The syndrome caused by variants in JARID2 is characterized by developmental delay (delay in learning skills compared to other children), intellectual disability, hypotonia (floppiness), autistic features, and dysmorphic facial features (abnormal differences in face structure). Behavioural abnormalities such as aggressivity, tendency to obsessive/compulsive and perseverative behaviour, attention deficit–hyperactivity disorder (ADHD), and trouble with socialization are common. Seizures can also be found.
JARID2