We identified seven patients with heterozygous variants in the following genes (associated autosomal dominant disorders are shown in parentheses): KCNQ2 (early infantile epileptic encephalopathy 7, three patients), CHD2 (nemaline myopathy), COL4A1 (cerebral small vessel disease), and SOX10 (Waardenburg syndrome-Hirschsprung’s disease). This evidence concerns the gene COL4A1 and nemaline myopathy.