Don’t fight Atkin syndrome alone.
Find your community on the free RareGuru App.The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 1193
Definition
A rare syndrome 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.
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Source: GARD Last updated on 05-01-20
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