microcephaly type 1, primary, autosomal recessive

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microcephaly type 1, primary, autosomal recessive

An autosomal recessive primary microcephaly (OMIM:251200) characterised by a disproportionately small brain and cerebral cortex, with a well-preserved gyral pattern and no major defects in cortical architecture. Microcephaly is defined by a head circumference ≥ 3 standard deviations below the age-related mean; primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits.
 
Molecular pathology
Caused by defects of MCPH1, which encodes a DNA damage response protein that may play a role in G2/M checkpoint arrest.