Fig. 3

Segregation results and AOH plots of patients with variants in MLLT1, KDM2B, FOXP4, and KIF5B. In each panel, the segregation results are shown to the left and AOH plots on the corresponding chromosomes are shown to the right. a In family 058, the proband (BAB6950) has developmental delay, hypotonia, and infantile spasms with diffuse brain atrophy, delay and hypomyelination, as well as malformation of cortical development. A homozygous variant in MLLT1 (NM_005934.3:c.1418G > A:p.Arg473Gln) is identified and segregates with the phenotypes in the family. b In family 009, the proband (BAB6693) has developmental delay, hypotonia, and infantile spasms. A homozygous variant in KDM2B (NM_032590.4:c.3050G > A:p.Arg1017His) is identified and segregates with the phenotypes in the family. c In family 028, the proband (BAB6800) exhibits developmental delay, laryngeal hypoplasia, and ventricular septal defect (VSD). A homozygous variant in FOXP4 (NM_001012426.1:c.815delT:p.Lys272fs) is identified and segregates in the family. d In family 015, the proband (BAB6712) has developmental delay, seizures, increased reflexes in upper and lower extremities, short stature with mild diffuse brain atrophy, and thinning of the corpus callosum. The younger brother (BAB6713) is mildly affected with speech delay. A homozygous variant in KIF5B (NM_004521.2:c.2252A > G:p.His751Arg) is identified and segregates with the phenotypes in the family, present in a homozygous state in both brothers