Table 2 Behavioural phenotype in individuals with a (likely) pathogenic variant in CHD8.
Positive | Total evaluated | Percentage | |
|---|---|---|---|
Behavioural problems (HP:0000708) | 84 | 95 | 88 |
Autism spectrum disorder or autistic behaviour (HP:0000729) | 71 | 94 | 76 |
Short attention span (HP:0000736) | 30 | 94 | 32 |
Abnormal social behaviour (HP:0012433) | 29 | 94 | 31 |
Sleep disturbance (HP:0002360) | 27 | 94 | 29 |
Impaired social interactions (HP:0000735) | 26 | 95 | 27 |
Stereotypy (HP:0000733) | 20 | 94 | 21 |
Insomnia (HP:0100785) | 19 | 95 | 20 |
Abnormal aggressive, impulsive or violent behaviour (HP:0006919) | 16 | 94 | 17 |
Impairment in personality functioning (HP:0031466) | 16 | 94 | 17 |
Poor eye contact (HP:0000817) | 15 | 94 | 16 |
Repetitive compulsive behaviour (HP:0008762) | 13 | 94 | 14 |
Irritability (HP:0000737) | 5 | 94 | 5 |
Hyperactivity (HP:0000752) | 4 | 94 | 4 |
Psychosis/Schizophrenia (HP:0000709/HP:0100753) | 3 | 94 | 3 |
Excessive daytime somnolence (HP:0001262) | 1 | 94 | 1 |
Inflexible adherence to routines or rituals (HP:0000732) | 1 | 94 | 1 |
Obsessive-compulsive behaviour (HP:0000722) | 1 | 94 | 1 |
