microcephaly type 5, primary, autosomal recessive

microcephaly type 5, primary, autosomal recessive

An autosomal recessive primary microcephaly (OMIM:608716) 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 ASPM, which encodes a protein required for normal mitotic spindle function in embryonic neuroblasts.
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