ADGRL1-related disorder is a rare condition with autosomal dominant inheritance. Most mutations in patients are de novo but two families with multiple affected parents were reported.
This syndrome is responsible for a large spectrum of neurodevelopmental disorders, ranging from isolated neuropsychiatric disorders (autism spectrum disorder, attention deficit/hyperactivity disorder) to global developmental delay with intellectual disability.
First described in 2022, only 10 patients were reported in the literature in mid 2023.
ADGRL1