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Entry | Name | Description | Category | Pathway | Gene |
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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] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |