ZFIN Human Disease: autosomal recessive spinocerebellar ataxia 6

OBO ID: DOID:0111617

Term Name:	autosomal recessive spinocerebellar ataxia 6		Search Ontology:
Synonyms:	autosomal recessive spinocerebellar ataxia type 6 infantile-onset autosomal recessive nonprogressive cerebellar ataxia SCAR6
Definition:	An autosomal recessive cerebellar ataxia characterized by onset in infancy of nonprogressive cerebellar ataxia without intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 20q11-q13. (2)
References:	GARD:4954 MESH:C537312 OMIM:608029 ORDO:284332 SNOMEDCT_US_2023_03_01:785300001 UMLS_CUI:C1842676
Ontology:	Human Disease ( DOID:0111617 )

Relationships

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

OTHER autosomal recessive spinocerebellar ataxia 6 PAGES

Alliance (1)

GENES INVOLVED No data available

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None