microcephaly type 7, primary, autosomal recessive

An autosomal recessive primary microcephaly (OMIM:612703) 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 STIL, which encodes a cytoplasmic protein that regulates the mitotic spindle checkpoint, a regulatory pathway that monitors chromosome segregation during cell division to ensure the proper distribution of chromosomes to the daughter cells.

单词	microcephaly type 7, primary, autosomal recessive
释义	microcephaly type 7, primary, autosomal recessive microcephaly type 7, primary, autosomal recessive An autosomal recessive primary microcephaly (OMIM:612703) 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 STIL, which encodes a cytoplasmic protein that regulates the mitotic spindle checkpoint, a regulatory pathway that monitors chromosome segregation during cell division to ensure the proper distribution of chromosomes to the daughter cells.
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