Rare Disease Library

Jervell and Lange-Nielsen syndrome

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

Albinism-deafness syndrome

Albinism-hearing loss syndrome

Andersen-Tawil syndrome

Andersen syndrome · LQT7

Ataxia-deafness-intellectual disability syndrome

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

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

Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome

Hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibers · Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome

Congenital long QT syndrome

Congenital LQTS

Craniofacial-deafness-hand syndrome

CDHS · Sommer-Young-Wee-Frye syndrome

Deafness-craniofacial syndrome

Hearing loss-craniofacial syndrome

Deafness-hypogonadism syndrome

Hearing loss-hypogonadism syndrome

Deafness-infertility syndrome

Hearing loss-infertility syndrome · DIS

Deafness-intellectual disability syndrome, Martin-Probst type

X-linked hearing loss-intellectual disability syndrome · Martin-Probst syndrome

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

Growth delay due to insulin-like growth factor type 1 deficiency

Growth delay-hearing loss-intellectual disability syndrome · IGF-1 deficiency

Hypotrichosis-deafness syndrome

Hypotrichosis-hearing loss syndrome

Lipodystrophy-intellectual disability-deafness syndrome

Rajab-Spranger syndrome · Lipodystrophy-intellectual disability-hearing loss syndrome

Palmoplantar keratoderma-deafness syndrome

PPK-deafness syndrome · Palmoplantar hyperkeratosis-deafness syndrome

Pendred syndrome

Goiter-deafness syndrome · Goiter-hearing loss syndrome

Perrault syndrome

XX gonadal dysgenesis-hearing loss syndrome · XX gonadal dysgenesis-deafness syndrome

Romano-Ward syndrome

Romano-Ward long QT syndrome

Split hand-split foot-deafness syndrome

Split hand-split foot-hearing loss syndrome

Timothy syndrome

LQT8 · Long QT syndrome type 8

X-linked spinocerebellar ataxia type 3

SCAX3 · X-linked ataxia-deafness syndrome