Rare Disease Library

Autosomal spastic paraplegia type 58

SPAX2 · Autosomal spastic ataxia type 2

Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome

SCAR21 · Autosomal recessive spinocerebellar ataxia type 21

Adult-onset autosomal recessive cerebellar ataxia

Autosomal recessive spinocerebellar ataxia type 10 · SCAR10

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 pure spastic paraplegia

Autosomal dominant pure HSP · Autosomal dominant pure SPG

Autosomal dominant spastic ataxia

AD-SPAX

Autosomal dominant spastic ataxia type 1

SPAX1

Autosomal dominant spastic paraplegia type 10

SPG10

Autosomal dominant spastic paraplegia type 12

SPG12

Autosomal dominant spastic paraplegia type 13

SPG13

Autosomal dominant spastic paraplegia type 17

SPG17 · Silver syndrome

Autosomal dominant spastic paraplegia type 19

SPG19

Autosomal dominant spastic paraplegia type 29

SPG29

Autosomal dominant spastic paraplegia type 3

Strümpell disease · Autosomal dominant spastic paraplegia type 3A

Autosomal dominant spastic paraplegia type 31

SPG31

Autosomal dominant spastic paraplegia type 36

SPG36

Autosomal dominant spastic paraplegia type 37

SPG37

Autosomal dominant spastic paraplegia type 38

SPG38

Autosomal dominant spastic paraplegia type 4

SPG4

Autosomal dominant spastic paraplegia type 41

SPG41

Autosomal dominant spastic paraplegia type 42

SPG42

Autosomal dominant spastic paraplegia type 6

SPG6

Autosomal dominant spastic paraplegia type 73

SPG73

Autosomal dominant spastic paraplegia type 8

SPG8

Autosomal dominant spastic paraplegia type 80

Autosomal dominant spastic paraplegia type 9A

Cataracts-motor neuropathy-short stature-skeletal anomalies syndrome · Spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome

Autosomal dominant spastic paraplegia type 9B

AD-SPG9B

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 due to CWF19L1 deficiency

SCAR17 · Spinocerebellar ataxia autosomal recessive type 17

Autosomal recessive cerebellar ataxia due to STUB1 deficiency

SCAR16 · Spinocerebellar ataxia autosomal recessive type 16

Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency

Salih ataxia · Autosomal recessive spinocerebellar ataxia type 15

Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency

SCAR23 · Spinocerebellar ataxia autosomal recessive type 23

Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency

Autosomal recessive spinocerebellar ataxia type 12 · SCAR12

Autosomal recessive cerebellar ataxia-psychomotor delay syndrome

Autosomal recessive spinocerebellar ataxia type 11 · SCAR11

Autosomal recessive cerebelloparenchymal disorder type 3

Autosomal recessive spinocerebellar ataxia type 2 · SCAR2

Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction

Autosomal recessive complex SPG due to Kennedy pathway dysfunction · Autosomal recessive spastic paraplegia type 81

Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency

Autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency · Autosomal recessive spinocerebellar ataxia type 13

Autosomal recessive spastic ataxia

AR-SPAX

Autosomal recessive spastic ataxia of Charlevoix-Saguenay

Autosomal recessive spastic ataxia type 6 · ARSACS

Autosomal recessive spastic ataxia with leukoencephalopathy

ARSAL · Autosomal recessive spastic ataxia type 3

Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome

Autosomal recessive spastic ataxia type 4 · SPAX4

Autosomal recessive spastic paraplegia type 11

Nakamura-Osame syndrome · SPG11

Autosomal recessive spastic paraplegia type 14

SPG14

Autosomal recessive spastic paraplegia type 20

Childhood-onset spastic paraparesis-distal muscle wasting syndrome · SPG20