A recurrent de novo missense pathogenic variant in SMARCB1 causes severe intellectual disability and choroid plexus hyperplasia with resultant hydrocephalus. - Diets IJ; Prescott T; Champaigne NL; Mancini GMS; Krossnes B; Frič R; Kocsis K; Jongmans MCJ; Kleefstra T (Genetics in medicine : official journal of the American College of Medical Genetics, 2019)