3M syndrome 3

Definition

Any 3-M syndrome in which the cause of the disease is a mutation in the CCDC8 gene.

Also known as 3-M syndrome 3, 3-M syndrome caused by mutation in CCDC8, 3M syndrome 3, CCDC8 3-M syndrome, three M syndrome 3, three M syndrome type 3 — per MONDO

Also identified as

• OMIM 614205 per MONDO
• UMLS C3280146 per MONDO