Rare Disease Library

Deafness-vitiligo-achalasia syndrome

Hearing loss-vitiligo-achalasia syndrome

Abruzzo-Erickson syndrome

CHARGE-like syndrome · Cleft palate-coloboma-deafness syndrome

Achalasia-alacrimia syndrome

Achalasia-microcephaly syndrome

Albinism-deafness syndrome

Albinism-hearing loss syndrome

Ataxia-deafness-intellectual disability syndrome

Reardon-Baraitser syndrome · Ataxia-hearing loss-intellectual disability syndrome

Björnstad syndrome

Deafness-pili torti-hypogonadism syndrome · Hearing loss-pili torti-hypogonadism syndrome

Branchiogenic deafness syndrome

Mégarbané-Loiselet syndrome · Branchiogenic hearing loss syndrome

Cataract-ataxia-deafness syndrome

Cataract-ataxia-hearing loss syndrome

Cataract-deafness-hypogonadism syndrome

Cataract-hearing loss-hypogonadism syndrome · Schaap-Taylor-Baraitser 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

De Hauwere syndrome

De Hauwere-Chitty syndrome · Iris dysplasia-hypertelorism-deafness 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-enamel hypoplasia-nail defects syndrome

Heimler syndrome · Hearing loss-enamel hypoplasia-nail defects syndrome

Deafness-epiphyseal dysplasia-short stature syndrome

Chitty-Hall-Baraitser syndrome · Hearing loss-epiphyseal dysplasia-short stature 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

Ectodermal dysplasia-sensorineural deafness syndrome

Ectodermal dysplasia-sensorineural hearing loss syndrome

Epiphyseal dysplasia-hearing loss-dysmorphism syndrome

Finucane-Kurtz-Scott syndrome · Epiphyseal dysplasia-deafness-dysmorphism syndrome

Fountain syndrome

Deafness-skeletal dysplasia-coarse face with full lips syndrome · Deafness-skeletal dysplasia-lip granuloma syndrome

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

Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome

MDPL syndrome · MDP syndrome

Multiple epiphyseal dysplasia, Beighton type

Multiple epiphyseal dysplasia-myopia-hearing loss syndrome · Multiple epiphyseal dysplasia-myopia-deafness syndrome

Multiple synostoses syndrome

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

Myoclonus-cerebellar ataxia-deafness syndrome

Myoclonus-cerebellar ataxia-hearing loss syndrome

Neutropenia-monocytopenia-deafness syndrome

Neutropenia-monocytopenia-hearing loss syndrome

Pendred syndrome

Goiter-deafness syndrome · Goiter-hearing loss syndrome

Rare syndromic genetic deafness

Rare syndromic genetic hearing loss

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

Usher syndrome

Retinitis pigmentosa-deafness syndrome · USH

X-linked spinocerebellar ataxia type 3

SCAX3 · X-linked ataxia-deafness syndrome