| Disease ID | Source | Name | Description |
| 617159 | OMIM | Sifrim-Hitz-Weiss syndrome (SIHIWES) | An autosomal dominant syndrome characterized by mental retardation, variable congenital defects affecting cardiac, skeletal, and urogenital systems. Short stature, macrocephaly, hearing impairment, and facial dysmorphism are present in some patients. The disease is caused by variants affecting the gene represented in this entry. |