What is autosomal recessive intellectual disability syndrome related to the HERC1 gene?
It is a genetic disorder caused by a change in both copies of the HERC1 gene, which results in developmental delay/intellectual disability with abnormally large head (macrocephaly), speech problem, decreased muscle tone (hypotonia), skeletal abnormalities and seizures (epilepsy). Patients may also have, mild behavioral problems and brain structural abnormalities.
How many people are affected by intellectual disability syndrome related to the HERC1 gene?
So far, only six patients with a change in both copies of the HERC1 gene (belonging to four apparently unrelated families) are known from the literature. So, we are still learning more about this condition.