Most individuals with ARID2 pathogenic variants demonstrate intellectual disability, hypotonia, and behavioural anomalies. Birth defects are not common. Several individuals have demonstrated mild hypoplasia of the fifth fingernails and hypoplasia of the fifth toenails. Individuals with ARID2 pathogenic variants share some facial features with each other: coarse features, frontal bossing and high forehead, narrow palpebral fissures, flat nasal bridge, slightly broad nose with upturned nasal tip and thick, anteverted alae nasi, prominent philtrum, and a large mouth with a thick lower vermilion. (Bramswig et al., 2017; Gazdagh et al., 2018; Schrier Vergano et al., 1993)
ARID2