Families

What is ADGRL1-related syndrome?
ADGRL1-related syndrome is a rare genetic disorder caused by a change (also called mutation or pathogenic variant) in the ADGRL1gene.

This change can lead to developmental delays (for example, later walking or talking), intellectual disability, and neuropsychiatric disorders such as autism spectrum disorder or attention difficulties. Some individuals may also experience epilepsy, neurological problems, or present with distinctive facial features. However, not everyone with a change in the ADGRL1gene will have all these signs, and symptoms may differ significantly between individuals.

How many people are affected by ADGRL1-related syndrome?
ADGRL1-related syndrome is a rare disease. So far, only 10 patients with a change in the ADGRL1gene are known from the medical literature. We are still learning about this condition.