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Atkin-Flaitz syndrome
rareAtkin-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.
- Identifiers
- MONDO:0010323 OMIM:300431Orphanet:1193
- Part of
- Syndromic disease
- Also known as
- X-linked intellectual disability, Atkin type
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