MENTAL RETARDATION, AUTOSOMAL RECESSIVE 47
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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5
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OrphanetNr:
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OMIM Id:
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616193
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ICD-10:
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UMLs:
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MeSH:
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MedDRA:
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Snomed:
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Prevalence, inheritance and age of onset:
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Prevalence:
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No data available.
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Inheritance:
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Age of onset:
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Disease classification (adopted from Orphanet):
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Parent Diseases:
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No data available.
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1
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(HPO:0001249)
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Intellectual disability |
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1089 / 7739
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2
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(HPO:0002465)
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Poor speech |
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31 / 7739
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3
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(HPO:0002384)
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Focal seizures with impairment of consciousness or awareness |
rare [HPO:skoehler]
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17 / 7739
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4
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(HPO:0001263)
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Global developmental delay |
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853 / 7739
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5
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(HPO:0001252)
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Muscular hypotonia |
rare [HPO:skoehler]
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990 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |