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.
随便看	institution for the protection of fictional characters institution gang investigator institution gouvernementale exploitée par un entrepreneur institution identification codes institution level support team institution nationale de prévoyance du commerce et de l'artisanat institution of agricultural engineers institution of analysts and programmers institution of automotive engineers institution of british telecommunications engineers institution of certificated mechanical and electrical engineers institution of charity fundraising managers institution of chemical engineers institution of civil engineering surveyors institution of civil engineers institution of commercial and business agents institution of diagnostic engineers institution of diesel and gas turbine engineers institution of electrical and electronics engineers pakistan institution of electrical designers institution of electrical & electronic incorporated engineers institution of electrical engineers institution of engineering and mining surveyors australia institution of engineering and technology institution of engineering and technology northern ireland