Autosomal recessive cerebellar ataxia

Autosomal recessive cerebellar ataxia describes a heterogeneous group of rare genetic disorders with an autosomal recessive inheritance pattern and a clinical phenotype involving cerebellar ataxia.

It may refer to: • Autosomal recessive cerebellar ataxia type 1, a.k.a. autosomal recessive ataxia, Beauce type

• Autosomal recessive cerebelloparenchymal disorder type 3

• Dysequilibrium syndrome

• CAMOS syndrome

• Cerebellar ataxia, Cayman type

• Joubert syndrome with oculorenal defect

• Joubert syndrome

• Joubert syndrome with hepatic defect

• Orofaciodigital syndrome type 6

• Joubert syndrome with ocular defect

• Joubert syndrome with renal defect

• Joubert syndrome with Jeune asphyxiating thoracic dystrophy

• Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency

• Congenital cerebellar ataxia due to RNU12 mutation

• Ataxia with vitamin E deficiency

• Abetalipoproteinemia

• Refsum disease

• Cerebrotendinous xanthomatosis

• Infantile Refsum disease

• Recessive mitochondrial ataxia syndrome

• Autosomal recessive ataxia due to PEX10 deficiency

• Autosomal recessive cerebellar ataxia with late-onset spasticity

• Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency

• Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency

• Ataxia-telangiectasia

• Ataxia-oculomotor apraxia type 1

• Spinocerebellar ataxia with axonal neuropathy type 2

• Spinocerebellar ataxia with axonal neuropathy type 1

• Xeroderma pigmentosum-Cockayne syndrome complex

• Ataxia-telangiectasia-like disorder

• Xeroderma pigmentosum

• RIDDLE syndrome

• Friedreich ataxia

• Early-onset cerebellar ataxia with retained tendon reflexes

• Infantile onset spinocerebellar ataxia

• Marinesco-Sjögren syndrome

• Congenital cataracts-facial dysmorphism-neuropathy syndrome

• Posterior column ataxia-retinitis pigmentosa syndrome

• Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome

• Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome, a.k.a.  spinocerebellar ataxia, autosomal recessive 3 (SCAR3)

• Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome

• Autosomal recessive cerebellar ataxia-psychomotor delay syndrome

• Ataxia-oculomotor apraxia type 4

• Gemignani syndrome, a.k.a.  spinocerebellar ataxia-amyotrophy-deafness syndrome

• Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS)

• Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome, aka spinocerebellar ataxia, autosomal recessive 21 (SCAR21)

• Autosomal recessive ataxia due to ubiquinone deficiency

• Adult-onset autosomal recessive cerebellar ataxia

• Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia

• Infantile-onset autosomal recessive nonprogressive cerebellar ataxia, a.k.a.  spinocerebellar ataxia, autosomal recessive 6 (SCAR6)

• Spectrin-associated autosomal recessive cerebellar ataxia

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

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

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

• Autosomal recessive cerebellar ataxia due to STUB1 deficiency