Rare Disease Library

Townes-Brocks syndrome

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

Trisomy 13 syndrome

Patau syndrome

W syndrome

Pallister-W syndrome

X-linked intellectual disability-spastic paraplegia with iron deposits syndrome

Arena syndrome

X-linked lymphoproliferative disease

Duncan disease · Purtilo syndrome