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Wilson-Turner syndrome

Disease Summary
Associated Targets (2)
Tclin

1

Tbio

1


GARD Rare
Mondo Description Wilson-Turner syndrome (WTS) is a very rare X-linked multisystem genetic disease characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature.
Uniprot Description A neurologic disorder characterized by severe intellectual disability, dysmorphic facial features, hypogonadism, short stature, and truncal obesity. Affected females have a milder phenotype than affected males.
Mondo Term and Equivalent IDs
MONDO:0010665:  Wilson-Turner syndrome
GARD:0005579: 
MESH:C536708: 
Orphanet:3459: 
SCTID:719834005: