SIL1 and Cerebellar atrophy: The 3 patients with no SIL1 mutation (Patients 25, 26, and 27) and the 9 genetically unexamined patients showed clinical features indistinguishable from the patients with SIL1 mutations, including cerebellar signs with cerebellar atrophy on brain images, intellectual disability, congenital cataracts, and muscle weakness.