Table 1:

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

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.