MENTAL RETARDATION, X-LINKED 73
General Information (adopted from Orphanet):
| Synonyms, Signs: |
MRX73 |
| Number of Symptoms | 2 |
| OrphanetNr: | |
| OMIM Id: |
300355
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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: |
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| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0001256) | Intellectual disability, mild | 141 / 7739 | ||||
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(HPO:0001417) | X-linked inheritance | 173 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM | Martinez et al. (2001) reported a 4-generation family with nonspecific mental retardation segregating in an X-linked fashion. |
| Molecular genetics OMIM |
In a family with nonsyndromic mental retardation mapping to Xp22.2, Martinez et al. (2001) performed direct sequencing of the RSK2 gene (300075) but found no causal mutation. They concluded that another unidentified gene for X-linked mental retardation is ... |