Infantile type of homocystinuria with 5,10-methylenetetrahydrofolate reductase deficiency.
D001049:Apnea / Q000235:genetics; D001921:Brain / Q000201:enzymology; D003241:Consanguinity; D005260:Female; D005808:Genes, Recessive; D006580:Genetic Carrier Screening; D006712:Homocystinuria / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000235:genetics*; D008607:Intellectual Disability / Q000235:genetics; D007668:Kidney / Q000201:enzymology; D007962:Leukocytes / Q000201:enzymology; D008099:Liver / Q000201:enzymology; D008754:Methylenetetrahydrofolate Dehydrogenase (NADP) / Q000172:deficiency*; D010088:Oxidoreductases / Q000172:deficiency*; D012640:Seizures / Q000235:genetics; D013577:Syndrome
D010088:Oxidoreductases; D008754:Methylenetetrahydrofolate Dehydrogenase (NADP)