Microcephaly 17, Primary, Autosomal Recessive (MCPH17)

Microcephaly 17, Primary, Autosomal Recessive, also known as mcph17, is related to microcephaly 2, primary, autosomal recessive, with or without cortical malformations and isolated growth hormone deficiency. An important gene associated with Microcephaly 17, Primary, Autosomal Recessive is CIT (Citron Rho-Interacting Serine/Threonine Kinase), and among its related pathways/superpathways is Cell Cycle, Mitotic. Affiliated tissues include cortex and cerebellum, and related phenotypes are intellectual disability and global developmental delay