Rare Disease Library

Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome

ADCA-DN syndrome · Autosomal dominant cerebellar ataxia-hearing loss-narcolepsy syndrome

Ataxia-deafness-intellectual disability syndrome

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

Autosomal dominant Alport syndrome

Autosomal dominant cerebellar ataxia

ADCA · Autosomal dominant spinocerebellar ataxia

Autosomal dominant cerebellar ataxia type I

ADCA1 · ADCAI

Autosomal dominant cerebellar ataxia type II

ADCA2 · ADCAII

Autosomal dominant cerebellar ataxia type III

ADCA3 · ADCAIII

Autosomal dominant cerebellar ataxia type IV

ADCA4 · ADCAIV

Autosomal dominant deafness-onychodystrophy syndrome

DDOD syndrome · Autosomal dominant hearing loss-onychodystrophy syndrome

Autosomal dominant dopa-responsive dystonia

Autosomal dominant Segawa syndrome · DYT5a

Autosomal dominant Kenny-Caffey syndrome

Autosomal dominant optic atrophy and congenital deafness

Konigsmark-Knox-Hussels syndrome · Autosomal dominant optic atrophy and congenital hearing loss

Autosomal dominant Robinow syndrome

Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome

Autosomal recessive cerebellar ataxia-movement disorder syndrome

SCAR4 · SCASI

Autosomal recessive cerebellar ataxia-psychomotor delay syndrome

Autosomal recessive spinocerebellar ataxia type 11 · SCAR11

Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome

SCABD · SCAR3

Autosomal recessive syndromic cerebellar ataxia

Cataract-ataxia-deafness syndrome

Cataract-ataxia-hearing loss syndrome

Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome

Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural deafness syndrome · CAPOS syndrome

EAST syndrome

Epilepsy-ataxia-sensorineural hearing loss-tubulopathy syndrome · SeSAME syndrome

Gemignani syndrome

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

Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome

Combined cerebellar and peripheral ataxia-hearing loss-diabetes mellitus syndrome · Combined cerebellar and peripheral ataxia-deafness-diabetes mellitus syndrome

Myoclonus-cerebellar ataxia-deafness syndrome

Myoclonus-cerebellar ataxia-hearing loss syndrome

OBSOLETE: Autosomal dominant Opitz G/BBB syndrome

OBSOLETE: Autosomal dominant Opitz BBB/G syndrome · OBSOLETE: ADOS

OBSOLETE: Autosomal dominant spinocerebellar ataxia due to a channelopathy

OBSOLETE: Unclassified autosomal dominant spinocerebellar ataxia

Olivopontocerebellar atrophy-deafness syndrome

Olivopontocerebellar atrophy-hearing loss syndrome

Progressive autosomal recessive ataxia-deafness syndrome

Lichtenstein-Knorr syndrome · Progressive autosomal recessive ataxia-sensorineural hearing loss syndrome

Rare autosomal dominant non-syndromic sensorineural deafness type DFNA

Autosomal dominant isolated neurosensory deafness type DFNA · Autosomal dominant isolated neurosensory hearing loss type DFNA

X-linked spinocerebellar ataxia type 3

SCAX3 · X-linked ataxia-deafness syndrome