Disease ID | Source | Name | Description |
300923 | OMIM | Mental retardation, X-linked 100 (MRX100) | A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations. MRX100 clinical features include intellectual disability, epilepsy, microcephaly and cortical malformations. The disease may be caused by variants affecting the gene represented in this entry. |