| Disease ID | Source | Name | Description |
| 301013 | OMIM | Mental retardation, X-linked 107 (MRX107) | A form of mental retardation, 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. The disease is caused by variants affecting the gene represented in this entry. The disease-causing mutation has been identified in one large family as a 2 base pair insertion in CXorf56 exon 2. This variant produces a premature stop codon, leading to nonsense-mediated mRNA decay. |