Rare Disease Library

Stickler syndrome

Hereditary progressive arthroophthalmopathy

Stimmler syndrome

Tetramelic monodactyly

Sommer-Hines syndrome

Thoracolaryngopelvic dysplasia

Barnes syndrome

Thyrocerebrorenal syndrome

Cutler-Bass-Romshe syndrome

Townes-Brocks syndrome

Sensorineural hearing loss with imperforate anus and hypoplastic thumbs · REAR syndrome

Triple A syndrome

2A syndrome · 3A syndrome

Turner syndrome

45,X syndrome · 45,X/46,XX 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 intellectual disability-macrocephaly-macroorchidism syndrome

Johnson syndrome

XK aprosencephaly syndrome

Garcia-Lurie syndrome · XK syndrome