Parents

What is GLRA2-related disorder?  
GLRA2-related disorder is a genetic disorder caused by changes (known as mutations or pathogenic variants) in the GLRA2 gene.

Patients with this syndrome have developmental delay, learning problems or intellectual disability. Other features reported in patients include low muscle tone, lack of motor coordination, seizures, autism spectrum disorder, attention deficit and hyperactivity disorder (ADHD), and eye abnormalities. Not all individuals with a change in GLRA2 gene have all these features.

How is GLRA2-related disorder inherited?
Mutations in GLRA2 can be inherited from the mother (who may or may not have the diagnosis) or can be a new change (also called de novo) with no prior family history.

How many people are affected with GLRA2-related disorder?
GLRA2-related disorder is rare. So far less than 20 individuals were reported in scientific literature (including patients that presented with developmental delay and autism, and patients that only had the eye abnormalities). We are still learning about this condition.