Figure 2: Intrafamilial genotypic and phenotypic variability in HOU2337.
From: Phenotypic expansion illuminates multilocus pathogenic variation
Pedigree structure of family HOU2337. Both affected siblings share a hemizygous variant in BCOR; the proband (BAB6228) has additional homozygous variants in MED17 and SPG7, resulting in a more severe phenotype due to the additional mutational burden. agCC, agenesis of the corpus callosum; Cort, cortical.
