Autosomal recessive cerebellar ataxia

Autosomal recessive cerebellar ataxia (Orphanet 3711) 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

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*[a.k.a.]: also known as