Cerebroretinal microangiopathy with calcifications and cysts 1

Definition

Any Coats plus syndrome in which the cause of the disease is a mutation in the CTC1 gene.

Also known as cerebroretinal microangiopathy with calcifications and cysts 1, Coats plus syndrome caused by mutation in CTC1, CTC1 Coats plus syndrome — per MONDO

Also identified as

• OMIM 612199 per MONDO
• UMLS C4552029 per MONDO