P487: Expanding the phenotype: A novel case of VPS45 deficiency with HLH and progressive neurological involvement

anomaly.He was found to have syndactyly over his left hand between the first and the second fingers, and bilateral club feet.His echocardiogram showed transverse arch hypoplasia, bicuspid aortic valve, VSD, ASD, and PDA.Diagnostic Workup: His 7-dehydrocholesterol level was normal.His SNV array identified a pathogenic 3.75 Mb deletion within chromosome 9q34.3consistent with the diagnosis of 9q34.3 deletion syndrome or Kleefstra syndrome 1 (OMIM 610253).