Demographic, clinical characteristics and diagnostic rate of patients
| Characteristics | Individuals (n (%)) | Diagnosed individuals (n (%, 95% CI)) | SNV alone (n (%)) | CNV alone (n (%)) | AH (n (%)) | Dual diagnosis (n (%)) |
| Age (years) | ||||||
| (1~2) | 437 (40.09) | 199/437 (45.54, 40.80 to 50.34) | 129 (29.52) | 66 (15.10) | 1 (0.23) | 3 (0.69) |
| (2~6) | 526 (48.26) | 198/526 (37.64, 33.49 to 41.94) | 147 (27.95) | 48 (9.13) | 3 (0.57) | 0 |
| (6~12) | 110 (10.09) | 46/110 (41.82, 32.48 to 51.61) | 32 (29.09) | 13 (11.82) | 1 (0.91) | 0 |
| >12 | 17 (1.56) | 8/17 (47.06, 22.98 to 72.19) | 4 (23.53) | 4 (23.53) | 0 | 0 |
| Total | 1090 (100) | 451/1090 (41.38, 38.43 to 44.27) | 312 (28.62) | 131 (12.02) | 5 (0.46) | 3 (0.28) |
| Gender | ||||||
| Male | 661 (60.64) | 242/661 (36.61, 32.92 to 40.41) | 178 (26.93) | 59 (8.93) | 4 (0.61) | 1 (0.15) |
| Female | 429 (39.36) | 209/429 (48.72, 43.89 to 53.56) | 134 (31.24) | 72 (16.78) | 1 (0.23) | 2 (0.47) |
| Classification | ||||||
| Isolated DD | 348 (31.93) | 139 (39.94, 34.76 to 45.30) | 85 (24.43) | 49 (14.08) | 2 (0.57) | 3 (0.86) |
| Syndromic DD | 742 (68.07) | 312 (42.05, 38.47 to 45.69) | 227 (30.59) | 82 (11.05) | 3 (0.40) | 0 |
| Subgroups of syndromic DD | ||||||
| DD+malformations | 316 (42.59) | 159 (50.32, 44.67 to 55.96) | 96 (30.38) | 61 (19.30) | 2 (0.63) | 0 |
| DD+epilepsy | 289 (38.95) | 123 (42.56, 36.79 to 48.49) | 106 (36.68) | 17 (5.88) | 0 | 0 |
| DD+behavioural troubles | 165 (22.24) | 36 (21.82, 15.77 to 28.90) | 22 (13.33) | 14 (8.48) | 0 | 0 |
| DD+metabolic disorder | 122 (16.44) | 57 (46.72, 37.64 to 55.97) | 45 (36.89) | 10 (8.20) | 2 (1.64) | 0 |
AH referred to apparently homozygous variant caused by overlapped diagnostic CNV and SNV.
Dual diagnosis referred to patients who identified both diagnostic CNV and diagnostic SNV and had a dual diagnosis.
DD, developmental disorder; SNV, single nucleotide variations.