3M syndrome 1

Definition

Any 3-M syndrome in which the cause of the disease is a mutation in the CUL7 gene.

Also known as 3-M syndrome 1, 3-M syndrome caused by mutation in CUL7, CUL7 3-M syndrome, three M syndrome 1, three M syndrome type 1 — per MONDO

Also identified as

• OMIM 273750 per MONDO
• UMLS C2678312 per MONDO