Table 2.
Significant associations between clinical features and sex or variant group.
| Feature | Association | p valuea | |
|---|---|---|---|
| Females | Males | ||
| De novo variants (n[%]) | 35 (92.1) | 15 (62.5) | 0.007 |
| Gestation (weeks, m[IQR]) | 39 (38; 39) | 36 (35.3; 38.5) | 0.003 |
| Birth length SD (m[IQR]) | −0.01 (−0.41; 1.24) | −1.07 (−1.75; −0.53) | 0.013 |
| Height SD (m[IQR])a | −1.2 (−2.67; −0.77) | −2.18 (−3.76; −1.94) | 0.005 |
| Independent walking (n[%]) | 21 (95.5) | 10 (50) | 0.001 |
| Developed speech (n[%]) | 20 (90.9) | 10 (50) | 0.003 |
| ID severity | 0.021 | ||
| Mild (n[%]) | 7 (33.3) | 2 (11.1) | |
| Moderate (n[%]) | 7 (33.3) | 2 (11.1) | |
| Severe (n[%]) | 7 (33.3) | 14 (77.8) | |
| Behavioral problems (n[%]) | 18 (75) | 6 (35.3) | 0.011 |
| Ectodermal anomalies (n[%]) | 31 (100) | 14 (82.4) | 0.039 |
| Gastrointestinal problems (n[%]) | 18 (62.1) | 22 (88) | 0.03 |
| PAV | PTV | ||
| De novo variants (n[%]) | 8 (57.1) | 42 (87.5) | 0.02 |
| Age at last examination (years, m[IQR]) | 12 (6.5; 14.08) | 6.35 (1.94; 11.02) | 0.043 |
| Birth length SD (m[IQR]) | −1.56 (−1.86; −0.9) | −0.29 (−0.98; 0.93) | 0.034 |
ID intellectual disability, IQR interquartile range, m median, PAV protein-altering variant, PTV protein-truncating variant.
aAt last examination.