Atkin-Flaitz syndrome

MONDO:0010323

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, Atkin syndrome

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↑ Syndromic disease (7133)

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