Publication | Open Access

A recurrent de novo missense pathogenic variant in SMARCB1 causes severe intellectual disability and choroid plexus hyperplasia with resultant hydrocephalus

Mendelian DisorderChoroid Plexus HyperplasiaGenetic DisorderGeneticsInherited Metabolic DiseaseResultant HydrocephalusPathologyDegenerative DiseaseMissense Pathogenic VariantNeurologyDisease Gene IdentificationNeuropathologyMedicine