microcephaly type 3, primary, autosomal recessive

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microcephaly type 3, primary, autosomal recessive

An autosomal recessive primary microcephaly (OMIM:604804) 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 CDK5RAP2, which encodes a protein involved in neuronal differentiation and microtubule polymerisation.
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Furthermore, Oki has succeeded in making the industry's thinnest and smallest FRD ever, witht an MCPH3 package size of 2.