microcephaly type 6, primary, autosomal recessive

An autosomal recessive primary microcephaly (OMIM:608393) 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 CENPJ, which encodes a centromere protein that plays a role in maintaining the structural integrity of centromeres and spindles.

单词	microcephaly type 6, primary, autosomal recessive
释义	microcephaly type 6, primary, autosomal recessive microcephaly type 6, primary, autosomal recessive An autosomal recessive primary microcephaly (OMIM:608393) 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 CENPJ, which encodes a centromere protein that plays a role in maintaining the structural integrity of centromeres and spindles.
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