Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2

Definition

Any megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome in which the cause of the disease is a mutation in the AKT3 gene.

Also known as AKT3 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome, megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome type 2, megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome caused by mutation in AKT3 — per MONDO

Also identified as

• OMIM 615937 per MONDO
• UMLS C4014738 per MONDO