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Schaaf-Yang syndrome

Disease Summary
Associated Targets (2)
Tbio

2


GARD Rare
Uniprot Description A disease characterized by clinical features of Prader-Willi syndrome, including neonatal hypotonia with poor suck, feeding problems in infancy, obesity, developmental delay, short stature, and hypogonadism. Additionally, patients manifest autism spectrum disorder. Some patients have dysmorphic facial features.
Mondo Term and Equivalent IDs
MONDO:0014243:  Schaaf-Yang syndrome
GARD:0013316: 
MESH:C535385: 
Orphanet:398069: 
UMLS:C3809877: