megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
Any megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome in which the cause of the disease is a mutation in the PIK3R2 gene.
MONDO:0019375
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
is_a
MONDO:1040004
PIK3R2-related overgrowth spectrum
is_a
MPPH1
related
PIK3R2 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
exact
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
exact
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome type 1
exact
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome caused by mutation in PIK3R2
exact