Rare Disease Library

Autosomal recessive spastic paraplegia type 82

Autosomal recessive spastic paraplegia type 83

Autosomal recessive spastic paraplegia type 84

Autosomal recessive spastic paraplegia type 85

Autosomal recessive spastic paraplegia type 86

Autosomal recessive spastic paraplegia type 87

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

Beta-sarcoglycan-related limb-girdle muscular dystrophy R4

Beta-sarcoglycanopathy · LGMD2E

Calpain-3-related limb-girdle muscular dystrophy R1

LGMD2A · Limb-girdle muscular dystrophy due to calpain deficiency

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

Delta-sarcoglycan-related limb-girdle muscular dystrophy R6

Delta-sarcoglycanopathy · LGMD2F

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

Dysferlin-related limb-girdle muscular dystrophy R2

LGMD2B · Limb-girdle muscular dystrophy due to dysferlin deficiency

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

FKRP-related limb-girdle muscular dystrophy R9

Autosomal recessive limb-girdle muscular dystrophy type 2I · LGMD2I

Fukutin-related limb-girdle muscular dystrophy R13

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

Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5

Gamma-sarcoglycanopathy · LGMD2C

Generalized pseudohypoaldosteronism type 1

Autosomal recessive pseudohypoaldosteronism type 1 · Autosomal recessive PHA1

GMPPB-related limb-girdle muscular dystrophy R19

LGMD2T · Autosomal recessive limb-girdle muscular dystrophy type 2T

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

Infantile-onset spinocerebellar ataxia

IOSCA · Ohaha syndrome

ISPD-related limb-girdle muscular dystrophy R20

LGMD2U · Autosomal recessive limb-girdle muscular dystrophy type 2U

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 limb-girdle muscular dystrophy with cerebellar involvement

OBSOLETE: Autosomal recessive LGMD with cerebellar involvement

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

Plectin-related limb-girdle muscular dystrophy R17

LGMD2Q · Plectin-related LGMD R17

POGLUT1-related limb-girdle muscular dystrophy R21

LGMD2Z · Autosomal recessive limb-girdle muscular dystrophy type 2Z

POMGNT1-related limb-girdle muscular dystrophy R15

LGMD2O · Autosomal recessive limb-girdle muscular dystrophy type 2O

POMT1-related limb-girdle muscular dystrophy R11

Autosomal recessive limb-girdle muscular dystrophy type 2K · POMT1-related LGMD R11

POMT2-related limb-girdle muscular dystrophy R14

LGMD2N · Autosomal recessive limb-girdle muscular dystrophy type 2N