It is important to note that to date (mid 2023), only 10 patients have been precisely described in the scientific literature. The following data are based on this small number of patients and may therefore be imprecise.
What characteristics do patients with a change in the ADGRL1gene have in common?
Most children with ADGRL1-related disorder manifest a psychomotor developmental delay (a child’s delay in the acquisition of abilities such as walking or speaking). This delay may be associated with intellectual disability (characterized by significant limitations in both intellectual functioning and adaptive behavior). The degree of intellectual disability may range from mild to moderate and this may interfere with the capacity of a child to become fully autonomous as adult.
Behavioral disorders are also frequent, particularly impaired social skills and autism spectrum disorder.
What other health implications may be associated with a ADGRL1gene change?
Some children may present with epilepsy, which can manifest in different types of seizures.
Children may also present with decreased muscle tone, increased head circumference, sleep disturbance and/or overweight.
ADGRL1