MEGF8-related Carpenter syndrome

Definition

Any Carpenter syndrome in which the cause of the disease is a mutation in the MEGF8 gene.

Also known as Carpenter syndrome 2, Carpenter syndrome caused by mutation in MEGF8, Carpenter syndrome type 2, MEGF8 Carpenter syndrome — per MONDO

Also identified as

• DOID 0061099 per MONDO
• OMIM 614976 per MONDO
• UMLS C3554247 per MONDO