Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
A disease characterized by microcephaly, moderate to severe mental retardation, and various type of cortical malformations in most patients. Microcephaly is defined as a head circumference more than 3 standard deviations below the age-related mean. Cortical malformations include pachygyria with cortical thickening, microgyria, lissencephaly, hypoplasia of the corpus callosum, schizencephaly. All affected individuals have delayed psychomotor development. Some patients have seizures.
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