MENTAL RETARDATION, X-LINKED 95
General Information (adopted from Orphanet):
| Synonyms, Signs: |
MRX95 |
| Number of Symptoms | 3 |
| OrphanetNr: | |
| OMIM Id: |
300716
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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:0001249) | Intellectual disability | 18455129 | IBIS | 1089 / 7739 | ||
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(HPO:0000750) | Delayed speech and language development | 18455129 | IBIS | 197 / 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 |
Molinari et al. (2008) reported an Australian family with nonsyndromic X-linked mental retardation. Of 5 sibs, there was 1 healthy girl, 2 girls with mild mental retardation, and 2 boys with severe mental retardation. The 2 affected males ... |
| Molecular genetics OMIM | In affected members of a family with MRX95, Molinari et al. (2008) identified a mutation in the MAGT1 gene (300715.0001). |