Rare Disease Library

Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome

SCABD · SCAR3

Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome

SCAR21 · Autosomal recessive spinocerebellar ataxia type 21

Adult-onset autosomal recessive cerebellar ataxia

Autosomal recessive spinocerebellar ataxia type 10 · SCAR10

Autosomal dominant cerebellar ataxia

ADCA · Autosomal dominant spinocerebellar ataxia

Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome

ADCA-DN syndrome · Autosomal dominant cerebellar ataxia-hearing loss-narcolepsy syndrome

Autosomal recessive Alport syndrome

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 cerebellar ataxia

ARCA

Autosomal recessive cerebellar ataxia due to a DNA repair defect

Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency

SCAR17 · Spinocerebellar ataxia autosomal recessive type 17

Autosomal recessive cerebellar ataxia due to STUB1 deficiency

SCAR16 · Spinocerebellar ataxia autosomal recessive type 16

Autosomal recessive cerebellar ataxia with late-onset spasticity

Autosomal recessive cerebellar ataxia due to GBA2 deficiency

Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome

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

Salih ataxia · Autosomal recessive spinocerebellar ataxia type 15

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

SCAR23 · Spinocerebellar ataxia autosomal recessive type 23

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

Autosomal recessive spinocerebellar ataxia type 12 · SCAR12

Autosomal recessive cerebellar ataxia-movement disorder syndrome

SCAR4 · SCASI

Autosomal recessive cerebellar ataxia-psychomotor delay syndrome

Autosomal recessive spinocerebellar ataxia type 11 · SCAR11

Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome

Autosomal recessive cerebelloparenchymal disorder type 3

Autosomal recessive spinocerebellar ataxia type 2 · SCAR2

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 degenerative and progressive cerebellar ataxia

Autosomal recessive distal renal tubular acidosis with deafness

AR dRTA with deafness · AR dRTA with hearing loss

Autosomal recessive dopa-responsive dystonia

Autosomal recessive Segawa syndrome · DYT5b

Autosomal recessive metabolic cerebellar ataxia

Autosomal recessive Robinow syndrome

COVESDEM syndrome · Costovertebral segmentation defect-mesomelia syndrome

Autosomal recessive spastic ataxia

AR-SPAX

Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome

Autosomal recessive spastic ataxia type 4 · SPAX4

Autosomal recessive Stickler syndrome

Autosomal recessive syndromic cerebellar ataxia

Cataract-ataxia-deafness syndrome

Cataract-ataxia-hearing loss syndrome

Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia

Autosomal recessive spinocerebellar ataxia type 7 · SCAR7

DOORS syndrome

Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome · Autosomal recessive deafness-onychodystrophy syndrome

Gemignani syndrome

Spinocerebellar ataxia-amyotrophy-hearing loss syndrome · Spinocerebellar ataxia-amyotrophy-deafness syndrome

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

Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome

Combined cerebellar and peripheral ataxia-hearing loss-diabetes mellitus syndrome · Combined cerebellar and peripheral ataxia-deafness-diabetes mellitus syndrome

Myoclonus-cerebellar ataxia-deafness syndrome

Myoclonus-cerebellar ataxia-hearing loss syndrome

Olivopontocerebellar atrophy-deafness syndrome

Olivopontocerebellar atrophy-hearing loss syndrome

Progressive autosomal recessive ataxia-deafness syndrome

Lichtenstein-Knorr syndrome · Progressive autosomal recessive ataxia-sensorineural hearing loss syndrome

Rare autosomal recessive non-syndromic sensorineural deafness type DFNB

Autosomal recessive isolated neurosensory hearing loss type DFNB · Autosomal recessive isolated neurosensory deafness type DFNB

Spectrin-associated autosomal recessive cerebellar ataxia

Infantile-onset spinocerebellar ataxia-psychomotor delay syndrome · Autosomal recessive spinocerebellar ataxia type 14

Spinocerebellar ataxia-dysmorphism syndrome

X-linked spinocerebellar ataxia type 3

SCAX3 · X-linked ataxia-deafness syndrome