Clinical phenotype in individuals with Birk-Landau-Perez Syndrome associated with biallelic SLC30A9 pathogenic variants | Steel DB, et al | Neurology | May 2023

Nonacus products: Germline

Abstract

Birk-Landau-Perez syndrome is a genetic disorder caused by biallelic pathogenic variants in SLC30A9 presenting with a complex movement disorder, developmental regression, oculomotor abnormalities, and renal impairment. It has previously been reported in 2 families. We describe the clinical phenotype of 8 further individuals from 4 unrelated families with SLC30A9-related disease.