What is an autosomal recessive intellectual disability syndrome related to the DEAF1 gene?
It is a genetic disorder caused by a change in both copies of the DEAF1 gene, which results in developmental delay/intellectual disability with severe speech delay, abnormal involuntary movements (dyskinesia) and seizures (epilepsy). Patients may also have decreased muscle tone (hypotonia), severe behavioral problems and brain structural abnormalities.
How many people are affected by intellectual disability syndrome related to the DEAF1 gene?
So far, only seven patients with a change in both copies of the DEAF1 gene (belonging to four apparently unrelated families) are known from the medical literature. So, we are still learning more about this condition.