In 2016, pathogenic variants were identified in HNRNPH2 (GenBank: NM_019597.4) located at Xq22.1, in association with a NDD characterized by developmental delay/intellectual disability, autistic features, hypotonia, motor and gait disturbances, and seizures (HNRNPH2-related NDD or Intellectual Developmental Disorder, X-linked syndromic, Bain type, OMIM 300986) (Bain et al., 2016, 2021a, b). The gene discussed is HNRNPH2; the disease is Neurodevelopmental delay.