SCYL1 and skeletal dysplasia: Interestingly, two subjects reportedin this study have short stature and one has skeletal dysplasia, which has beenpreviously associated with SCYL1 deficiency.32 These clinical features are reminiscent of NBAS deficiencydelineating a further link between these two diseases affecting the retrogradeintracellular transport.14,15 The phenotypic spectrum of SCYL1 deficiency will be further clarifiedby the identification of new patients and their detailed clinical characterizationand follow-up.