Rare Disease Library

Gemignani syndrome

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

Ataxia-deafness-intellectual disability syndrome

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

Autosomal dominant cerebellar ataxia

ADCA · Autosomal dominant spinocerebellar ataxia

Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome

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

Autosomal dominant optic atrophy plus syndrome

ADOA+ · DOA+

Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome

SCABD · SCAR3

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

Cerebellar ataxia-ectodermal dysplasia syndrome

Cerebellar ataxia-hypogonadism syndrome

Gordon-Holmes syndrome · Luteinizing hormone-releasing hormone deficiency with ataxia

Deafness-onychodystrophy syndrome

Hearing loss-onychodystrophy 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

Machado-Joseph disease type 1

SCA3, Joseph type · Spinocerebellar ataxia type 3, Joseph type

Machado-Joseph disease type 2

SCA3, Thomas type · Spinocerebellar ataxia, Thomas type

Machado-Joseph disease type 3

SCA3, Machado type · Spinocerebellar ataxia type 3, Machado type

Myoclonus-cerebellar ataxia-deafness syndrome

Myoclonus-cerebellar ataxia-hearing loss syndrome

Olivopontocerebellar atrophy-deafness syndrome

Olivopontocerebellar atrophy-hearing loss syndrome

Spectrin-associated autosomal recessive cerebellar ataxia

Infantile-onset spinocerebellar ataxia-psychomotor delay syndrome · Autosomal recessive spinocerebellar ataxia type 14

Spinocerebellar ataxia type 14

SCA14

Spinocerebellar ataxia type 20

SCA20

Spinocerebellar ataxia type 22

SCA22

Spinocerebellar ataxia type 23

SCA23

Spinocerebellar ataxia type 25

SCA25

Spinocerebellar ataxia type 26

SCA26

Spinocerebellar ataxia type 27A

SCA27A

Spinocerebellar ataxia type 27B

Spinocerebellar ataxia type 28

SCA28

Spinocerebellar ataxia type 29

Congenital nonprogressive spinocerebellar ataxia · SCA29

Spinocerebellar ataxia type 30

SCA30

Spinocerebellar ataxia type 31

SCA31

Spinocerebellar ataxia type 32

Cerebellar ataxia with azoospermia and intellectual disability · SCA32

Spinocerebellar ataxia type 34

Erythrokeratodermia with ataxia · SCA34

Spinocerebellar ataxia type 35

SCA35

Spinocerebellar ataxia type 36

Asidan · SCA36

Spinocerebellar ataxia type 37

SCA37 · Spinocerebellar ataxia with altered vertical eye movements

Spinocerebellar ataxia type 38

SCA38

Spinocerebellar ataxia type 4

SCA4

Spinocerebellar ataxia type 40

SCA40

Spinocerebellar ataxia type 41

SCA41

Spinocerebellar ataxia type 42

SCA42

Spinocerebellar ataxia type 43

SCA43

Spinocerebellar ataxia type 44

Spinocerebellar ataxia type 45

SCA45

Spinocerebellar ataxia type 46

SCA46

Spinocerebellar ataxia type 48

Spinocerebellar ataxia type 49

Spinocerebellar ataxia type 5

SCA5

Spinocerebellar ataxia type 7

Ataxia with pigmentary retinopathy · Cerebellar syndrome-pigmentary maculopathy syndrome