Schaaf-Yang syndrome

Definition:

Schaaf-Yang syndrome is a Prader-Willi-like disease [DS:H00478], manifesting developmental delay, intellectual disability, hypotonia, feeding difficulties, and autism spectrum disorder. It has been reported that truncating mutations in MAGEL2, which is located in the Prader-Willi critical region 15q11-13, cause this disease.

References:

[1]. Christian P Schaaf, et al. Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism. Nat Genet. 2013 Nov;45(11):1405-8. [Content Brief]

[2]. Michael D Fountain, et al. The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families. Genet Med. 2017 Jan;19(1):45-52. [Content Brief]

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