Rare Disease Library

Multiple synostoses syndrome

Deafness-Hermann type symphalangism syndrome · Facio-audio-symphalangism

Albinism-deafness syndrome

Albinism-hearing loss syndrome

Deafness with labyrinthine aplasia, microtia, and microdontia

Hearing loss with labyrinthine aplasia, microtia, and microdontia · LAMM syndrome

Deafness-hypogonadism syndrome

Hearing loss-hypogonadism syndrome

Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency

HPS10 · Hermansky-Pudlak syndrome type 10

Hermansky-Pudlak syndrome due to AP3B1 deficiency

Hermansky-Pudlak syndrome due to adaptator related protein complex 3 subunit beta1 deficiency · Hermansky-Pudlak syndrome with neutropenia due to AP3B1 deficiency

Hermansky-Pudlak syndrome type 8

HPS8

Hermansky-Pudlak syndrome type 9

HPS9

Palmoplantar keratoderma-deafness syndrome

PPK-deafness syndrome · Palmoplantar hyperkeratosis-deafness syndrome

Pendred syndrome

Goiter-deafness syndrome · Goiter-hearing loss syndrome

Proximal symphalangism

Symphalangism, Cushing type

Sillence syndrome

Brachydactyly-symphalangism syndrome