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Table 1:

Clinical and genetic findings in 6 patients with Joubert syndrome (JS)

Patient1234*5*6
Age (y)272626181610
OriginSwissSwissSwissTurkishTurkishSwiss
Parental consanguinity++++
    CNSAT, OMA, CIAT, OMA, CIAT, OMA, CIAT, OMA, CIAT, OMAb, CIAT, OMA, CI
Features
    OcularPRnornorPRPRnor
    KidneynornornorNPHPNPHPnor
Genetic formJBTS3not knownnot knownJBTS5JBTS5JBTS1
  • Note:— + indicates present; −, absent; AT, ataxia; OMA, ocular motor apraxia; CI, cognitive impairment; PR, pigmentary retinopathy; NPHP, nephronophthisis; nor, normal.

  • * Siblings.