Figure 1: Intrafamilial genotypic and phenotypic variability in HOU2293.
From: Phenotypic expansion illuminates multilocus pathogenic variation
Pedigree structure of family HOU2293. Both affected siblings share a homozygous variant in MCPH1; however, the proband (BAB3640) has additional homozygous variants in ALG8 and CLN5, resulting in a more severe blended phenotype. DD/ID, developmental delay/intellectual disability.
