Clinical Phenotype in Individuals With Birk-Landau-Perez Syndrome Associated With Biallelic Pathogenic Variants.

Background And Objectives: Birk-Landau-Perez syndrome is a genetic disorder caused by biallelic pathogenic variants in 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 -related disease.