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last update : 07-12-2011
Symbol JBTS13
Location 12q24.11
Name Joubert syndrome 13
Corresponding gene TCTN1
Main clinical features
  • cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices associated to ataxia, hypotonia, psychomotor developmental delay, oculomotor disorders (such as oculomotor apraxia, nystagmus, Leber congenital amaurosis), cystic dysplastic kidneys or juvenile nephronophthisis, and changes in the respiratory rythm that appear mainly in the neonatal period
  • Genetic determination autosomal recessive
    Function/system disorder eye
    kidney and urinary tract
    Type disease