From: Molecular and phenotypic characteristics of Bardet-Biedl syndrome in Chinese patients
Features | Chinese Cohort(N = 20) | Spanish [19] Cohort(N = 52) | German [20] Cohort(N = 61) | Indian [21] Cohort(N = 64) |
---|---|---|---|---|
Age (mean ± SD, y) | 16.0 ± 9.08 | 39.6 ± 17.86a*** | NA | 13.4 ± 6.42 |
Age at diagnostic exam(mean ± SD, y) | 8.00 ± 7.22 | NA | 24.49 ± 12.30a*** | NA |
Gender (M/F) | 11/9 | 28/24b | 35/26b | 44/20b |
RP, n/N (%) | 19/20 (95) | 51/52 (98)c | 61/61 (100)c | 62/64(97)c |
OB, n/N (%) | 17/20 (85) | 44/50 (88)c | 48/61 (79)c | 57/64(89)c |
PD, n/N (%) | 19/20 (95) | 41/52 (79)c | 53/61 (87)c | 55/64(86)c |
CI, n/N (%) | 10/20 (50) | 29/49 (59)b | 17/61 (28)b | 42/64(66)b |
Gonad, n/N (%) | 15/20 (75) | 17/35 (49)b | 6/22(27.3)b** | 42/64(66)b |
RA, n/N (%) | 4/18 (22) | 12/36 (33)b | 18/61 (30)b | 10/64(16)c |
Development delay | 15/20(75) | 14/22(64)b | 21/61(34)b** | 31/64(48)b* |
Diabetes | 3/18(16.7) | 2/64(3)c | 5/61(8)c | 18/64(28)c |
Hearing disturbances | 0/19(0) | 9/52(17)c* | 2/61(3)c | 14/64(22)c* |
neurology | 3/20(15) | 14/22(63.6)b*** | 18/61(29.5)b | 29/64(45.3)b* |