Meckel syndrome, type 4

Definition

Any Meckel syndrome in which the cause of the disease is a mutation in the CEP290 gene.

Also known as CEP290 Meckel syndrome, Meckel syndrome caused by mutation in CEP290, Meckel syndrome, type 4, Meckel-Gruber syndrome, type 4, MKS4 — per MONDO

Also identified as

• DOID 0070118 per MONDO
• OMIM 611134 per MONDO
• UMLS C1970161 per MONDO