Fig. 1

Schematic representation of variant locations in HSD3B7 from 39 children with biochemically confirmed HSD3B7 deficiency. A total of 44 variants were identified. Each arrow represents one variant. Variants detected in patients presenting as neonatal cholestasis are shown on the top and variants detected in those patients with late onset occurrence of the disease are shown on the bottom. Variants from patients that underwent liver transplantation, or died are marked with †, and variants from patients with renal lesions are marked with ‡. Pathogenic or likely pathogenic variants are shown in red and variants with uncertain significance in blue