We also identified four patients with likely pathogenic variants, including PDHA1 causing Pyruvate dehydrogenase E1-alpha deficiency, JAM3 causing hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts (HDBSCC) with the neonatal onset and COL18A1 gene causing Knobloch syndrome, type 1. The gene discussed is COL18A1; the disease is Knobloch syndrome 1.