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GENATLAS PHENOTYPE
last update : 26-10-2018
Symbol JBTS33
Location 13q22.1
Name Joubert syndrome 33
Corresponding gene PIBF1
Main clinical features
  • characterized by hypotonia, ataxia, cognitive impairment, and a distinctive brain malformation, the 'molar tooth sign.
  • in addition, retinal dystrophy, cystic kidney disease, liver fibrosis, and polydactyly occur in a subset of patients
  • Genetic determination autosomal recessive
    Function/system disorder eye
    neurology
    kidney and urinary tract
    Type disease
    Remark(s)