Condition: Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2


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.