Table 2 Characteristics of patients according to missense and loss-of-function
Features | Missense patients N = 24 (%) | PTV patients N = 84 (%) | p-value | Significance |
|---|---|---|---|---|
Mild intellectual disability | 0/11 (0.0) | 3/45 (6.7) | 0.390 | No |
Moderate intellectual disability | 5/11 (45.5) | 34/45 (75.6) | 0.055 | No |
Severe intellectual disability | 6/11 (54.6) | 8/45 (17.8) | 0.012 | Yes |
Unacquired walking after 2 years of age | 6/16 (37.5) | 6/61 (9.8) | 0.014 | Yes |
Age of walking achievement (months) | 28.4 ± 4.1 | 27.2 ± 7.0 | 0.210 | No |
Absent speech | 11/16 (68.8) | 19/56 (33.9) | 0.012 | Yes |
Autism | 9/16 (56.3) | 16/49 (32.7) | 0.092 | No |
Seizure | 8/15 (53.3) | 8/52 (15.4) | 0.005 | Yes |
Gait ataxia | 4/8 (50.0) | 16/31 (51.6) | 1.000 | No |
Abnormal brain imaging | 12/17 (70.6) | 27/46 (58.7) | 0.388 | No |
Hypotonia | 14/17 (82.4) | 51/57 (89.5) | 0.420 | No |
Visual abnormality | 12/13 (92.3) | 30/33 (90.9) | 0.880 | No |
Abnormality of cardiovascular system morphology | 9/18 (50.0) | 13/60 (21.7) | 0.019 | Yes |
Bulbous nose | 8/11 (72.7) | 39/48 (81.3) | 0.680 | No |
Up-slanted palpebral fissure | 8/13 (61.5) | 24/50 (48.0) | 0.384 | No |
Open mouth | 10/13 (76.9) | 37/42 (88.1) | 0.38 | No |