Fig. 2

Pedigrees depicting inheritance of pathogenic and likely pathogenic HK1 variants (n = 65 families). Squares, males; circles, females; diamonds, unknown sex; filled black symbols, clinical diagnosis of hyperinsulinism; filled grey symbols, anecdotal evidence of hypoglycaemia; diagonal line through symbol, deceased; M, HK1 variant; N, no variant; *, obligate heterozygote; NA, DNA not available. The arrow indicates the proband in larger pedigrees