Disease ID | Source | Name | Description |
300860 | OMIM | Mental retardation, X-linked, syndromic, Nascimento-type (MRXSN) | A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXSN features include dysmorphic facies, hirsutism, skin and nails abnormalities, obesity, speech anomalies and seizures. The disease is caused by variants affecting the gene represented in this entry. |