The detail information of Ataxia, spinocerebellar, SLC12A6-related
OMIA Basic Information

Possible human homologues (MIM numbers):

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Year key mutation first reported: 2019

Species-specific name: -

Species-specific symbol: -

More detail information can see in

Associated Breeds
There are associated breeds.
Associated Gene
There are no associated genes.
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
2019 VanPoucke,M.,Stee,K.,Sonck,L.,Stock,E.,Bosseler,L.,VanDorpe,J.,VanNieuwerburgh,F.,Deforce,D.,Peelman,L.J.,VanHam,L.,Bhatti,S.F.M.,Broeckx,B.J.G.: :
Truncating SLC12A6 variants cause different clinical phenotypes in humans and dogs. Eur J Hum Genet 27:1561-1568, 2019.
Pubmed reference: 31160700 . DOI: 10.1038/s41431-019-0432-3 .