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GENATLAS PHENOTYPE
last update : 13/06/2006
Symbol AICAR
Location 2q35
Name AICA-ribosiduria
Corresponding gene ATIC
Main clinical features
  • profound mental retardation, epilepsy, dysmorphic features, (brachycephaly, wide mouth, prominent clitoris) congenital blindness
  • Genetic determination autosomal recessive
    Function/system disorder congenital malformation
    metabolism/purine or pyrimidine
    Type disease
    Gene product
    Name 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase