| Disease ID | Source | Name | Description |
| 301039 | OMIM | Intellectual developmental disorder, X-linked, syndromic, Hackman-Di Donato type (MRXSHD) | An X-linked recessive disorder characterized by impaired intellectual development, global developmental delay, hypotonia, joint contractures, behavioral abnormalities, Marfanoid habitus, scoliosis, and mildly dysmorphic facies. The disease is caused by variants affecting the gene represented in this entry. |