ZFIN Human Disease: autosomal recessive spinocerebellar ataxia 8

OBO ID: DOID:0111618

Term Name:	autosomal recessive spinocerebellar ataxia 8		Search Ontology:
Synonyms:	ARCA1 autosomal recessive ataxia, Beauce type Autosomal recessive cerebellar ataxia type 1 recessive ataxia of Beauce SCAR8 SYNE1-related autosomal recessive cerebellar ataxia
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. (2)
References:	GARD:12234 MESH:C565188 OMIM:610743 ORDO:88644 UMLS_CUI:C1853116
Ontology:	Human Disease ( DOID:0111618 )

Relationships

is a type of:	autosomal recessive cerebellar ataxia autosomal recessive cerebellar ataxia Show first 5 Terms

OTHER autosomal recessive spinocerebellar ataxia 8 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
SYNE1	syne1b syne1a	Spinocerebellar ataxia, autosomal recessive 8	610743

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None