Meckel syndrome, type 8

Definition

Any Meckel syndrome in which the cause of the disease is a mutation in the TCTN2 gene.

Also known as Meckel syndrome caused by mutation in TCTN2, Meckel syndrome, type 8, MKS8, TCTN2 Meckel syndrome — per MONDO

Also identified as

• DOID 0070122 per MONDO
• OMIM 613885 per MONDO
• UMLS C3836857 per MONDO