AICA-ribosiduria is an extremely severe inborn error of purine biosynthesis characterized clinically in the single reported case to date by profound intellectual deficit, epilepsy, dysmorphic features of the knees, elbows, and shoulders and congenital blindness. The disease is AICA-ribosiduria (Monarch Disease Ontology identifier MONDO_0012099). Also known as: 5-amino-4-imidazole carboxamide ribosiduria, AICA-ribosiduria due to ATIC deficiency, ATIC deficiency.