Rare Disease Library

Neutropenia-monocytopenia-deafness syndrome

Neutropenia-monocytopenia-hearing loss syndrome

Albinism-deafness syndrome

Albinism-hearing loss syndrome

Autosomal dominant optic atrophy plus syndrome

ADOA+ · DOA+

Branchiogenic deafness syndrome

Mégarbané-Loiselet syndrome · Branchiogenic hearing loss syndrome

Cataract-ataxia-deafness syndrome

Cataract-ataxia-hearing loss syndrome

Caudal appendage-deafness syndrome

Caudal appendage-hearing loss syndrome · Lynch-Lee-Murday syndrome

Crandall syndrome

Alopecia-deafness-hypogonadism syndrome · Alopecia-sensorineural deafness-hypogonadism syndrome

Craniofacial-deafness-hand syndrome

CDHS · Sommer-Young-Wee-Frye syndrome

Cutaneous mastocytosis-deafness-microtia syndrome

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

Deafness with labyrinthine aplasia, microtia, and microdontia

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

Deafness-craniofacial syndrome

Hearing loss-craniofacial syndrome

Deafness-hypogonadism syndrome

Hearing loss-hypogonadism syndrome

Deafness-infertility syndrome

Hearing loss-infertility syndrome · DIS

Deafness-lymphedema-leukemia syndrome

Hearing loss-lymphedema-leukemia syndrome · Emberger syndrome

Deafness-oligodontia syndrome

Hearing loss-oligodontia syndrome

Deafness-onychodystrophy syndrome

Hearing loss-onychodystrophy syndrome

Deafness-opticoacoustic nerve atrophy-dementia syndrome

Jensen syndrome · hearing loss-opticoacoustic nerve atrophy-dementia syndrome

Deafness-vitiligo-achalasia syndrome

Hearing loss-vitiligo-achalasia syndrome

DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome

DIAPH1-related sensorineural deafness-thrombocytopenia syndrome

Gemignani syndrome

Spinocerebellar ataxia-amyotrophy-hearing loss syndrome · Spinocerebellar ataxia-amyotrophy-deafness syndrome

Hermansky-Pudlak syndrome due to AP-3 deficiency

Hermansky-Pudlak syndrome with neutropenia · Hermansky-Pudlak syndrome due to adaptor protein 3 complex deficiency

High myopia-sensorineural deafness syndrome

High myopia-sensorineural hearing loss syndrome

Hypotrichosis-deafness syndrome

Hypotrichosis-hearing loss syndrome

Jervell and Lange-Nielsen syndrome

Long QT interval-deafness syndrome · Long QT interval-hearing loss syndrome

Mohr-Tranebjaerg syndrome

DDON syndrome · Deafness-dystonia-optic neuronopathy syndrome

Nephropathy-deafness-hyperparathyroidism syndrome

Edwards-Patton-Dilly syndrome · Nephropathy-hearing loss-hyperparathyroidism syndrome

Pendred syndrome

Goiter-deafness syndrome · Goiter-hearing loss syndrome

Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome

Thong-Douglas-Ferrante syndrome · Short stature-hearing loss-neutrophil dysfunction-dysmorphism syndrome

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

Tietz syndrome

Hypopigmentation-deafness syndrome · Hypopigmentation-hearing loss syndrome

X-linked spinocerebellar ataxia type 3

SCAX3 · X-linked ataxia-deafness syndrome