Congenital Adrenal HyperplasiaFamilial Hyperinsulinemic Hypoglycemia 1Phosphoglucomutase 1 DeficiencyMaturity Onset Diabetes of the YoungCystic FibrosisHypophosphatasia, InfantileCongenital HypothyroidismDeficit in Anterior Pituitary Function and Variable ImmunodeficiencyPituitary Hormone Deficiency, CombinedDiamond Blackfan AnemiaWiskott-Aldrich SyndromeFanconi AnemiaHemophilia AHemophilia BGlucose 6 Phosphate Dehydrogenase DeficiencyAlpha-ThalassemiaSickle Cell DiseaseShwachman-Diamond SyndromeAlpha 1-Antitrypsin DeficiencyInflammatory Bowel Disease 25, Autosomal RecessiveWilson DiseaseProgressive Familial Intrahepatic CholestasisCrigler-Najjar SyndromeFamilial ChylomicronemiaLysosomal Acid Lipase DeficiencyFamilial Hemophagocytic LymphocytosisGriscelli SyndromeChediak-Higashi SyndromeSevere Congenital NeutropeniaSevere Combined Immune DeficiencyChronic Granulomatous DiseaseMenkes DiseaseAdrenoleukodystrophySmith-Lemli-Opitz SyndromeAtaxia With Vitamin E DeficiencyThiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration and Progressive Polyneuropathy Type)Thiamine-Responsive Megaloblastic AnemiaThiamine Metabolism Dysfunction Syndrome 2Deficiency of GOT2Cerebral Folate Transport DeficiencySegawa Syndrome, Autosomal RecessiveCongenital Myasthenic SyndromeMetachromatic LeukodystrophySepiapterin Reductase DeficiencyDopamine Beta Hydroxylase DeficiencyGlut1 Deficiency SyndromeLate-Infantile Neuronal Ceroid LipofuscinosisAromatic L-amino Acid Decarboxylase DeficiencyCharcot-Marie-Tooth Disease, Type 6CHereditary HyperekplexiaBrain Dopamine-Serotonin Vesicular Transport DiseaseVery Long Chain Hydroxy Acyl Dehydrogenase DeficiencyTyrosinemia, Type IDisaccharide Intolerance IBeta Ketothiolase DeficiencyPhosphoglycerate Dehydrogenase DeficiencySuccinyl-Coa:3-Ketoacid Coa-Transferase DeficiencyPyridoxine-5'-Phosphate Oxidase DeficiencyPyridoxine-Dependent EpilepsyPropionic AcidemiaPompe DiseasePhenylalanine Hydroxylase DeficiencyOrnithine Transcarbamylase DeficiencyN Acetyl Glutamate Synthetase DeficiencyRiboflavin DeficiencyMaple Syrup Urine DiseaseMedium Chain Acyl CoA Dehydrogenase DeficiencyMalonic AcidemiaLong-chain 3-hydroxyacyl-CoA Dehydrogenase DeficiencyIsovaleric AcidemiaPhosphoserine Aminotransferase DeficiencyPhosphoserine Phosphatase DeficiencyHyperornithinemia-Hyperammonemia-HomocitrullinuriaS-Adenosylhomocysteine Hydrolase DeficiencyMucopolysaccharidosis VIIMucopolysaccharidosis VIMucopolysaccharidosis IV AMucopolysaccharidosis IIMucopolysaccharidosis ITranscobalamin DeficiencyIsolated Methylmalonic AcidemiaCobalamin DeficiencyHomocystinuriaHolocarboxylase Synthetase DeficiencyFanconi Bickel SyndromeGlycogen Storage DiseaseGlycine EncephalopathyGlutaric Acidemia IGlucose Galactose MalabsorptionGaucher Disease, Type 1GalactosemiasFructosemiaFructose-1,6-Diphosphatase DeficiencyCarbamoyl Phosphate Synthase 1 DeficiencyCitrullinemia Type IICitrullinemia 1Creatine Deficiency SyndromeSystemic Primary Carnitine DeficiencyCarnitine Palmitoyltransferase Deficiency 2Carnitine Palmitoyltransferase Deficiency 1Carnitine Acylcarnitine Translocase DeficiencyRiboflavin Transporter DeficiencyBranched-Chain Keto Acid Dehydrogenase Kinase DeficiencyAndersen Tawil SyndromeTimothy SyndromeJervell-Lange Nielsen SyndromeCatecholaminergic Polymorphic Ventricular TachycardiaFamilial Hypertrophic Cardiomyopathy Type 4Pseudohypoaldosteronism, Type IIPseudohypoaldosteronism Type 1Primary HyperoxaluriaX Linked HypophosphatemiaHereditary Nephrogenic Diabetes InsipidusCystinosisCongenital Nephrotic Syndrome, Finnish TypeAlport SyndromeHereditary RetinoblastomaBiotinidase DeficiencyAciduria, ArgininosuccinicArgininemiaAcyl-CoA Dehydrogenase Family, Member 9, Deficiency of3-Hydroxy 3-Methyl Glutaric Aciduria3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency