Table 1.

Comparison of patients with Joubert syndrome with and without kidney disease

Kidney DiseaseNo Kidney Disease
No. of patients29/97 (30%)68/97 (70%)
Age, yr, mean±SD9.6±6.58.8±8.0
Females, males11, 1830, 38
Genea
 TMEM671111
 CEP29061
 AHI133
 CC2D2A28
 INPP5E22
 NPHP110
 RPGRIP1L10
 TMEM21611
 TMEM23710
 C5orf42015
 KIAA058606
 MKS105
 TMEM23103
 CSPP102
 KIAA075302
 OFD102
 CELSR201
 KIF701
 B9D101
 Unknown14
Polydactyly2/29 (7%)10/68 (15%)
Coloboma13/29 (45%)17/68 (25%)
Retinal degeneration11/29 (38%)16/68 (24%)
Liver involvement18/29 (62%)24/68 (35%)
  • a Number of patients with and without kidney disease.