FOXC1 and Abnormal heart morphology: In our cohort, 3 families (GEL-048, GEL-S02, and GEL-S09) harboured heterozygous autosomal dominant variants in FOXC1, one of which had a clinical diagnosis of PCG (GEL-S02), while the remaining 2 cases had ARS associated with CG, hearing impairment, and congenital heart defects (in GEL-048), and glaucoma with myopia and skeletal anomalies characterised by flat feet and abnormal shoulder positioning (in GEL-S09).