1naresh
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Patient 1 2 3 4* 5* 6 Age (y) 27 26 26 18 16 10 Origin Swiss Swiss Swiss Turkish Turkish Swiss Parental consanguinity + − − + + + CNS AT, OMA, CI AT, OMA, CI AT, OMA, CI AT, OMA, CI AT, OMAb, CI AT, OMA, CI Features Ocular PR nor nor PR PR nor Kidney nor nor nor NPHP NPHP nor Genetic form JBTS3 not known not known JBTS5 JBTS5 JBTS1
Note:— + indicates present; −, absent; AT, ataxia; OMA, ocular motor apraxia; CI, cognitive impairment; PR, pigmentary retinopathy; NPHP, nephronophthisis; nor, normal.
* Siblings.