What health implications may be associated with a change in one of the copies of the DEAF1 gene?
A genetic change in the DEAF1 gene (also called a mutation or a pathogenic variant) has been linked to developmental delay/intellectual disability (ID) with severe speech delay and severe behavioral problems (such as autism and self-injurious behavior) among the affected individuals.
Other medical problems were decreased muscle tone (hypotonia), an abnormal walking pattern, sleeping problems, seizures and brain abnormalities. Recurrent infections and gastrointestinal problems (such as feeding problems and gastroesophageal reflux) were also common.
Some children may have recognizable facial characteristics (such as thin and/or fair hair, straight eyebrows, full nasal tip, cupid’s bow in the upper lip, full lower lip and prominent chin), fetal finger pads, fusion of the second and third toes (syndactyly) and pes planus.