Children with mutations in CHD5 display delayed acquisition of speech and delayed motor development (they start speaking and walking at a later time point in life). Significant limitations in both intellectual functioning and in adaptive behavior (intellectual disability) are also observed.
Behavioral problems such as autism or obsessive-compulsive disorder are frequent. Some children develop epilepsy, which is usually well controlled with antiepileptic drugs.
Clinical variability
The severity of CHD5-related disorders is variable from one patient to the other: some patients will be severely impaired while other will have milder clinical manifestations.
CHD5