Table 4 Correlation of genotype and phenotype in patients with HSD3B7 deficiency
Biallelic null variants (n = 12) | Single null variant (n = 15) | Biallelic non-null variants (n = 12) | Total (39) | Analysis (Spearman correlation) | |
|---|---|---|---|---|---|
Group by onset age | |||||
Neonatal cholestasis | 9 (75%) | 12 (80%) | 11 (92%) | 32 (82%) | rs = 0.170, p = 0.300 |
Childhood onset | 3 (25%) | 3 (20%) | 1 (8%) | 7 (18%) | |
Clinical outcome | |||||
Native liver survivors | 8 (67%) | 12 (80%) | 7 (58%) | 27 (69%) | rs=-0.071, p = 0.668 |
Liver transplanted or death | 4 (33%) | 3 (20%) | 5 (42%) | 12 (30%) | |