Fig. 2AFrom: Genotype-phenotype correlations of STXBP1 pathogenic variants and the treatment choices for STXBP1-related disorders in ChinaPedigree map of patient 5 (P5) and patient 6 (P6) with p.R292C pathogenic variant. Squares represent males, circles represent females, filled squares and circles represent individuals affected, and circle with a small dot inside represent maternal mosaicism of the p.R292C pathogenic variantBack to article page