Rare Disease Library

Autosomal recessive spastic paraplegia type 74

SPG74

Autosomal recessive spastic paraplegia type 75

SPG75

Autosomal recessive spastic paraplegia type 76

SPG76

Autosomal recessive spastic paraplegia type 77

SPG77

Autosomal recessive spastic paraplegia type 78

SPG78

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 Stickler syndrome

Autosomal spastic paraplegia type 18

SPG18

Autosomal spastic paraplegia type 30

SPG30

Autosomal spastic paraplegia type 58

SPAX2 · Autosomal spastic ataxia type 2

Autosomal spastic paraplegia type 72

SPG72

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

Hereditary spastic paraplegia

Familial spastic paraplegia · HSP

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

OBSOLETE: Autosomal dominant spastic paraplegia type 9

OBSOLETE: SPG9

OBSOLETE: Autosomal recessive optic atrophy, OPA6 type

OBSOLETE: Autosomal recessive optic atrophy, OPA9 type

Osteopetrosis-hypogammaglobulinemia syndrome

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

Pure or complex autosomal dominant spastic paraplegia

Pure or complicated autosomal dominant spastic paraplegia

Pure or complex autosomal recessive spastic paraplegia

Pure or complicated autosomal recessive spastic paraplegia

Spastic ataxia with congenital miosis

SPAX7 · Autosomal dominant spastic ataxia type 7

Spastic paraplegia type 2

SPG2 · Spastic gait type 2

Spastic paraplegia type 7

SPG7

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

X-linked spastic paraplegia type 16

SPG16

X-linked spastic paraplegia type 34

SPG34

Young adult-onset distal hereditary motor neuropathy

Autosomal recessive distal spinal muscular atrophy type 5 · Young adult-onset dHMN