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GENATLAS PHENOTYPE
last update : 23-08-2017
Symbol JBTS30
Location 1q37.1
Name Joubert syndrome 30
Corresponding gene ARMC9
Main clinical features
  • hypotonia, ataxia, abnormal eye movements, and variable cognitive impairment, delayed development and developmental disability, most severely affecting motor and speech, as well as abnormal eye movements, often with ptosis; in any cases retinal dystrophy, postaxial polydactyly, and seizures
  • brain imaging showed the molar tooth sign in all patients, as well as dysplasia of the superior cerebellar folia
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    osteo-articular
    eye
    kidney and urinary tract
    Type disease
    Remark(s)