An oculocerebral syndrome with aminoaciduria and keratosis follicularis.
D002386:Cataract; D002675:Child, Preschool; D007644:Darier Disease; D005901:Glaucoma / Q000151:congenital; D006801:Humans; D008607:Intellectual Disability; D007908:Lens, Crystalline; D008297:Male; D008382:Marfan Syndrome; D008854:Microscopy, Electron; D000608:Renal Aminoacidurias; D012867:Skin / Q000473:pathology