Table 2.
Brief description of phenotypic presentation of 15 patients with CHD8 truncating SNVs.
| Patient | 12714.p1 | 13986.p1 | Nij023486 | APP_109580-100 | 11654.p1 | 13844.p1 | 14016.p1 | Troina2659 | 12991.p1 | 12752.p1 | Troina2037 | Nij-010878 | 14233.p1 | 14406.p1 | Nij07-06646 | Observed N (% of Sample) |
| Sex | M | M | F | M | F | M | M | M | M | F | F | M | M | M | M | |
| Age at Testing (years) | 4 | 5 | 15 | 6 | 12 | 8 | 8 | 13 | 16 | 4 | 41 | 11 | 16 | 13 | 17 | |
| Macrocephaly | − | + | + | + | + | + | + | + | + | + | + | − | + | − | + | 12 (80%) |
| Prominent Supraorbital Ridge | u | u | + | − | + | u | + | + | + | u | + | − | u | u | + | 7 (47%) |
| Hypertelorism | u | u | + | + | + | u | + | − | + | u | + | − | u | u | − | 6 (40%) |
| Down Slanted Palpebral Fissures | u | u | + | − | + | u | + | + | − | u | + | − | u | u | + | 6 (40%) |
| Flat Feet | u | u | − | − | − | u | − | − | + | u | − | − | u | u | + | 2 (13%) |
| Tall | + | + | + | + | + | + | + | + | − | u | − | + | + | + | + | 12 (80%) |
| Overweight | − | − | − | − | − | − | − | − | u | + | + | − | + | − | 3 (20%) | |
| ASD | + | + | + | + | + | + | + | + | + | + | − | − | + | + | + | 13 (87%) |
| Intellectual Disability | − | + | + | + | + | + | − | + | + | − | + | − | + | − | − | 9 (60%) |
| Attentional Problems | − | − | + | + | + | − | − | − | + | + | + | + | + | + | − | 9 (60%) |
| Anxiety Problems | + | − | − | − | − | − | + | − | + | + | − | − | − | − | − | 4 (27%) |
| Seizures | − | − | − | − | + | − | + | − | + | − | − | − | − | − | − | 3 (20%) |
| Regression | + | − | + | + | + | + | − | + | − | − | − | − | + | − | − | 7 (47%) |
| GI Problems | + | − | + | + | + | + | + | + | + | + | + | − | + | − | + | 12 (80%) |
| Sleep Problems | − | + | + | + | + | − | + | − | + | + | − | − | + | + | + | 10 (67%) |
| C-Section | − | − | − | − | + | − | − | + | + | + | − | − | − | − | + | 5 (33%) |
| Birth Induction/Augmentation | + | + | − | − | + | − | + | − | + | − | − | − | − | + | − | 6 (40%) |
KEY: + = present; − = absent; u = unknown. NOTE: Detailed phenotypic data is outlined for each patient in the above domains in Table S5.