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.

单词	microcephaly type 3, primary, autosomal recessive
释义	microcephaly type 3, primary, autosomal recessive 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.
随便看	szb szba szbi szbl szbp szbw szc szcc szco szczecin szczecinek szczecin, poland szczecinski szczecin wojewodztwo szczecin województwo szczepanski, jan szd szdg sz (disambiguation) szdm szdp szdr szds szdsz sze