MENTAL RETARDATION, X-LINKED 14
General Information (adopted from Orphanet):
| Synonyms, Signs: |
MRX14 |
| Number of Symptoms | 6 |
| OrphanetNr: | |
| OMIM Id: |
300062
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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:0000053) | Macroorchidism | 18 / 7739 | ||||
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(HPO:0001999) | Abnormal facial shape | 169 / 7739 | ||||
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(HPO:0002342) | Intellectual disability, moderate | 37 / 7739 | ||||
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(HPO:0002465) | Poor speech | 31 / 7739 | ||||
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(HPO:0001250) | Seizures | 1245 / 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 | Gendrot et al. (1994) reported a French family in which 9 persons had moderate mental deficiency and poor speech in 3 generations. Some of the patients had facial dysmorphism, epilepsy, and macroorchidism. |