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