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Up to: Developmental anomaly of metabolic origin · Congenital nervous system disorder · Hereditary macular dystrophy · Multiple congenital anomalies/dysmorphic syndrome-intellectual disability · Inborn disorder of purine metabolism
AICA-ribosiduria
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.
This condition has no sub-types.