Meckel syndrome, type 6

Definition

Any Meckel syndrome in which the cause of the disease is a mutation in the CC2D2A gene.

Also known as CC2D2A Meckel syndrome, Meckel syndrome caused by mutation in CC2D2A, Meckel syndrome, type 6, MKS6 — per MONDO

Also identified as

• DOID 0070120 per MONDO
• MESH C567365 per MONDO
• OMIM 612284 per MONDO
• UMLS C2676790 per MONDO