Ritscher-Schinzel syndrome 1

Definition

Any Ritscher-Schinzel syndrome in which the cause of the disease is a mutation in the WASHC5 gene.

Also known as Ritscher-Schinzel syndrome 1, Ritscher-Schinzel syndrome caused by mutation in WASHC5, Ritscher-Schinzel syndrome type 1, WASHC5 Ritscher-Schinzel syndrome — per MONDO

Also identified as

• DOID 0060571 per MONDO
• OMIM 220210 per MONDO
• UMLS C4551776 per MONDO