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Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
A syndrome that 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.
ORPHA:83473Classification level: Disorder
- Clinical genetics review
- English (2016)