Variant: rs587776906

present in Gene: WDR81 present in Chromosome: 17 Position on Chromosome: 1727526 Alleles of this Variant: C/T

rs587776906 in WDR81 gene and Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 PMID 21885617 2011 Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred.

PMID 26437881 2016 Clinical and molecular delineation of dysequilibrium syndrome type 2 and profound sensorineural hearing loss in an inbred Arab family.