microcephaly, primary, type 2

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microcephaly, primary, type 2

An autosomal recessive condition (OMIM:604317) characterised by microcephaly (a head circumference ≥ 3 standard deviations below the age-related mean), moderate to severe mental retardation, delayed psychomotor development, usually cortical malformation (e.g., pachygyria with cortical thickening), microgyria, lissencephaly, hypoplasia of corpus callosum, schizencephaly, and often accompanied by seizures.

Molecular pathology
Defects in WDR62 on chromosome 19q13.12, which encodes a protein required for the development of the cerebral cortex, cause microcephaly primary type 2.
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