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GENATLAS PHENOTYPE
last update : 12-01-2011
Symbol CKS
Location Xq28
Name CK syndrome
Corresponding gene NSDHL
Main clinical features
  • intellectual disability syndrome characterized by dysmorphism, cortical brain malformations, an asthenic build, and mental retardation
  • mild to severe cognitive impairment, seizures beginning in infancy, microcephaly, cerebral cortical malformations, and a thin body habitus
  • cells and cerebrospinal fluid have increased methyl sterol levels
  • Genetic determination sex linked
    Function/system disorder mental retardation
    neurology
    metabolism/lipoprotein-lipid
    Type disease
    Remark(s)