DEAF1 autosomal dominant

Parents

What is an autosomal dominant intellectual disability syndrome related to the DEAF1 gene?

It is a genetic disorder caused by a change in one of the two copies of the DEAF1 gene, which results in developmental delay/intellectual disability with severe speech delay and severe behavioral problems.

How many people are affected by intellectual disability syndrome related to the DEAF1 gene?

So far, only nine patients with a change in the DEAF1 gene are known from the medical literature. So, we are still learning more about this condition.