autosomal recessive cerebellar ataxia 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 this article is issued from wikipedia. the text is licensed under creative commons - attribution - sharealike. additional terms may apply for the media files.