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GENATLAS PHENOTYPE
last update : 09-12-2015
Symbol JBTS25
Location 1p36.31
Name Joubert syndrome 25
Corresponding gene CEP104
Main clinical features distinctive mid-hindbrain and cerebellar malformation, oculomotor apraxia, irregular breathing, developmental delay, and ataxia
  • malformation involving the brainstem and cerebellum and consisting of cerebellar vermis hypoplasia or aplasia, horizontal elongated cerebellar peduncles, and a deep interpeduncular fossa; together, these take on the pathognomonic appearance of a molar tooth
  • Genetic determination autosomal recessive
    Function/system disorder eye
    neurology
    Type disease
    Remark(s)