To test whether intragenic mutations in NFIA are associated with abnormal callosal development and other CNS phenotypes, we sequenced the 11 exons and intron-exon boundaries of NFIA in 84 patients with various combinations of syndromic CNS phenotypes, including abnormal corpus callosum, tethered spinal cord, Chiari I malformation, hydrocephalus, and urinary tract defects (Table S2). The gene discussed is NFIA; the disease is Hydrocephalus.