Disease ID | Source | Name | Description |
300261 | OMIM | Intellectual developmental disorder, X-linked, syndromic, Armfield type (MRXSA) | An X-linked recessive disorder characterized by global developmental delay with impaired intellectual development, walking difficulties and poor or absent speech. Affected individuals display a distinctive phenotype characterized by postnatal growth retardation, variable head circumference with a prominent forehead and dysmorphic facial features, ocular abnormalities, and seizures. The disease is caused by variants affecting the gene represented in this entry. |