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GENATLAS PHENOTYPE
last update : 24-08-2017
Symbol JBTS29
Location 17p13.1
Name Joubert syndrome 29
Corresponding gene TMEM107
Main clinical features
  • delayed psychomotor development, intellectual disability, ataxia, oculomotor apraxia, retinopathy, liver involvement, and cerebellar hypoplasia with the molar tooth sign on brain imaging
  • Genetic determination
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    Function/system disorder
    Type disease
    Remark(s)