What health implications may be associated with a change in both copies of the DEAF1 gene?
A change occurring in both copies of the DEAF1 gene has been linked to:
- decreased muscle tone (hypotonia)
- intellectual disability with severe speech impairment or absent speech;
- abnormal involuntary movements, such as dyskinesia and stereotypic movements;
- seizures (epilepsy)
- brain structural abnormalities.
Other observed characteristics were severe behavioral problems, namely autism and self-aggression, and sleep problems.
One individual had a smaller than normal head (microcephaly).