Home Page
References OMIM Gene GeneReviews HGMD HGNC
last update : 23-08-2017
Symbol JBTS10
Location Xp22.2
Name Joubert syndrome 10
Corresponding gene OFD1
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, mental retardation, 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 sex linked
    Function/system disorder kidney and urinary tract
    Type disease
    Remark(s) mutations in exon 21 of the OFD1 (Coene 2009)