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.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0002320
congenital nervous system disorder
is_a
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
MONDO:0015327
developmental anomaly of metabolic origin
is_a
MONDO:0019236
inborn disorder of purine metabolism
is_a
MONDO:0020242
hereditary macular dystrophy
is_a
5-amino-4-imidazole carboxamide ribosiduria
exact
AICA-ribosiduria due to ATIC deficiency
exact
ATIC deficiency
exact
SPCPB16A4.03c