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229100
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FORMIMINOTRANSFERASE DEFICIENCY
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Nervous System Diseases
Central Nervous System Diseases
Brain Diseases
Epilepsy
Neurologic Manifestations
Neurobehavioral Manifestations
Intellectual Disability
Male Urogenital Diseases
Urologic Diseases
Kidney Diseases
Renal Tubular Transport, Inborn Errors
Renal Aminoacidurias
Female Urogenital Diseases and Pregnancy Complications
Female Urogenital Diseases
Urologic Diseases
Kidney Diseases
Renal Tubular Transport, Inborn Errors
Renal Aminoacidurias
Hemic and Lymphatic Diseases
Hematologic Diseases
Anemia
Anemia, Macrocytic
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases, Inborn
Metabolism, Inborn Errors
Amino Acid Metabolism, Inborn Errors
Purine-Pyrimidine Metabolism, Inborn Errors
Renal Tubular Transport, Inborn Errors
Renal Aminoacidurias
Nutritional and Metabolic Diseases
Metabolic Diseases
Metabolism, Inborn Errors
Amino Acid Metabolism, Inborn Errors
Purine-Pyrimidine Metabolism, Inborn Errors
Renal Tubular Transport, Inborn Errors
Renal Aminoacidurias
Nutrition Disorders
Malnutrition
Deficiency Diseases
Avitaminosis
Vitamin B Deficiency
Folic Acid Deficiency
Vitamin B 12 Deficiency
Pathological Conditions, Signs and Symptoms
Signs and Symptoms
Neurologic Manifestations
Neurobehavioral Manifestations
Intellectual Disability
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