Atkin-Flaitz syndrome
Atkin-Flaitz syndrome
Definition
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.
Also known as Atkin-Flaitz syndrome, X-linked intellectual disability, Atkin type — per MONDO