Clinical Phenotype in Individuals With Birk-Landau-Perez Syndrome Associated With Biallelic SLC30A9 Pathogenic Variants.
Dora Batia Dyne SteelFederica Rachele DantiMohamed AbunadaBenjamin KamienSony MalhotraAndriy KryshtafovychMarios KaliakatsosJane ValentineAndrea Hilary NemethSandeep JayawantKimberley M ReidKshitij MankadSniya SudhakarHilla Ben-PaziKaty BarwickManju A KurianPublished in: Neurology (2023)
cause a progressive autosomal recessive neurological syndrome associated with a complex hyperkinetic movement disorder. Our report highlights the expanding disease phenotype, which can present with a wider spectrum of severity than has previously been recognised.