Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
MONDO:0019375Megalencephaly-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.
Also known as: MPPH syndrome, megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus, megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome, megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
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