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
- Dysequilibrium syndrome
- Joubert syndrome
- Joubert syndrome with hepatic defect
- Orofaciodigital syndrome type 6
- Abetalipoproteinemia
- Refsum disease
- Cerebrotendinous xanthomatosis
- Infantile Refsum disease
- Ataxia-telangiectasia
- Ataxia-oculomotor apraxia type 1
- Spinocerebellar ataxia with axonal neuropathy type 2
- Xeroderma pigmentosum
- RIDDLE syndrome
- Friedreich ataxia
- Marinesco-Sjögren syndrome
- , a.k.a. spinocerebellar ataxia, autosomal recessive 3 (SCAR3)
- , a.k.a. spinocerebellar ataxia-amyotrophy-deafness syndrome
- Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS)
- , aka spinocerebellar ataxia, autosomal recessive 21 (SCAR21)
- , a.k.a. spinocerebellar ataxia, autosomal recessive 6 (SCAR6)
Categories:
- Set indices