PPP2 syndrome type R5D, or Jordan’s Syndrome, is a neurodevelopmental disorder caused by pathogenic missense variants in PPP2R5D, a beta subunit of the Protein Phosphatase 2A (PP2A) (G. Mirzaa, 2019). The condition is characterized by global developmental delays, seizures, macrocephaly, ophthalmological abnormalities, hypotonia, attention disorder, social and sensory challenges often associated with autism, disordered sleep, and feeding difficulties. Among affected individuals, there is a broad…
