Rare Disease Library

MEPAN syndrome

Mitochondrial enoyl CoA reductase protein-associated neurodegeneration syndrome · Autosomal recessive childhood-onset dystonia, DYT29 type

3-methylglutaconic aciduria type 3

Autosomal recessive optic atrophy plus syndrome · Autosomal recessive optic atrophy type 3

Adult-onset autosomal recessive cerebellar ataxia

Autosomal recessive spinocerebellar ataxia type 10 · SCAR10

Adult-onset cervical dystonia, DYT23 type

DYT23 · Dystonia 23

Autosomal dominant dopa-responsive dystonia

Autosomal dominant Segawa syndrome · DYT5a

Autosomal dominant focal dystonia, DYT25 type

DYT25 · Dystonia 25

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 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 distal hereditary motor neuropathy

Autosomal recessive distal spinal muscular atrophy · Autosomal recessive dHMN

Autosomal recessive dopa-responsive dystonia

Autosomal recessive Segawa syndrome · DYT5b

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 nail dysplasia

Autosomal recessive omodysplasia

Micromelic dysplasia-dislocation of radius syndrome

Autosomal recessive optic atrophy, OPA7 type

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

Childhood-onset autosomal recessive myopathy with external ophthalmoplegia

Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia

Autosomal recessive spinocerebellar ataxia type 7 · SCAR7

Childhood-onset Steinert myotonic dystrophy

Childhood-onset Steinert disease · Childhood-onset myotonic dystrophy type 1

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

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

OBSOLETE: Autosomal recessive childhood-onset cortical cataract

Osteopetrosis-hypogammaglobulinemia syndrome

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