Rare Disease Library

Deafness with labyrinthine aplasia, microtia, and microdontia

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

Albinism-deafness syndrome

Albinism-hearing loss syndrome

Bilateral microtia-deafness-cleft palate syndrome

Bilateral microtia-hearing loss-cleft palate syndrome

Cataract-ataxia-deafness syndrome

Cataract-ataxia-hearing loss syndrome

Cutaneous mastocytosis-deafness-microtia syndrome

Mastocytosis-short stature-hearing loss syndrome · Cutaneous mastocytosis-hearing loss-microtia syndrome

Deafness-infertility syndrome

Hearing loss-infertility syndrome · DIS

Deafness-oligodontia syndrome

Hearing loss-oligodontia syndrome

Isotretinoin-like syndrome

Kawashima syndrome · Microtia-aortic arch syndrome

MGAT2-CDG

CDG syndrome type IIa · CDG-IIa

Micro syndrome

WARBM · Warburg micro syndrome

Multiple synostoses syndrome

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

Palmoplantar keratoderma-deafness syndrome

PPK-deafness syndrome · Palmoplantar hyperkeratosis-deafness syndrome

Pendred syndrome

Goiter-deafness syndrome · Goiter-hearing loss syndrome

PMM2-CDG

CDG syndrome type Ia · CDG-Ia

X-linked spinocerebellar ataxia type 3

SCAX3 · X-linked ataxia-deafness syndrome