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Up to: Hereditary neurological disease · Hydrocephalus · PIK3CA-related overgrowth spectrum · Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes · Non-syndromic polydactyly
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.