Rare Disease Library

Autosomal recessive cutis laxa type 2B

ARCL2, progeroid type · ARCL2B

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

Autosomal dominant cutis laxa

ADCL

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 axonal hereditary motor and sensory neuropathy

AR-CMT2 · Autosomal recessive axonal Charcot-Marie-Tooth disease type 2

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

SCAR23 · Spinocerebellar ataxia autosomal recessive type 23

Autosomal recessive cerebelloparenchymal disorder type 3

Autosomal recessive spinocerebellar ataxia type 2 · SCAR2

Autosomal recessive Charcot-Marie-Tooth disease type 2X

CMT2X · Autosomal recessive Charcot-Marie-Tooth disease type 2 due to SPG11 mutation

Autosomal recessive Charcot-Marie-Tooth disease with hoarseness

ARCMT2K · Autosomal recessive axonal CMT4C4

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 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 distal hereditary motor neuropathy

Autosomal recessive distal spinal muscular atrophy · Autosomal recessive dHMN

Autosomal recessive distal renal tubular acidosis

AR dRTA · Autosomal recessive distal RTA

Autosomal recessive myogenic arthrogryposis multiplex congenita

Autosomal recessive myogenic AMC · SYNE1-related AMC

Autosomal recessive optic atrophy, OPA7 type

Autosomal recessive proximal renal tubular acidosis

AR pRTA · Proximal renal tubular acidosis with ocular abnormalities and intellectual disability

Autosomal recessive pure spastic paraplegia

Autosomal recessive pure HSP · Autosomal recessive pure SPG

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

Autosomal recessive spastic paraplegia type 21

Mast syndrome · SPG21

Autosomal recessive spastic paraplegia type 23

Lison syndrome · SPG23

Autosomal recessive spastic paraplegia type 24

SPG24

Autosomal recessive spastic paraplegia type 25

Autosomal recessive spastic paraplegia-disc herniation syndrome · SPG25

Autosomal recessive spastic paraplegia type 26

GM2 synthase deficiency · SPG26

Autosomal recessive spastic paraplegia type 27

SPG27

Autosomal recessive spastic paraplegia type 28

SPG28

Autosomal recessive spastic paraplegia type 32

SPG32

Autosomal recessive spastic paraplegia type 35

SPG35

Autosomal recessive spastic paraplegia type 39

SPG39 · Spastic paraplegia due to NTE mutation

Autosomal recessive spastic paraplegia type 43

SPG43

Autosomal recessive spastic paraplegia type 44

SPG44

Autosomal recessive spastic paraplegia type 45

Autosomal recessive spastic paraplegia type 65 · SPG45

Autosomal recessive spastic paraplegia type 46

SPG46

Autosomal recessive spastic paraplegia type 48

SPG48

Autosomal recessive spastic paraplegia type 53

SPG53

Autosomal recessive spastic paraplegia type 54

SPG54

Autosomal recessive spastic paraplegia type 55

SPG55