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GENATLAS PHENOTYPE
last update : 16-09-2019
Symbol MCPH26
Location Xp11.23
Name microcephaly 26 primary
Corresponding gene GPKOW
Main clinical features
  • congenital microcephaly, severe and intrauterine growth restriction (IUGR), sex linked and male lethal
  • Genetic determination sex linked
    Function/system disorder neurology
    Type disease
    Remark(s) . when GPKOW is disrupted, leads to a severe, male-lethal phenotype characterised by microcephaly and IUGR (PMID: 28612833))