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Entry Name Description Category Pathway Gene
H02325 Schaaf-Yang syndrome ... 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. Congenital malformation MAGEL2 [HSA:54551] [KO:K23950]
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