megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome is characterized by megalencephaly, polymicrogyria, and hydrocephalus with variable polydactyly. It has been described in six unrelated patients. Intellectual deficit or slow development is also present. The mode of inheritance of this syndrome is unknown since all cases were sporadic.
MONDO:0001150
hydrocephalus
is_a
MONDO:0011348
non-syndromic polydactyly
is_a
MONDO:0100283
overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
is_a
MONDO:0100545
hereditary neurological disease
is_a
MONDO:1040002
PIK3CA-related overgrowth spectrum
is_a
MPPH syndrome
exact
megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus
related
megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome
related
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
related