has material basis in germline mutation in ATIC syndromic intellectual disability congenital nervous system disorder AICA-ribosiduria https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 https://www.malacards.org/card/aica_ribosiduria_due_to_atic_deficiency Aica-Ribosuria due to Atic deficiency 5-amino-4-imidazole carboxamide ribosiduria GARD:0013781 MESH:C563876 Atic deficiency MEDGEN:332474 AICAR transformylase/IMP cyclohydrolase deficiency UMLS:C1837530 SCTID:725289009 ATIC deficiency Orphanet:250977 OMIM:608688 MONDO:0012099 AICA-ribosiduria due to ATIC deficiency 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. multiple congenital anomalies/dysmorphic syndrome-intellectual disability developmental anomaly of metabolic origin inborn disorder of purine metabolism hereditary macular dystrophy