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References OMIM Gene GeneReviews HGMD HGNC
last update : 27-01-2009
Symbol JBTS2
Location 11q12.2
HGNC id 20888
Name Joubert syndrome 2
Other name(s) cerebellooculorenal syndrome 2
Corresponding gene TMEM216
Other symbol(s) CORS2
Main clinical features
  • form of Joubert syndrome that includes retinal dysplasia and cystic dysplastic kidneys
  • 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
    mental retardation
    Type disease