Ritscher-Schinzel syndrome 2

Definition

Any Ritscher-Schinzel syndrome in which the cause of the disease is a mutation in the CCDC22 gene.

Also known as CCDC22 Ritscher-Schinzel syndrome, Ritscher-Schinzel syndrome 2, Ritscher-Schinzel syndrome 2, X-linked recessive, Ritscher-Schinzel syndrome caused by mutation in CCDC22, Ritscher-Schinzel syndrome type 2, RTSC2 — per MONDO

Also identified as

• DOID 0060572 per MONDO
• OMIM 300963 per MONDO
• UMLS C4225419 per MONDO