Blepharocheilodontic syndrome 2

Definition

Any blepharo-cheilo-odontic syndrome in which the cause of the disease is a mutation in the CTNND1 gene.

Also known as blepharo-cheilo-odontic syndrome caused by mutation in CTNND1, CTNND1 blepharo-cheilo-odontic syndrome — per MONDO

Also identified as

• DOID 0080346 per MONDO
• OMIM 617681 per MONDO
• UMLS C4540127 per MONDO