BackgroundARID1B is one of the most frequently mutated genes in intellectual disability (ID) cohorts. Thus far few adult-aged patients with ARID1B-related disorder have been described, which limits our understanding of the disease's natural history and our ability to counsel patients and their families. MethodsData on patients with ARID1B-related disorder aged 18+ were collected via an online questionnaire completed by clinicians and parents. ResultsEighty-seven adult-aged ARID1B patients were included. Cognitive functioning ranged from borderline to severe ID. Patients identified through the genetic work-up of their child were either mosaic or had a variant in exon 1. New clinical features identified in this population are loss of skill (16/64, 25%) and recurrent patella luxation (12/45, 32%). Self-sustainability data showed that 88% (45/51) could eat independently, and 16% (7/45) could travel alone by public transport. Facial photo analysis showed that patients’ photographs taken at different ages clustered consistently, separate from matched controls. DiscussionThe ARID1B spectrum is broad, and as patients age, there is a significant shift in the medical aspects requiring attention. To address the changing medical needs with advancing age, we have formulated recommendations to promote timely intervention in an attempt to mitigate disease progression.