Gould syndrome is a highly variable multisystem disorder caused by COL4A1 and COL4A2 mutations, whose clinical presentation can vary widely between and within families ranging from asymptomatic COL4A1/COL4A2 mutation carriers to severely disabled individuals (Guey and Hervé, 2022). Here, COL4A1 is linked to COL4A1/A2-related disorder.