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GENATLAS PHENOTYPE
last update : 16-11-2017
Symbol JBTS32
Location 10q24.32
Name Joubert syndrome 32
Corresponding gene SUFU
Main clinical features
  • developmental disorder characterized by delayed psychomotor development, intellectual disability, dysmorphic facial features, and postaxial polydactyly
  • brain imaging shows cerebellar abnormalities consistent with the molar tooth sign (MTS)
  • Genetic determination autosomal recessive
    Function/system disorder eye
    mental retardation
    osteo-articular
    neurology
    Type disease
    Remark(s)