Rare Disease Library

Spinocerebellar ataxia with epilepsy

MSCAE · Mitochondrial spinocerebellar ataxia with epilepsy

Autosomal recessive ataxia due to ubiquinone deficiency

ARCA2 · Autosomal recessive ataxia due to coenzyme Q10 deficiency

Autosomal recessive ataxia, Beauce type

SCAR8 · ARCA1

Autosomal recessive cerebellar ataxia-movement disorder syndrome

SCAR4 · SCASI

Autosomal recessive cerebelloparenchymal disorder type 3

Autosomal recessive spinocerebellar ataxia type 2 · SCAR2

Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome

SCABD · SCAR3

CAMOS syndrome

Cerebellar ataxia-intellectual disability-optic atrophy-skin abnormalities syndrome · SCAR5

Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia

Autosomal recessive spinocerebellar ataxia type 7 · SCAR7

Infantile-onset autosomal recessive nonprogressive cerebellar ataxia

Autosomal recessive spinocerebellar ataxia type 6 · SCAR6

Short chain acyl-CoA dehydrogenase deficiency

ACADS deficiency · SCAD deficiency

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 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 45

SCA45

Spinocerebellar ataxia type 46

SCA46

Spinocerebellar ataxia type 5

SCA5

Spinocerebellar ataxia type 7

Ataxia with pigmentary retinopathy · Cerebellar syndrome-pigmentary maculopathy syndrome

Spinocerebellar ataxia type 8

SCA8

Spinocerebellar ataxia with axonal neuropathy type 1

SCAN1

Spinocerebellar ataxia with axonal neuropathy type 2

AOA2 · Ataxia-oculomotor apraxia type 2

Syringocystadenoma papilliferum

Papillary syringocystadenoma · Fistulous vegetative verrucous hydradenoma

X-linked spinocerebellar ataxia type 3

SCAX3 · X-linked ataxia-deafness syndrome

X-linked spinocerebellar ataxia type 4

SCAX4 · X-linked ataxia-dementia syndrome