Cerebroretinal microangiopathy with calcifications and cysts 2

Definition

Any Coats plus syndrome in which the cause of the disease is a mutation in the STN1 gene.

Also known as cerebroretinal microangiopathy with calcifications and cysts 2, cerebroretinal microangiopathy with calcifications and cysts type 2, Coats plus syndrome caused by mutation in STN1, STN1 Coats plus syndrome — per MONDO

Also identified as

• OMIM 617341 per MONDO
• UMLS C4479220 per MONDO