICD+
</caption>
<tbody>
<tr>
<td>
<dl>
<dd>SNOMEDCT: 715984007</dd>
<dd>ORPHA: 1180</dd>
<dd>DO: 0111265</dd>
</dl>
</td>
</tr>
</tbody>
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6:
</div>
<div class="col-lg-11 col-md-11 col-sm-11 col-xs-11">
<span class="mim-result-font">
<a href="/entry/245800?search=212840%20215470%20245800%20275400%20603197%20612020&highlight=212840%2C215470%2C245800%2C275400%2C603197%2C612020">
<span class="mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
245800.
</span>
LAURENCE-MOON SYNDROME; LNMS
</a>
</span>
<br />
<span class="text-muted">
Cytogenetic location:
<span class="mim-font">
<a href="/geneMap/19/207?start=-3&limit=10&highlight=207">
19p13.2</a></span>
</span>
<br />
<span class="text-success">Matching terms: <span class="mim-font">245800</span></span>
<br />
<a href="#mimPhenotypeMapFold_6" id="mimPhenotypeMapToggle_6" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'GeneMap'})"><span class="small"><span id="mimPhenotypeMapToggleTriangle_6" class="mimPingletonToggleTriangle" style="color: DarkOrchid">►</span> Phenotype-Gene Relationships</span></a>
<a href="#mimDisorderCodesFold_6" id="mimDisorderCodesToggle_6" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'ICD+'})"><span class="small"><span id="mimDisorderCodesToggleTriangle_6" class="mimSingletonToggleTriangle" style="color: DarkRed">►</span> ICD+</span></a>
<a href="#mimLinksFold_6" id="mimLinksToggle_6" class="mimSingletonFoldToggle" data-toggle="collapse" onclick="gtag('event', 'mim_unfurl', {'fold': 'Links'})"><span class="small"><span id="mimLinksToggleTriangle_6" class="mimSingletonToggleTriangle" style="color: #337CB5">►</span> Links</span></a>
<div id="mimPhenotypeMapFold_6" class="well well-sm collapse mimSingletonToggleFold">
<table class="table table-bordered table-condensed small mim-table-padding">
<caption>
Phenotype-Gene Relationships
</caption>
<thead>
<tr>
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/207?start=-3&limit=10&highlight=207">
19p13.2
</a>
</span>
</td>
<td>
<span class="mim-font">
?Laurence-Moon syndrome
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/245800"> 245800 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
PNPLA6
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603197"> 603197 </a>
</span>
</td>
</tr>
</tbody>
</table>
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<a href="#mimPhenotypeMapFold_6" data-toggle="collapse">▲ Close</a>
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</div>
<div id="mimLinksFold_6" class="well well-sm collapse mimSingletonToggleFold">
<table class="table table-condensed small mim-table-padding ">
<caption>
Links
</caption>
<tbody>
<tr>
<td>
<dl>
<dt>Testing</dt>
<dd><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=245800[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></dd>
<dd><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=531&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></dd>
</dl>
</td>
<td>
<dl>
<dt>Clinical Resources</dt>
<dd><a href="https://clinicaltrials.gov/search?cond=LAURENCE-MOON SYNDROME" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></dd>
<dd><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=531&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></dd>
<dd><a href="https://www.ncbi.nlm.nih.gov/books/NBK247161/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></dd>
<dd><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=245800[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></dd>
<dd><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2377" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></dd>
<dd><a href="https://www.possumcore.com/nuxeo/nxdoc/default/c63b568f-faaf-4251-8a57-de0350398b19/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></dd>
</dl>
</td>
<td>
<dl>
<dt>Animal Models</dt>
<dd><a href="https://www.alliancegenome.org/disease/DOID:1930" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></dd>
<dd><a href="http://www.informatics.jax.org/disease/245800" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></dd>
<dd><a href="https://wormbase.org/resources/disease/DOID:1930" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></dd>
</dl>
</td>
<td>
<dl>
<dt>Cell Lines</dt>
<dd><a href="https://catalog.coriell.org/Search?q=OmimNum:245800" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></dd>
</dl>
</td>
</tr>
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<div id="mimDisorderCodesFold_6" class="well well-sm collapse mimSingletonToggleFold">
<table class="table table-condensed small mim-table-padding">
<caption>
ICD+
</caption>
<tbody>
<tr>
<td>
<dl>
<dd>SNOMEDCT: 232059000, 5619004</dd>
<dd>ICD10CM: Q87.84</dd>
<dd>ORPHA: 2377</dd>
<dd>DO: 1930</dd>
</dl>
</td>
</tr>
</tbody>
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Search: <span class="mim-text-font">212840 215470 245800 275400 603197 612020 (Search in: MIM number)</span>
</div>
</div>
<div class="row">
<div class="col-lg-3 col-md-3 col-sm-3 col-xs-3">
Results: 6 entries.
</div>
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<p />
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<div class="row">
<div class="col-lg-1 col-md-1 col-sm-1 col-xs-1" style="width: 2em;">
1:
</div>
<div class="col-lg-11 col-md-11 col-sm-11 col-xs-11">
<span class="mim-result-font">
<span class="text-danger"><strong>*</strong></span>
603197.
PATATIN-LIKE PHOSPHOLIPASE DOMAIN-CONTAINING PROTEIN 6; PNPLA6
</span>
<br />
<span class="text-muted">
Cytogenetic location: <span class="mim-font">19p13.2</span>,
Genomic coordinates <span class="small">(GRCh38)</span>: <span class="mim-font">19:7,534,164-7,561,767</span>
</span>
<br />
<span class="text-success">Matching terms: <span class="mim-font">603197</span></span>
</div>
</div>
<div class="row">
<p />
</div>
<div class="row">
<div class="col-lg-1 col-md-1 col-sm-1 col-xs-1" style="width: 2em;">
2:
</div>
<div class="col-lg-11 col-md-11 col-sm-11 col-xs-11">
<span class="mim-result-font">
<span class="text-danger"><strong>#</strong></span>
275400.
OLIVER-MCFARLANE SYNDROME; OMCS
</span>
<br />
<span class="text-muted">
Cytogenetic location:
<span class="mim-font">19p13.2</a></span>
</span>
<br />
<span class="text-success">Matching terms: <span class="mim-font">275400</span></span>
</div>
</div>
<div class="row">
<p />
</div>
<div class="row">
<div class="col-lg-1 col-md-1 col-sm-1 col-xs-1" style="width: 2em;">
3:
</div>
<div class="col-lg-11 col-md-11 col-sm-11 col-xs-11">
<span class="mim-result-font">
<span class="text-danger"><strong>#</strong></span>
612020.
SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE; SPG39
</span>
<br />
<span class="text-muted">
Cytogenetic location:
<span class="mim-font">19p13.2</a></span>
</span>
<br />
<span class="text-success">Matching terms: <span class="mim-font">612020</span></span>
</div>
</div>
<div class="row">
<p />
</div>
<div class="row">
<div class="col-lg-1 col-md-1 col-sm-1 col-xs-1" style="width: 2em;">
4:
</div>
<div class="col-lg-11 col-md-11 col-sm-11 col-xs-11">
<span class="mim-result-font">
<span class="text-danger"><strong>#</strong></span>
212840.
GORDON HOLMES SYNDROME; GDHS
</span>
<br />
<span class="text-muted">
Cytogenetic location:
<span class="mim-font">7p22.1</a></span>
</span>
<br />
<span class="text-success">Matching terms: <span class="mim-font">212840</span></span>
</div>
</div>
<div class="row">
<p />
</div>
<div class="row">
<div class="col-lg-1 col-md-1 col-sm-1 col-xs-1" style="width: 2em;">
5:
</div>
<div class="col-lg-11 col-md-11 col-sm-11 col-xs-11">
<span class="mim-result-font">
<span class="text-danger"><strong>#</strong></span>
215470.
BOUCHER-NEUHAUSER SYNDROME; BNHS
</span>
<br />
<span class="text-muted">
Cytogenetic location:
<span class="mim-font">19p13.2</a></span>
</span>
<br />
<span class="text-success">Matching terms: <span class="mim-font">215470</span></span>
</div>
</div>
<div class="row">
<p />
</div>
<div class="row">
<div class="col-lg-1 col-md-1 col-sm-1 col-xs-1" style="width: 2em;">
6:
</div>
<div class="col-lg-11 col-md-11 col-sm-11 col-xs-11">
<span class="mim-result-font">
<span class="text-danger"><strong>#</strong></span>
245800.
LAURENCE-MOON SYNDROME; LNMS
</span>
<br />
<span class="text-muted">
Cytogenetic location:
<span class="mim-font">19p13.2</a></span>
</span>
<br />
<span class="text-success">Matching terms: <span class="mim-font">245800</span></span>
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