Jordan's syndrome (JS) or PPP2R5D-related intellectual disability is a rare autosomal dominant neurodevelopmental disorder caused by de novo mutations in the PPP2R5D gene.
[4][1] Patients with JS may meet some or all criteria for diagnosis with autism spectrum disorder due to many shared developmental symptoms.
[3] Initial clinical findings may include macrocephaly, hypotonia, epilepsy, ophthalmologic abnormalities, and dysmorphic facial features.
[7] Lang's parents founded the charitable organization Jordan's Guardian Angels to connect families of individuals with JS.
The foundation also funds PPP2R5D research, spanning diverse model systems from alpacas and fruit flies[8] to patient-derived induced pluripotent stem cells.