| Disease ID | Source | Name | Description |
| 300963 | OMIM | Ritscher-Schinzel syndrome 2 (RTSC2) | A form of Ritscher-Schinzel syndrome, a developmental malformation syndrome characterized by cerebellar brain malformations, congenital heart defects, and craniofacial abnormalities. RTSC2 is an X-linked recessive form characterized by intellectual disability associated with posterior fossa defects, cardiac malformations, and minor abnormalities of the face and distal extremities. The disease is caused by variants affecting the gene represented in this entry. |