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Symptoms:

    


DiseasesRatingBibliogr.Expand
1Glucosephosphate Dehydrogenase Deficiency100+ 
2Anemia, Hemolytic, Congenital Nonspherocytic64+ 
3Dihydropyrimidine Dehydrogenase Deficiency25+ 
4Pyruvate Dehydrogenase Complex Deficiency Disease19+ 
5Anemia, Hemolytic, Congenital19+ 
6Lipid Metabolism, Inborn Errors18+ 
7Metabolism, Inborn Errors15+ 
8Multiple Acyl Coenzyme A Dehydrogenase Deficiency14+ 
9Anemia, Hemolytic12+ 
10Disease9+ 
11Deficiency Diseases6+ 
12Favism6+ 
13Hemolysis5+ 
14Purine-Pyrimidine Metabolism, Inborn Errors5+ 
15Amino Acid Metabolism, Inborn Errors5+ 
16Reye Syndrome5+ 
17Acidosis, Lactic4+ 
18Brain Diseases, Metabolic, Inborn4+ 
19Metabolic Diseases4+ 
20Acidosis4+ 
21Vitamin B 12 Deficiency3+ 
22Sudden Infant Death3+ 
23Muscular Diseases3+ 
24Hypoglycemia3+ 
25Mitochondrial Diseases3+ 
26Brain Diseases, Metabolic3+ 
27Muscle Hypotonia3+ 
28alpha 1-Antitrypsin Deficiency3+ 
29IgA Deficiency3+ 
30Ketosis3+ 
31Seizures2+ 
32Fatty Liver2+ 
33Myoglobinuria2+ 
34Hyperbilirubinemia2+ 
35Adrenal Hyperplasia, Congenital2+ 
36Leigh Disease2+ 
37Mitochondrial Myopathies2+ 
38Protein C Deficiency2+ 
39Rhabdomyolysis2+ 
40Kernicterus2+ 
41Disorders of Sex Development2+ 
42Hirsutism2+ 
43Protein S Deficiency2+ 
44Jaundice, Neonatal2+ 
45Hepatitis A2+ 
46Peroxisomal Disorders1+ 
47Maple Syrup Urine Disease1+ 
48Factor VII Deficiency1+ 
49Immunologic Deficiency Syndromes1+ 
50Genetic Predisposition to Disease1+ 
51Vitamin A Deficiency1+ 
52Diseases in Twins1+ 
53Cardiomyopathies1+ 
54Pyruvate Metabolism, Inborn Errors1+ 
55Methemoglobinemia1+ 
56IgG Deficiency1+ 
57Developmental Disabilities1+ 
58Psychomotor Disorders1+ 
59Factor XI Deficiency1+ 
60Vitamin D Deficiency1+ 
61Factor X Deficiency1+ 
62Spherocytosis, Hereditary1+ 
63Gangliosidosis, GM11+ 
64Spasms, Infantile1+ 
65Folic Acid Deficiency1+ 
66Antithrombin III Deficiency1+ 
67Movement Disorders1+ 
68Muscle Weakness1+ 
69Vitamin K Deficiency1+ 
70Nervous System Diseases1+ 
71Hepatomegaly1+ 
72Factor V Deficiency1+ 
73Gynecomastia1+ 
74Infant, Newborn, Diseases1+ 
75Ornithine Carbamoyltransferase Deficiency Disease1+ 
76Factor XIII Deficiency1+ 
77Factor XII Deficiency1+ 
78Thiamine Deficiency1+ 
79Cytochrome-c Oxidase Deficiency1+ 
80Intellectual Disability1+ 
81Biotinidase Deficiency1+ 
82Vitamin B Deficiency1+ 
83Death, Sudden1+ 
84Microcephaly1+ 
85Acute Disease1+ 
86Vitamin E Deficiency1+ 
87Fructose-1,6-Diphosphatase Deficiency1+ 
88Recurrence1+ 
89Brain Diseases1+ 
90Dysgammaglobulinemia1+ 
91Anemia, Iron-Deficiency1+ 
92Carbohydrate Metabolism, Inborn Errors1+ 

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