Rare Disease Library

Spastic paraparesis-deafness syndrome

Wells-Jankovic syndrome · Spastic paraparesis-hearing loss syndrome

Spastic paraplegia-nephritis-deafness syndrome

Spastic paraplegia-nephritis-hearing loss syndrome · Fitzsimmons-Walson-Mellor syndrome

Split hand-split foot-deafness syndrome

Split hand-split foot-hearing loss syndrome

Tetraamelia-multiple malformations syndrome

Zimmer phocomelia · PAPPAS

Thoracolaryngopelvic dysplasia

Barnes syndrome

Tietz syndrome

Hypopigmentation-deafness syndrome · Hypopigmentation-hearing loss syndrome

Townes-Brocks syndrome

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

Triphalangeal thumb-polysyndactyly syndrome

TPT-PS syndrome

Triple A syndrome

2A syndrome · 3A syndrome

Trisomy 13 syndrome

Patau syndrome

Tubulointerstitial nephritis and uveitis syndrome

Dobrin syndrome · TINU syndrome

Usher syndrome

Retinitis pigmentosa-deafness syndrome · USH

Vitamin K antagonist embryofetopathy

Vitamin K antagonist embryopathy · di Sala syndrome

W syndrome

Pallister-W syndrome

Wolf-Hirschhorn syndrome

4p- syndrome · Distal deletion 4p

X-linked spinocerebellar ataxia type 3

SCAX3 · X-linked ataxia-deafness syndrome

XK aprosencephaly syndrome

Garcia-Lurie syndrome · XK syndrome