Rare Disease Library

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 congenital cerebellar ataxia

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 degenerative and progressive cerebellar ataxia

Autosomal recessive distal hereditary motor neuropathy

Autosomal recessive distal spinal muscular atrophy · Autosomal recessive dHMN

Autosomal recessive distal myopathy

Autosomal recessive distal renal tubular acidosis

AR dRTA · Autosomal recessive distal RTA

Autosomal recessive dopa-responsive dystonia

Autosomal recessive Segawa syndrome · DYT5b

Autosomal recessive generalized epidermolysis bullosa simplex

Autosomal recessive generalized EBS

Autosomal recessive isolated optic atrophy

Autosomal recessive non-syndromic optic atrophy

Autosomal recessive lower motor neuron disease with childhood onset

Autosomal recessive distal spinal muscular atrophy type 4 · Distal spinal muscular atrophy type 4

Autosomal recessive metabolic cerebellar ataxia

Autosomal recessive methemoglobinemia

Autosomal recessive myogenic arthrogryposis multiplex congenita

Autosomal recessive myogenic AMC · SYNE1-related AMC

Autosomal recessive nail dysplasia

Autosomal recessive omodysplasia

Micromelic dysplasia-dislocation of radius syndrome

Autosomal recessive optic atrophy, OPA7 type

Autosomal recessive polycystic kidney disease

AR-PKD

Autosomal recessive pure spastic paraplegia

Autosomal recessive pure HSP · Autosomal recessive pure SPG

Autosomal recessive Robinow syndrome

COVESDEM syndrome · Costovertebral segmentation defect-mesomelia syndrome

Autosomal recessive secondary polycythemia not associated with VHL gene

Autosomal recessive secondary erythrocytosis not associated with VHL gene · Autosomal recessive secondary erythrocytosis, non-Chuvash type

Autosomal recessive sideroblastic anemia

ARSA · Congenital sideroblastic anemia

Autosomal recessive spastic ataxia

AR-SPAX

Autosomal recessive spastic ataxia of Charlevoix-Saguenay

Autosomal recessive spastic ataxia type 6 · ARSACS

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