Extra‐CNS involvement is also common in COL4A1 patients, featuring ocular anomalies (e.g., cataracts, anterior segment dysgenesis, retinal vascular tortuosity), intracranial calcifications, and myopathy mimicking congenital muscular dystrophy or Walker‐Warburg syndrome [20, 23, 24, 25]. The gene discussed is COL4A1; the disease is myopathy.