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Atkin-Flaitz syndrome

Disease Summary
Associated Targets ()

Mondo Description Atkin-Flaitz syndrome is characterised 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.
Mondo Term and Equivalent IDs
MONDO:0010323:  Atkin-Flaitz syndrome
GARD:0003537: 
Orphanet:1193: 
SCTID:718577005: