Hypoplastic left heart syndrome 1

Definition

Any hypoplastic left heart syndrome in which the cause of the disease is a mutation in the GJA1 gene.

Also known as GJA1 hypoplastic left heart syndrome, hypoplastic left heart syndrome 1, hypoplastic left heart syndrome caused by mutation in GJA1, hypoplastic left heart syndrome type 1 — per MONDO

Also identified as

• OMIM 241550 per MONDO
• UMLS C4551854 per MONDO