Rare Disease Library

Triple A syndrome

2A syndrome · 3A syndrome

Trisomy 13 syndrome

Patau syndrome

Tubulointerstitial nephritis and uveitis syndrome

Dobrin syndrome · TINU syndrome

Turner syndrome

45,X syndrome · 45,X/46,XX syndrome

Urofacial syndrome

Hydronephrosis-inverted smile syndrome · Ochoa syndrome

Usher syndrome

Retinitis pigmentosa-deafness syndrome · USH

W syndrome

Pallister-W syndrome

Wagner disease

Dominant hyaloideoretinal dystrophy of Wagner · VCAN-related vitreoretinopathy

Weaver syndrome

EZH2-related overgrowth syndrome · Syndrome d'hypercroissance associé à EZH2

Werner syndrome

Adult progeria · WS

Wolf-Hirschhorn syndrome

4p- syndrome · Distal deletion 4p

X-linked sideroblastic anemia and spinocerebellar ataxia

Pagon-Bird-Detter syndrome · X-linked sideroblastic anemia with ataxia

XK aprosencephaly syndrome

Garcia-Lurie syndrome · XK syndrome