Rare Disease Library

Prelingual non-syndromic genetic deafness

Isolated prelingual genetic deafness · Isolated prelingual genetic hearing loss

Ramos-Arroyo syndrome

Corneal anesthesia-hearing loss-intellectual disability syndrome · Corneal anesthesia-deafness-intellectual disability syndrome

Rare syndromic genetic deafness

Rare syndromic genetic hearing loss

Renal caliceal diverticuli-deafness syndrome

Renal caliceal diverticuli-hearing loss syndrome

Richards-Rundle syndrome

Ketoaciduria-intellectual disability-ataxia-deafness syndrome · Ketoaciduria-intellectual disability-ataxia-hearing loss syndrome

Romano-Ward syndrome

Romano-Ward long QT syndrome

Spastic paraparesis-deafness syndrome

Wells-Jankovic syndrome · Spastic paraparesis-hearing loss syndrome

Split hand-split foot-deafness syndrome

Split hand-split foot-hearing loss syndrome

Tietz syndrome

Hypopigmentation-deafness syndrome · Hypopigmentation-hearing loss syndrome

Timothy syndrome

LQT8 · Long QT syndrome type 8

Usher syndrome

Retinitis pigmentosa-deafness syndrome · USH

Woodhouse-Sakati syndrome

Diabetes-hypogonadism-deafness-intellectual disability syndrome · Diabetes-hypogonadism-hearing loss-intellectual disability syndrome

X-linked spinocerebellar ataxia type 3

SCAX3 · X-linked ataxia-deafness syndrome