Rare Disease Library

Kjellin syndrome

Hereditary spastic paraparesis type 15 · Autosomal recessive spastic paraplegia type 15

3-methylglutaconic aciduria type 3

Autosomal recessive optic atrophy plus syndrome · Autosomal recessive optic atrophy type 3

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

Adult-onset autosomal recessive sideroblastic anemia

GLRX5-related sideroblastic anemia

Autosomal dominant complex spastic paraplegia

Autosomal dominant complex HSP · Autosomal dominant complex SPG

Autosomal dominant pure spastic paraplegia

Autosomal dominant pure HSP · Autosomal dominant pure SPG

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 amelia

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 brachyolmia

Brachyolmia, Hobaek/Toledo type

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

Autosomal recessive complex HSP · Autosomal recessive complex SPG

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 cutis laxa type 1

ARCL1 · Autosomal recessive cutis laxa with severe systemic involvement

Autosomal recessive cutis laxa type 2

Cutis laxa with joint laxity and developmental delay · ARCL2

Autosomal recessive cutis laxa type 2, classic type

ARCL2, Debré type · ARCL2, classic type

Autosomal recessive cutis laxa type 2A

ARCL2A

Autosomal recessive cutis laxa type 2B

ARCL2, progeroid type · ARCL2B

Autosomal recessive distal hereditary motor neuropathy

Autosomal recessive distal spinal muscular atrophy · Autosomal recessive dHMN