Summary Literature (0)

DOID:0111618 - autosomal recessive spinocerebellar ataxia 8

Disease Ontology Definition:An autosomal recessive cerebellar ataxia characterized by slowly progressive neurodegeneration resulting in gait ataxia and other cerebellar signs, spasticity, secondary musculoskeletal abnormalities, and ocular movement anomalies that has_material_basis_in homozygous or compound heterozygous mutation in SYNE1 on chromosome 6q25.2.

Synonyms: ARCA1, autosomal recessive ataxia, Beauce type, Autosomal recessive cerebellar ataxia type 1, recessive ataxia of Beauce, SCAR8, SYNE1-related autosomal recessive cerebellar ataxia

Xenbase Genes : syne1


MIM:

MIM:610743 - SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8; SCAR8

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee