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.
随便看	building unit building units and group titles act building user guide building ventilation building virtual private networks building void building volume building warrant building weathering building wiring building wiring standard building with wood building workers industrial union of australia building workplace essential skills online building works tender price index building your automatic money machine building your business build in my backyard build in (or into) build integrated photovoltaic build into build into (something) build issuance build it up build it yourself