2416 lines
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Entry
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- %243910 - ARIMA SYNDROME
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- OMIM
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<p>
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<span class="h4">%243910</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="/clinicalSynopsis/243910"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#diagnosis">Diagnosis</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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<div><a href="https://clinicaltrials.gov/search?cond=ARIMA SYNDROME" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=519&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1325/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2318" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/785c9c50-50f2-4789-8cd2-b96b0f7e6b60/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
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<div style="display: table-cell;">Animal Models</div>
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<div><a href="https://omia.org/OMIA000219/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="title" class="mim-anchor"></a>
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 721862000<br />
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<strong>ORPHA:</strong> 2318<br />
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">ICD+</a>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description or locus, molecular basis unknown">
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<span class="text-danger"><strong>%</strong></span>
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243910
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<a id="preferredTitle" class="mim-anchor"></a>
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ARIMA SYNDROME
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<br />
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<a id="alternativeTitles" class="mim-anchor"></a>
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<em>Alternative titles; symbols</em>
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<h4>
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<span class="mim-font">
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DEKABAN-ARIMA SYNDROME<br />
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JOUBERT SYNDROME WITH BILATERAL CHORIORETINAL COLOBOMA<br />
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COLOBOMA, CHORIORETINAL, WITH CEREBELLAR VERMIS APLASIA<br />
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CEREBROOCULOHEPATORENAL SYNDROME
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<a href="/clinicalSynopsis/243910" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<span class="h5 mim-font">
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<strong> INHERITANCE </strong>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
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<span class="h5 mim-font">
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<strong> HEAD & NECK </strong>
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<span class="h5 mim-font">
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<em> Eyes </em>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Vision impairment from infancy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855684&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855684</a>]</span><br /> -
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Blindness <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0456909&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0456909</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000618" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000618</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000618" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000618</a>]</span><br /> -
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Chorioretinal coloboma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204173008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204173008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/39302008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">39302008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q14.8" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q14.8</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/743.52" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.52</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3540764&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3540764</a>, <a href="https://bioportal.bioontology.org/search?q=C0240896&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240896</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000480" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000480</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0000567" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000567</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000567" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000567</a>]</span><br /> -
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Retinal dystrophy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/314407005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">314407005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0854723&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0854723</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000556" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000556</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000556" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000556</a>]</span><br /> -
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Nystagmus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/563001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">563001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H55.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H55.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H55.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H55.00</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/379.50" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">379.50</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0028738&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0028738</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000639" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000639</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000639" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000639</a>]</span><br /> -
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|
Abnormal eye movements <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/103252009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">103252009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0497202&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0497202</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000496" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000496</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000496" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000496</a>]</span><br /> -
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Blepharoptosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/11934000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">11934000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H02.409" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H02.409</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H02.40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H02.40</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H02.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H02.4</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/374.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">374.3</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/374.30" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">374.30</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0005745&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0005745</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000508</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000508</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=76abf29563d4adc64d21da86221224b1" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Ptosis-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=76abf29563d4adc64d21da86221224b1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
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Extinguished electroretinogram <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855685&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855685</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000550" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000550</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000550" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000550</a>]</span><br />
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</span>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
|
<em> Mouth </em>
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</span>
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</div>
|
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<div style="margin-left: 2em;">
|
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<span class="mim-font">
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|
- Large mouth <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/40159009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">40159009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q18.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q18.4</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/744.83" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">744.83</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0024433&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0024433</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000154" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000154</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000154" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000154</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> RESPIRATORY </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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|
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- Neonatal tachypnea <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1112613&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1112613</a>]</span><br /> -
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Neonatal dyspnea <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806386&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806386</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> ABDOMEN </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<div>
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<span class="h5 mim-font">
|
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<em> Liver </em>
|
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</span>
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</div>
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<div style="margin-left: 2em;">
|
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<span class="mim-font">
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- Hepatic fibrosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/62484002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">62484002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K74.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K74.00</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/K74.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K74.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0239946&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0239946</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001395" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001395</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001395" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001395</a>]</span><br /> -
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Hepatic steatosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/442191002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">442191002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/197321007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">197321007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2711227&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2711227</a>, <a href="https://bioportal.bioontology.org/search?q=C0015695&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0015695</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001397" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001397</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001397" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001397</a>]</span><br /> -
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Hepatomegaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/80515008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">80515008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R16.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R16.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/789.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">789.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0019209&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019209</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002240" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002240</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002240" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002240</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
|
<strong> GENITOURINARY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
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<div>
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<div>
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<span class="h5 mim-font">
|
|
<em> Kidneys </em>
|
|
</span>
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</div>
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<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
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|
|
- Juvenile nephronophthisis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/444830001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">444830001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204958008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204958008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q61.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q61.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855681&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855681</a>, <a href="https://bioportal.bioontology.org/search?q=C0687120&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0687120</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008659" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008659</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0000090" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000090</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000090" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000090</a>]</span><br /> -
|
|
Polycystic kidneys <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/82525005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">82525005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q61.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q61.3</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/753.12" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">753.12</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1567435&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1567435</a>, <a href="https://bioportal.bioontology.org/search?q=C0022680&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022680</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000113" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000113</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000113" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000113</a>]</span><br /> -
|
|
Renal insufficiency <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/723188008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">723188008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/42399005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">42399005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/236423003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">236423003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N19" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N19</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/586" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">586</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1565489&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1565489</a>, <a href="https://bioportal.bioontology.org/search?q=C0035078&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0035078</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000083" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000083</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000083" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000083</a>]</span><br /> -
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|
Corticomedullary cysts <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1858394&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1858394</a>]</span><br /> -
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Interstitial fibrosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/125565008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">125565008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3887486&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3887486</a>]</span><br /> -
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Tubular atrophy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1858395&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1858395</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000092" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000092</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000092" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000092</a>]</span><br /> -
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Thickened tubular basement membrane <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855682&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855682</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0020132" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0020132</a>]</span><br /> -
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End-stage renal disease develops in childhood <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855683&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855683</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> SKELETAL </strong>
|
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</span>
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</div>
|
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<div style="margin-left: 2em;">
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<div>
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<div>
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<span class="h5 mim-font">
|
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<em> Hands </em>
|
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</span>
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</div>
|
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<div style="margin-left: 2em;">
|
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<span class="mim-font">
|
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|
|
- Postaxial polydactyly <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0220697&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0220697</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100259" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100259</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100259" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100259</a>]</span><br />
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</span>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
|
<em> Feet </em>
|
|
</span>
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</div>
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<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
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|
|
- Postaxial polydactyly <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0220697&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0220697</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100259" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100259</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100259" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100259</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
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</span>
|
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</div>
|
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<div style="margin-left: 2em;">
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<div>
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<div>
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<span class="h5 mim-font">
|
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<em> Central Nervous System </em>
|
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</span>
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</div>
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<div style="margin-left: 2em;">
|
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<span class="mim-font">
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|
|
- Cerebellar vermis aplasia/ hypoplasia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855676&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855676</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006817" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006817</a>]</span><br /> -
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Ataxia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/20262006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">20262006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/39384006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">39384006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/85102008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">85102008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R27.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R27.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/438.84" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">438.84</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0004134&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0004134</a>, <a href="https://bioportal.bioontology.org/search?q=C1135207&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1135207</a>, <a href="https://bioportal.bioontology.org/search?q=C0007758&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0007758</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001251" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001251</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0010867" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010867</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001251" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001251</a>]</span><br /> -
|
|
Developmental delay <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/248290002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">248290002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/224958001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">224958001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F88" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F88</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/315.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">315.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0557874&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0557874</a>, <a href="https://bioportal.bioontology.org/search?q=C0424605&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0424605</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001263" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001263</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001263" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001263</a>]</span><br /> -
|
|
Psychomotor retardation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398991009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398991009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1144814003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1144814003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0424230&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0424230</a>, <a href="https://bioportal.bioontology.org/search?q=C5441816&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5441816</a>]</span><br /> -
|
|
Mental retardation, severe <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/40700009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">40700009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F72" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F72</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/318.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">318.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0036857&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036857</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010864" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010864</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010864" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010864</a>]</span><br /> -
|
|
Hypotonia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398151007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398151007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398152000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398152000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026827&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026827</a>, <a href="https://bioportal.bioontology.org/search?q=C1858120&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1858120</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001290" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001290</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001252</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001252</a>]</span><br /> -
|
|
Cerebellar heterotopia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856020&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856020</a>]</span><br /> -
|
|
Brainstem hypoplasia/dysplasia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855677&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855677</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002508</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002508</a>]</span><br /> -
|
|
Hypoplasia and displacement of the corticospinal fibers within the brainstem <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855678&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855678</a>]</span><br /> -
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<p>Arima syndrome is an autosomal recessive disorder characterized by agenesis of the cerebellar vermis, ocular abnormalities, cystic kidney disease, and, in some cases, liver disease. It shares phenotypic features with Joubert syndrome (see <a href="/entry/213300">213300</a>), COACH syndrome (see <a href="/entry/216360">216360</a>), and familial juvenile nephronophthisis (see <a href="/entry/256100">256100</a>).</p>
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<p><a href="#2" class="mim-tip-reference" title="Dekaban, A. S. <strong>Hereditary syndrome of congenital retinal blindness (Leber), polycystic kidneys and maldevelopment of the brain.</strong> Am. J. Ophthal. 68: 1029-1037, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5362879/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5362879</a>] [<a href="https://doi.org/10.1016/0002-9394(69)93443-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5362879">Dekaban (1969)</a> reported 2 sibs with congenital retinal blindness (Leber), polycystic kidneys, and maldevelopment of the brain, including agenesis of the cerebellar vermis. <a href="#1" class="mim-tip-reference" title="Arima, M., Ono, K., Hisada, K., Handa, T. <strong>A familial syndrome of maldevelopment of the brain, polycystic kidneys, congenital tapetoretinal dysplasia with coloboma and unilateral ptosis.</strong> No To Hattatsu 3: 330-331, 1971. Note: Article in Japanese."None>Arima et al. (1971)</a> reported 2 sibs and an unrelated girl with blindness, severe psychomotor retardation, hypotonia since early infancy, agenesis of the cerebellar vermis, and polycystic kidneys. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5362879" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="Matsuzaka, T., Sakuragawa, N., Nakayama, H., Sugai, K., Kohno, Y., Arima, M. <strong>Cerebro-oculo-hepato-renal syndrome (Arima's syndrome): a distinct clinocopathological (sic) entity.</strong> J. Child Neurol. 1: 338-346, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3598133/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3598133</a>] [<a href="https://doi.org/10.1177/088307388600100404" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3598133">Matsuzaka et al. (1986)</a> reported 3 unrelated patients, 2 boys and a girl, with severe visual impairment from early infancy, psychomotor retardation, hypotonia, nystagmus, blepharoptosis, and progressive chronic renal insufficiency. Postmortem examination of the 2 boys, who died at ages 12 and 13 years, showed almost total aplasia of the cerebellar vermis, malformations of the brainstem, including pachygyria of the inferior olivary nuclei and partial absence and anomalous position of the pyramidal tracts, and polycystic kidneys. One patient had hepatic steatosis and the other had hepatic fibrosis. <a href="#10" class="mim-tip-reference" title="Matsuzaka, T., Sakuragawa, N., Nakayama, H., Sugai, K., Kohno, Y., Arima, M. <strong>Cerebro-oculo-hepato-renal syndrome (Arima's syndrome): a distinct clinocopathological (sic) entity.</strong> J. Child Neurol. 1: 338-346, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3598133/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3598133</a>] [<a href="https://doi.org/10.1177/088307388600100404" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3598133">Matsuzaka et al. (1986)</a> concluded that the constellation of findings was consistent with a distinct clinicopathologic entity, which they termed 'cerebro-oculo-hepato-renal syndrome,' or 'Arima syndrome.' <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3598133" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Lindhout, D., Barth, P. G., Valk, J., Boen-Tan, T. N. <strong>The Joubert syndrome associated with bilateral chorioretinal coloboma.</strong> Europ. J. Pediat. 134: 173-176, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7439204/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7439204</a>] [<a href="https://doi.org/10.1007/BF01846041" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7439204">Lindhout et al. (1980)</a> reported a case of Joubert syndrome with associated bilateral chorioretinal coloboma, which the authors noted had not previously been reported in Joubert syndrome. <a href="#11" class="mim-tip-reference" title="Pfeiffer, R. A. <strong>The Joubert syndrome associated with bilateral chorioretinal coloboma. (Letter)</strong> Europ. J. Pediat. 137: 101-102, 1981."None>Pfeiffer (1981)</a> also reported Joubert syndrome associated with bilateral chorioretinal coloboma. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7439204" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#12" class="mim-tip-reference" title="Saraiva, J. M., Baraitser, M. <strong>Joubert syndrome: a review.</strong> Am. J. Med. Genet. 43: 726-731, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1341417/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1341417</a>] [<a href="https://doi.org/10.1002/ajmg.1320430415" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1341417">Saraiva and Baraitser (1992)</a> suggested that patients with Joubert syndrome fall into 2 groups: those with retinal dystrophy and those without. They observed that retinal dystrophy ran true in families and was never absent when renal cysts were present. The renal cysts were multiple, small, and cortical; affected kidneys also had interstitial chronic inflammation and fibrosis. The histopathologic changes had not been reported in patients without retinal dystrophy. The conclusions were based on 72 previously reported cases and 29 new cases with the possible diagnosis of Joubert syndrome. <a href="#12" class="mim-tip-reference" title="Saraiva, J. M., Baraitser, M. <strong>Joubert syndrome: a review.</strong> Am. J. Med. Genet. 43: 726-731, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1341417/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1341417</a>] [<a href="https://doi.org/10.1002/ajmg.1320430415" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1341417">Saraiva and Baraitser (1992)</a> suggested that the form of Joubert syndrome with retinal dystrophy could be called Dekaban syndrome, since it was first reported by <a href="#2" class="mim-tip-reference" title="Dekaban, A. S. <strong>Hereditary syndrome of congenital retinal blindness (Leber), polycystic kidneys and maldevelopment of the brain.</strong> Am. J. Ophthal. 68: 1029-1037, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5362879/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5362879</a>] [<a href="https://doi.org/10.1016/0002-9394(69)93443-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5362879">Dekaban (1969)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5362879+1341417" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Ivarsson, S.-A., Bjerre, I., Brun, A., Ljungberg, O., Maly, E., Taylor, I. <strong>Joubert syndrome associated with Leber amaurosis and multicystic kidneys.</strong> Am. J. Med. Genet. 45: 542-547, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8456821/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8456821</a>] [<a href="https://doi.org/10.1002/ajmg.1320450503" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8456821">Ivarsson et al. (1993)</a> described a boy with manifestations of Joubert syndrome, retinal dystrophy (which they referred to as Leber congenital amaurosis), and multicystic kidneys. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8456821" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Lewis, S. M. E., Roberts, E. A., Marcon, M. A., Harvey, E., Phillips, M. J., Chuang, S. A., Buncic, J. R., Clarke, J. T. R. <strong>Joubert syndrome with congenital hepatic fibrosis: an entity in the spectrum of oculo-encephalo-hepato-renal disorders.</strong> Am. J. Med. Genet. 52: 419-426, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7538263/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7538263</a>] [<a href="https://doi.org/10.1002/ajmg.1320520406" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7538263">Lewis et al. (1994)</a> described 2 unrelated children with Joubert syndrome and hepatosplenomegaly. On histopathologic examination, both had congenital hepatic fibrosis. Both were also found to have congenital medullary cystic disease of the kidneys. <a href="#8" class="mim-tip-reference" title="Lewis, S. M. E., Roberts, E. A., Marcon, M. A., Harvey, E., Phillips, M. J., Chuang, S. A., Buncic, J. R., Clarke, J. T. R. <strong>Joubert syndrome with congenital hepatic fibrosis: an entity in the spectrum of oculo-encephalo-hepato-renal disorders.</strong> Am. J. Med. Genet. 52: 419-426, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7538263/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7538263</a>] [<a href="https://doi.org/10.1002/ajmg.1320520406" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7538263">Lewis et al. (1994)</a> suggested that Joubert syndrome is a member of a spectrum of congenital malformation syndromes involving the CNS, eye, liver, and kidneys. The authors noted phenotypic overlap with COACH syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7538263" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Kumada, S., Hayashi, M., Arima, K., Nakayama, H., Sugai, K., Sasaki, M., Kurata, K., Nagata, M. <strong>Renal disease in Arima syndrome is nephronophthisis as in other Joubert-related cerebello-oculo-renal syndromes.</strong> Am. J. Med. Genet. 131A: 71-76, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15384098/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15384098</a>] [<a href="https://doi.org/10.1002/ajmg.a.30294" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15384098">Kumada et al. (2004)</a> reported pathologic features of renal disease in 5 patients with Arima syndrome: 2 patients had been reported by <a href="#10" class="mim-tip-reference" title="Matsuzaka, T., Sakuragawa, N., Nakayama, H., Sugai, K., Kohno, Y., Arima, M. <strong>Cerebro-oculo-hepato-renal syndrome (Arima's syndrome): a distinct clinocopathological (sic) entity.</strong> J. Child Neurol. 1: 338-346, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3598133/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3598133</a>] [<a href="https://doi.org/10.1177/088307388600100404" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3598133">Matsuzaka et al. (1986)</a>; 1 patient had been reported by <a href="#1" class="mim-tip-reference" title="Arima, M., Ono, K., Hisada, K., Handa, T. <strong>A familial syndrome of maldevelopment of the brain, polycystic kidneys, congenital tapetoretinal dysplasia with coloboma and unilateral ptosis.</strong> No To Hattatsu 3: 330-331, 1971. Note: Article in Japanese."None>Arima et al. (1971)</a>; and 1 patient, born of consanguineous parents, had been reported by <a href="#5" class="mim-tip-reference" title="Koya, G., Shinohara, T., Morimatsu, Y., Miura, M. <strong>Congenital polycystic kidney syndrome--three cases with agenesis of cerebellar vermis and displacement of pyramidal tract among the brainstem.</strong> No To Hattatsu 5: 229-241, 1973."None>Koya et al. (1973)</a>. Every patient developed end-stage renal disease during childhood, characterized primarily by renal sodium wasting and disturbances of urine concentration. The patients also had polyuria, polydipsia, anemia, and growth retardation. Grossly, the kidneys were small with granular capsular surfaces, and contained multiple cysts of various sizes throughout the organ. Histologic examination showed interstitial fibrosis, mononuclear cell infiltration, tubular atrophy with cyst formation, and accumulation of PAS-positive material around the tubules consistent with a thickened tubular basement membrane. Tubular cysts were predominantly located at the corticomedullary areas. Anatomical abnormalities of the ureters and bladder were not observed. <a href="#6" class="mim-tip-reference" title="Kumada, S., Hayashi, M., Arima, K., Nakayama, H., Sugai, K., Sasaki, M., Kurata, K., Nagata, M. <strong>Renal disease in Arima syndrome is nephronophthisis as in other Joubert-related cerebello-oculo-renal syndromes.</strong> Am. J. Med. Genet. 131A: 71-76, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15384098/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15384098</a>] [<a href="https://doi.org/10.1002/ajmg.a.30294" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15384098">Kumada et al. (2004)</a> suggested that the renal disease in their patients with Arima syndrome was most consistent with nephronophthisis, and not cystic dysplastic kidney or infantile polycystic kidney. They emphasized the phenotypic overlap and diagnostic difficulties among Arima syndrome, Joubert syndrome, COACH syndrome, and some forms of familial nephronophthisis. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3598133+15384098" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#3" class="mim-tip-reference" title="Di Rocco, M. <strong>On Saraiva and Baraitser and Joubert syndrome: a review. (Letter)</strong> Am. J. Med. Genet. 46: 732 only, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8362922/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8362922</a>] [<a href="https://doi.org/10.1002/ajmg.1320460630" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8362922">Di Rocco (1993)</a> suggested that 'Joubert syndrome with retinal dystrophy and renal cysts' may represent the carbohydrate-deficient glycoprotein syndrome (CDG; <a href="/entry/212065">212065</a>). She further suggested that the CDG syndrome must be considered in any patient with cerebellar dysplasia and renal or liver abnormalities. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8362922" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Prenatal Diagnosis</em></strong></p><p>
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In a subsequent pregnancy of the mother of a child with Joubert syndrome and multicystic kidneys, <a href="#4" class="mim-tip-reference" title="Ivarsson, S.-A., Bjerre, I., Brun, A., Ljungberg, O., Maly, E., Taylor, I. <strong>Joubert syndrome associated with Leber amaurosis and multicystic kidneys.</strong> Am. J. Med. Genet. 45: 542-547, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8456821/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8456821</a>] [<a href="https://doi.org/10.1002/ajmg.1320450503" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8456821">Ivarsson et al. (1993)</a> made the prenatal diagnosis on the basis of ultrasound, which demonstrated an occipital meningocele and multiple cysts of both kidneys, at 17 weeks of gestation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8456821" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#Laverda1984" class="mim-tip-reference" title="Laverda, A. M., Saia, O. S., Drigo, P., Danieli, E., Clementi, M., Tenconi, R. <strong>Choroidoretinal coloboma and Joubert syndrome: a nonrandom association.</strong> J. Pediat. 105: 282-284, 1984.">Laverda et al. (1984)</a>
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<a id="Arima1971" class="mim-anchor"></a>
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Arima, M., Ono, K., Hisada, K., Handa, T.
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<strong>A familial syndrome of maldevelopment of the brain, polycystic kidneys, congenital tapetoretinal dysplasia with coloboma and unilateral ptosis.</strong>
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No To Hattatsu 3: 330-331, 1971. Note: Article in Japanese.
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<a id="Dekaban1969" class="mim-anchor"></a>
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Dekaban, A. S.
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<strong>Hereditary syndrome of congenital retinal blindness (Leber), polycystic kidneys and maldevelopment of the brain.</strong>
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Am. J. Ophthal. 68: 1029-1037, 1969.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5362879/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5362879</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5362879" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0002-9394(69)93443-6" target="_blank">Full Text</a>]
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<a id="Di Rocco1993" class="mim-anchor"></a>
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Di Rocco, M.
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<strong>On Saraiva and Baraitser and Joubert syndrome: a review. (Letter)</strong>
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Am. J. Med. Genet. 46: 732 only, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8362922/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8362922</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8362922" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320460630" target="_blank">Full Text</a>]
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<a id="Ivarsson1993" class="mim-anchor"></a>
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Ivarsson, S.-A., Bjerre, I., Brun, A., Ljungberg, O., Maly, E., Taylor, I.
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<strong>Joubert syndrome associated with Leber amaurosis and multicystic kidneys.</strong>
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Am. J. Med. Genet. 45: 542-547, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8456821/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8456821</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8456821" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320450503" target="_blank">Full Text</a>]
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<a id="Koya1973" class="mim-anchor"></a>
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Koya, G., Shinohara, T., Morimatsu, Y., Miura, M.
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<strong>Congenital polycystic kidney syndrome--three cases with agenesis of cerebellar vermis and displacement of pyramidal tract among the brainstem.</strong>
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No To Hattatsu 5: 229-241, 1973.
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Kumada, S., Hayashi, M., Arima, K., Nakayama, H., Sugai, K., Sasaki, M., Kurata, K., Nagata, M.
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<strong>Renal disease in Arima syndrome is nephronophthisis as in other Joubert-related cerebello-oculo-renal syndromes.</strong>
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Am. J. Med. Genet. 131A: 71-76, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15384098/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15384098</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15384098" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.30294" target="_blank">Full Text</a>]
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<a id="Laverda1984" class="mim-anchor"></a>
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Laverda, A. M., Saia, O. S., Drigo, P., Danieli, E., Clementi, M., Tenconi, R.
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<strong>Choroidoretinal coloboma and Joubert syndrome: a nonrandom association.</strong>
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J. Pediat. 105: 282-284, 1984.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6747764/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6747764</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6747764" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0022-3476(84)80133-x" target="_blank">Full Text</a>]
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Lewis, S. M. E., Roberts, E. A., Marcon, M. A., Harvey, E., Phillips, M. J., Chuang, S. A., Buncic, J. R., Clarke, J. T. R.
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<strong>Joubert syndrome with congenital hepatic fibrosis: an entity in the spectrum of oculo-encephalo-hepato-renal disorders.</strong>
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Am. J. Med. Genet. 52: 419-426, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7538263/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7538263</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7538263" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320520406" target="_blank">Full Text</a>]
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<a id="Lindhout1980" class="mim-anchor"></a>
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Lindhout, D., Barth, P. G., Valk, J., Boen-Tan, T. N.
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<strong>The Joubert syndrome associated with bilateral chorioretinal coloboma.</strong>
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Europ. J. Pediat. 134: 173-176, 1980.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7439204/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7439204</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7439204" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF01846041" target="_blank">Full Text</a>]
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<a id="Matsuzaka1986" class="mim-anchor"></a>
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Matsuzaka, T., Sakuragawa, N., Nakayama, H., Sugai, K., Kohno, Y., Arima, M.
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<strong>Cerebro-oculo-hepato-renal syndrome (Arima's syndrome): a distinct clinocopathological (sic) entity.</strong>
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J. Child Neurol. 1: 338-346, 1986.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3598133/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3598133</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3598133" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1177/088307388600100404" target="_blank">Full Text</a>]
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Pfeiffer, R. A.
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<strong>The Joubert syndrome associated with bilateral chorioretinal coloboma. (Letter)</strong>
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Europ. J. Pediat. 137: 101-102, 1981.
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Saraiva, J. M., Baraitser, M.
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<strong>Joubert syndrome: a review.</strong>
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Am. J. Med. Genet. 43: 726-731, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1341417/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1341417</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1341417" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320430415" target="_blank">Full Text</a>]
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Cassandra L. Kniffin - reorganized : 1/20/2005
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Cassandra L. Kniffin - updated : 1/4/2005<br>Victor A. McKusick - updated : 6/10/2004
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Victor A. McKusick : 6/3/1986
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carol : 07/20/2011<br>carol : 12/7/2010<br>carol : 9/8/2008<br>terry : 2/22/2005<br>terry : 2/21/2005<br>tkritzer : 1/20/2005<br>ckniffin : 1/4/2005<br>terry : 6/10/2004<br>pfoster : 9/7/1995<br>terry : 5/25/1995<br>carol : 5/13/1994<br>mimadm : 4/14/1994<br>carol : 9/23/1993<br>carol : 7/16/1992
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<strong>%</strong> 243910
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ARIMA SYNDROME
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DEKABAN-ARIMA SYNDROME<br />
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JOUBERT SYNDROME WITH BILATERAL CHORIORETINAL COLOBOMA<br />
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COLOBOMA, CHORIORETINAL, WITH CEREBELLAR VERMIS APLASIA<br />
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CEREBROOCULOHEPATORENAL SYNDROME
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<strong>SNOMEDCT:</strong> 721862000;
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<strong>ORPHA:</strong> 2318;
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<p>Arima syndrome is an autosomal recessive disorder characterized by agenesis of the cerebellar vermis, ocular abnormalities, cystic kidney disease, and, in some cases, liver disease. It shares phenotypic features with Joubert syndrome (see 213300), COACH syndrome (see 216360), and familial juvenile nephronophthisis (see 256100).</p>
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<p>Dekaban (1969) reported 2 sibs with congenital retinal blindness (Leber), polycystic kidneys, and maldevelopment of the brain, including agenesis of the cerebellar vermis. Arima et al. (1971) reported 2 sibs and an unrelated girl with blindness, severe psychomotor retardation, hypotonia since early infancy, agenesis of the cerebellar vermis, and polycystic kidneys. </p><p>Matsuzaka et al. (1986) reported 3 unrelated patients, 2 boys and a girl, with severe visual impairment from early infancy, psychomotor retardation, hypotonia, nystagmus, blepharoptosis, and progressive chronic renal insufficiency. Postmortem examination of the 2 boys, who died at ages 12 and 13 years, showed almost total aplasia of the cerebellar vermis, malformations of the brainstem, including pachygyria of the inferior olivary nuclei and partial absence and anomalous position of the pyramidal tracts, and polycystic kidneys. One patient had hepatic steatosis and the other had hepatic fibrosis. Matsuzaka et al. (1986) concluded that the constellation of findings was consistent with a distinct clinicopathologic entity, which they termed 'cerebro-oculo-hepato-renal syndrome,' or 'Arima syndrome.' </p><p>Lindhout et al. (1980) reported a case of Joubert syndrome with associated bilateral chorioretinal coloboma, which the authors noted had not previously been reported in Joubert syndrome. Pfeiffer (1981) also reported Joubert syndrome associated with bilateral chorioretinal coloboma. </p><p>Saraiva and Baraitser (1992) suggested that patients with Joubert syndrome fall into 2 groups: those with retinal dystrophy and those without. They observed that retinal dystrophy ran true in families and was never absent when renal cysts were present. The renal cysts were multiple, small, and cortical; affected kidneys also had interstitial chronic inflammation and fibrosis. The histopathologic changes had not been reported in patients without retinal dystrophy. The conclusions were based on 72 previously reported cases and 29 new cases with the possible diagnosis of Joubert syndrome. Saraiva and Baraitser (1992) suggested that the form of Joubert syndrome with retinal dystrophy could be called Dekaban syndrome, since it was first reported by Dekaban (1969). </p><p>Ivarsson et al. (1993) described a boy with manifestations of Joubert syndrome, retinal dystrophy (which they referred to as Leber congenital amaurosis), and multicystic kidneys. </p><p>Lewis et al. (1994) described 2 unrelated children with Joubert syndrome and hepatosplenomegaly. On histopathologic examination, both had congenital hepatic fibrosis. Both were also found to have congenital medullary cystic disease of the kidneys. Lewis et al. (1994) suggested that Joubert syndrome is a member of a spectrum of congenital malformation syndromes involving the CNS, eye, liver, and kidneys. The authors noted phenotypic overlap with COACH syndrome. </p><p>Kumada et al. (2004) reported pathologic features of renal disease in 5 patients with Arima syndrome: 2 patients had been reported by Matsuzaka et al. (1986); 1 patient had been reported by Arima et al. (1971); and 1 patient, born of consanguineous parents, had been reported by Koya et al. (1973). Every patient developed end-stage renal disease during childhood, characterized primarily by renal sodium wasting and disturbances of urine concentration. The patients also had polyuria, polydipsia, anemia, and growth retardation. Grossly, the kidneys were small with granular capsular surfaces, and contained multiple cysts of various sizes throughout the organ. Histologic examination showed interstitial fibrosis, mononuclear cell infiltration, tubular atrophy with cyst formation, and accumulation of PAS-positive material around the tubules consistent with a thickened tubular basement membrane. Tubular cysts were predominantly located at the corticomedullary areas. Anatomical abnormalities of the ureters and bladder were not observed. Kumada et al. (2004) suggested that the renal disease in their patients with Arima syndrome was most consistent with nephronophthisis, and not cystic dysplastic kidney or infantile polycystic kidney. They emphasized the phenotypic overlap and diagnostic difficulties among Arima syndrome, Joubert syndrome, COACH syndrome, and some forms of familial nephronophthisis. </p>
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<p><strong><em>Differential Diagnosis</em></strong></p><p>
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Di Rocco (1993) suggested that 'Joubert syndrome with retinal dystrophy and renal cysts' may represent the carbohydrate-deficient glycoprotein syndrome (CDG; 212065). She further suggested that the CDG syndrome must be considered in any patient with cerebellar dysplasia and renal or liver abnormalities. </p><p><strong><em>Prenatal Diagnosis</em></strong></p><p>
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In a subsequent pregnancy of the mother of a child with Joubert syndrome and multicystic kidneys, Ivarsson et al. (1993) made the prenatal diagnosis on the basis of ultrasound, which demonstrated an occipital meningocele and multiple cysts of both kidneys, at 17 weeks of gestation. </p>
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<strong>See Also:</strong>
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Laverda et al. (1984)
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<strong>REFERENCES</strong>
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Arima, M., Ono, K., Hisada, K., Handa, T.
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<strong>A familial syndrome of maldevelopment of the brain, polycystic kidneys, congenital tapetoretinal dysplasia with coloboma and unilateral ptosis.</strong>
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No To Hattatsu 3: 330-331, 1971. Note: Article in Japanese.
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Dekaban, A. S.
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<strong>Hereditary syndrome of congenital retinal blindness (Leber), polycystic kidneys and maldevelopment of the brain.</strong>
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Am. J. Ophthal. 68: 1029-1037, 1969.
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[PubMed: 5362879]
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[Full Text: https://doi.org/10.1016/0002-9394(69)93443-6]
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Di Rocco, M.
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<strong>On Saraiva and Baraitser and Joubert syndrome: a review. (Letter)</strong>
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Am. J. Med. Genet. 46: 732 only, 1993.
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[PubMed: 8362922]
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[Full Text: https://doi.org/10.1002/ajmg.1320460630]
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Ivarsson, S.-A., Bjerre, I., Brun, A., Ljungberg, O., Maly, E., Taylor, I.
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<strong>Joubert syndrome associated with Leber amaurosis and multicystic kidneys.</strong>
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Am. J. Med. Genet. 45: 542-547, 1993.
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[PubMed: 8456821]
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[Full Text: https://doi.org/10.1002/ajmg.1320450503]
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Koya, G., Shinohara, T., Morimatsu, Y., Miura, M.
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<strong>Congenital polycystic kidney syndrome--three cases with agenesis of cerebellar vermis and displacement of pyramidal tract among the brainstem.</strong>
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No To Hattatsu 5: 229-241, 1973.
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Kumada, S., Hayashi, M., Arima, K., Nakayama, H., Sugai, K., Sasaki, M., Kurata, K., Nagata, M.
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<strong>Renal disease in Arima syndrome is nephronophthisis as in other Joubert-related cerebello-oculo-renal syndromes.</strong>
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Am. J. Med. Genet. 131A: 71-76, 2004.
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[PubMed: 15384098]
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[Full Text: https://doi.org/10.1002/ajmg.a.30294]
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Laverda, A. M., Saia, O. S., Drigo, P., Danieli, E., Clementi, M., Tenconi, R.
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<strong>Choroidoretinal coloboma and Joubert syndrome: a nonrandom association.</strong>
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J. Pediat. 105: 282-284, 1984.
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[PubMed: 6747764]
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[Full Text: https://doi.org/10.1016/s0022-3476(84)80133-x]
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Lewis, S. M. E., Roberts, E. A., Marcon, M. A., Harvey, E., Phillips, M. J., Chuang, S. A., Buncic, J. R., Clarke, J. T. R.
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<strong>Joubert syndrome with congenital hepatic fibrosis: an entity in the spectrum of oculo-encephalo-hepato-renal disorders.</strong>
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Am. J. Med. Genet. 52: 419-426, 1994.
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[PubMed: 7538263]
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[Full Text: https://doi.org/10.1002/ajmg.1320520406]
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Lindhout, D., Barth, P. G., Valk, J., Boen-Tan, T. N.
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<strong>The Joubert syndrome associated with bilateral chorioretinal coloboma.</strong>
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Europ. J. Pediat. 134: 173-176, 1980.
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[PubMed: 7439204]
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[Full Text: https://doi.org/10.1007/BF01846041]
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Matsuzaka, T., Sakuragawa, N., Nakayama, H., Sugai, K., Kohno, Y., Arima, M.
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<strong>Cerebro-oculo-hepato-renal syndrome (Arima's syndrome): a distinct clinocopathological (sic) entity.</strong>
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J. Child Neurol. 1: 338-346, 1986.
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[PubMed: 3598133]
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[Full Text: https://doi.org/10.1177/088307388600100404]
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Pfeiffer, R. A.
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<strong>The Joubert syndrome associated with bilateral chorioretinal coloboma. (Letter)</strong>
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Europ. J. Pediat. 137: 101-102, 1981.
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Saraiva, J. M., Baraitser, M.
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<strong>Joubert syndrome: a review.</strong>
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Am. J. Med. Genet. 43: 726-731, 1992.
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[PubMed: 1341417]
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[Full Text: https://doi.org/10.1002/ajmg.1320430415]
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Cassandra L. Kniffin - reorganized : 1/20/2005<br>Cassandra L. Kniffin - updated : 1/4/2005<br>Victor A. McKusick - updated : 6/10/2004
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OMIM Donation:
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Dear OMIM User,
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To ensure long-term funding for the OMIM project, we have diversified
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our revenue stream. We are determined to keep this website freely
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accessible. Unfortunately, it is not free to produce. Expert curators
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review the literature and organize it to facilitate your work. Over 90%
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of the OMIM's operating expenses go to salary support for MD and PhD
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science writers and biocurators. Please join your colleagues by making a
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donation now and again in the future. Donations are an important
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component of our efforts to ensure long-term funding to provide you the
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information that you need at your fingertips.
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Thank you in advance for your generous support, <br />
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Ada Hamosh, MD, MPH <br />
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Scientific Director, OMIM <br />
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