Rare Disease Library

Autosomal recessive spastic paraplegia type 9B

AR-SPG9B

Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome

SCABD · SCAR3

Autosomal recessive syndromic cerebellar ataxia

Autosomal spastic paraplegia type 58

SPAX2 · Autosomal spastic ataxia type 2

Cerebellar ataxia, Cayman type

Cayman ataxia

Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia

Autosomal recessive spinocerebellar ataxia type 7 · SCAR7

Congenital hereditary endothelial dystrophy type II

Congenital hereditary endothelial dystrophy type 2 · Infantile hereditary endothelial dystrophy

Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies

ARCL1C · Autosomal recessive cutis laxa type 1C

Distal hereditary motor neuropathy, Jerash type

Autosomal recessive distal spinal muscular atrophy type 2 · dHMNJ

Distal spinal muscular atrophy type 3

Autosomal recessive distal spinal muscular atrophy type 3 · dHMN3 and dHMN4

Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome

Autosomal recessive spastic paraplegia type 79

Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome

Autosomal recessive spastic ataxia type 5 · SPAX5

Fukutin-related limb-girdle muscular dystrophy R13

LGMD2M · Autosomal recessive limb-girdle muscular dystrophy type 2M

Generalized pseudohypoaldosteronism type 1

Autosomal recessive pseudohypoaldosteronism type 1 · Autosomal recessive PHA1

Hereditary sensory and autonomic neuropathy due to TECPR2 mutation

HSAN due to TECPR2 mutation · Autosomal recessive spastic paraplegia type 49

Infantile-onset autosomal recessive nonprogressive cerebellar ataxia

Autosomal recessive spinocerebellar ataxia type 6 · SCAR6

Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome

Autosomal recessive spinocerebellar ataxia type 20 · Intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome

Kjellin syndrome

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

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

OBSOLETE: Autosomal dominant spinocerebellar ataxia due to a channelopathy

OBSOLETE: Autosomal dominant spinocerebellar ataxia due to a point mutation

OBSOLETE: Autosomal dominant spinocerebellar ataxia due to a polyglutamine anomaly

OBSOLETE: Autosomal recessive optic atrophy, OPA6 type

OBSOLETE: Autosomal recessive optic atrophy, OPA9 type

OBSOLETE: Unclassified autosomal dominant spinocerebellar ataxia

Osteopetrosis-hypogammaglobulinemia syndrome

Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia · Autosomal recessive osteopetrosis type 7

Progressive autosomal recessive ataxia-deafness syndrome

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

PUM1-related cerebellar ataxia

Adult-onset SCA47 · Adult-onset spinocerebellar ataxia type 47

Spectrin-associated autosomal recessive cerebellar ataxia

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

Spinal muscular atrophy with respiratory distress type 1

Autosomal recessive distal spinal muscular atrophy type 1 · Autosomal recessive spinal muscular atrophy with respiratory distress

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