Atkin-Flaitz syndrome is characterized by moderate to severe intellectual deficit, short stature, macrocephaly, and characteristic facies. It has been described in 11 males and three females from three successive generations of the same family. The males also presented with postpubertal macroorchidism. Transmission is X-linked. The disease is Monarch Disease Ontology identifier MONDO_0010323 (Atkin-Flaitz syndrome). Also known as: X-linked intellectual disability, Atkin type.