Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3

Definition

Any megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome in which the cause of the disease is a mutation in the CCND2 gene.

Also known as CCND2 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome, megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome type 3, megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome caused by mutation in CCND2 — per MONDO

Also identified as

• OMIM 615938 per MONDO
• UMLS C4014742 per MONDO