MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED
General Information (adopted from Orphanet):
| Synonyms, Signs: |
MENTAL RETARDATION, X-LINKED 87 MENTAL RETARDATION, X-LINKED 76 MENTAL RETARDATION, X-LINKED 29 MRXARX MENTAL RETARDATION, X-LINKED 33 MENTAL RETARDATION, X-LINKED 32 MENTAL RETARDATION, X-LINKED 38 MENTAL RETARDATION, X-LINKED 43 MENTAL RETARDATION, X-LINKED 54 MRX76 MRX54 MRX43 MRX87 MRX29 MRX38 MRX33 MRX32 |
| Number of Symptoms | 2 |
| OrphanetNr: | |
| OMIM Id: |
300419
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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:
| Prevalence: | No data available. |
| Inheritance: |
X-linked recessive inheritance [Omim] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
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(HPO:0001419) | X-linked recessive inheritance | 189 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Description: (OMIM) |
ARX-related mental retardation is a form of nonsyndromic X-linked mental retardation. It is part of a phenotypic spectrum of disorders caused by mutation in the ARX gene comprising a nearly continuous series of developmental disorders ranging from lissencephaly ... |
| Clinical Description OMIM |
Hamel et al. (1999) described a 4-generation family (MRX43) segregating X-linked mental retardation. Affected members had moderate to profound nonprogressive mental retardation recognized in early childhood. Only 1 patient was able to read and write. Characteristic features included ... |
| Molecular genetics OMIM |
In the MRX43 family reported by Hamel et al. (1999) and in the MRX76 family reported by Kleefstra et al. (2002), Bienvenu et al. (2002) identified the same 24-bp in-frame duplication (300382.0002) in the ARX gene. ... |