autosomal recessive spinocerebellar ataxia 6

Term ID

DOID:0111617

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 )