Syndrome of psychomotor retardation, bulbous nose, and epilepsy.
D002648:Child; D004827:Epilepsy / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D009666:Nose / Q000002:abnormalities*; D010375:Pedigree; D013577:Syndrome