Early Check: Expanded Screening in Newborns

Spinal Muscular Atrophy 17 Alpha-Hydroxylase Deficiency 3-Hydroxy-3-Methylglutaric Aciduria 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency 3-Hydroxyacyl-CoA Dehydrogenase Deficiency 3-Methylcrotonyl CoA Carboxylase 1 Deficiency 3-Methylcrotonyl CoA Carboxylase 2 Deficiency 3-Phosphoglycerate Dehydrogenase Deficiency Abnormalities, Multiple Acidemia, isovaleric Acrodermatitis Enteropathica Adenine Phosphoribosyltransferase Deficiency Adrenal hyperplasia, congenital, type 5 Adrenocorticotropic Hormone Deficiency Adrenoleukodystrophy, Neonatal Agat Deficiency Albinism Albinism, Oculocutaneous Alport Syndrome, Autosomal Recessive Alport Syndrome, X-Linked Amaurosis congenita of Leber, type 2 Amino Acid Metabolism, Inborn Errors Anemia Anemia, Hemolytic Anemia, Hemolytic, Congenital Anemia, Sickle Cell Angelman Syndrome Aortic Stenosis, Supravalvular Aortic Valve Disease Aortic Valve Stenosis Apparent Mineralocorticoid Excess Arginine-Glycine Amidinotransferase Deficiency Argininosuccinic Aciduria Arrhythmias, Cardiac Ataxia With Isolated Vitamin E Deficiency Ataxia with vitamin E deficiency Autosomal Recessive Nonsyndromic Hearing Loss Avitaminosis Barth Syndrome Basal Ganglia Diseases Basal ganglia disease, biotin-responsive Beta ketothiolase deficiency Beta-Thalassemia Beta-ketothiolase Deficiency Bile acid synthesis defect, congenital, 2 Biotin-Responsive Basal Ganglia Disease Biotinidase Deficiency Blood Coagulation Disorders Blood Coagulation Disorders, Inherited Blood Platelet Disorders Bone Diseases Bone Diseases, Developmental Bone Diseases, Endocrine Bone Diseases, Metabolic Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Brown-Vialetto-Van Laere syndrome CBAS1 Calcium Metabolism Disorders Canavan Disease Carbamoyl Phosphate Synthetase I Deficiency Disease Carbamoyl-Phosphate Synthase I Deficiency Disease Carbohydrate Metabolism, Inborn Errors Carbonic Anhydrase VA Deficiency Cardiac Conduction System Disease Cardiovascular Abnormalities Cardiovascular Diseases Carnitine Palmitoyl Transferase 1A Deficiency Carnitine Palmitoyltransferase II Deficiency Carnitine palmitoyl transferase 2 deficiency Carnitine-Acylcarnitine Translocase Deficiency CblF Central Hypoventilation Syndrome With or Without Hirschsprung Disease Central Nervous System Diseases Cerebrotendinous Xanthomatoses Cholesterol Ester Storage Disease Choroid Diseases Chromosome Disorders Chronic Disease Chronic Granulomatous Disease Citrullinemia Citrullinemia, Type I Coagulation Protein Disorders Collagen Diseases Combined Immunodeficiency Due to ZAP70 Deficiency Congenital Abnormalities Congenital Bile Acid Synthesis Defect Type 2 Congenital Disorder of Glycosylation Type 1B Congenital Hyperinsulinism Congenital Hypothyroidism Congenital Isolated Thyroid Stimulating Hormone Deficiency Congenital Lipoid Adrenal Hyperplasia Due to STAR Deficiency Congenital, Hereditary, and Neonatal Diseases and Abnormalities Connective Tissue Diseases Creatine Transporter Deficiency Creatine deficiency, X-linked Cystic Fibrosis Cystinosis DIAR1 Deficiency Diseases Demyelinating Diseases Developmental and Epileptic Encephalopathy 2 Diabetes Mellitus Diabetes Mellitus, Permanent Neonatal Diabetes Mellitus, Permanent Neonatal, With Neurologic Features Digestive System Diseases Dihydropteridine Reductase Deficiency Disease Disease Attributes Dravet Syndrome Duchenne Muscular Dystrophy Dwarfism Dyslipidemias Endocrine Gland Neoplasms Endocrine System Diseases Epilepsies, Myoclonic Epilepsy Epilepsy, Early-Onset, Vitamin B6-Dependent Epilepsy, Generalized Epileptic Syndromes Eye Diseases Eye Diseases, Hereditary Eye Neoplasms Factor VII Deficiency Factor X Deficiency Familial Hypophosphatemic Rickets Female Urogenital Diseases Female Urogenital Diseases and Pregnancy Complications Fragile X - Premutation Fragile X Syndrome Fructose 1,6 Bisphosphatase Deficiency Fructose Intolerance Fructose Metabolism, Inborn Errors Fructose-1,6-Diphosphatase Deficiency G6PD Deficiency GSD1C Galactokinase Deficiency Galactosemias Genetic Diseases, Inborn Genetic Diseases, X-Linked Glucose Metabolism Disorders Glucose Transporter Type 1 Deficiency Syndrome Glucosephosphate Dehydrogenase Deficiency Glut1 Deficiency Syndrome Glutaric Acidemia I Glutaryl-CoA Dehydrogenase Deficiency Glutathione Synthetase Deficiency Glycogen Storage Disease Glycogen Storage Disease IB Glycogen Storage Disease IC Glycogen Storage Disease II Glycogen Storage Disease IXB Glycogen Storage Disease IXC Glycogen Storage Disease Type I Glycogen Storage Disease Type IB Glycogen Storage Disease Type II Glycogen Storage Disease Type IXA1 Glycogen Storage Disease, Type IXA2 Granulomatous Disease, Chronic Gtp Cyclohydrolase I Deficiency Guanidinoacetate Methyltransferase Deficiency Gyrate Atrophy HHH syndrome HSDB Hair Diseases Heart Defects, Congenital Heart Diseases Heart Valve Diseases Hematologic Diseases Hemic and Lymphatic Diseases Hemoglobinopathies Hemophilia A Hemophilia B Hemorrhagic Disorders Hepatolenticular Degeneration Hereditary Central Nervous System Demyelinating Diseases Hereditary Fructose Intolerance Hereditary Hypophosphatemic Rickets Heredodegenerative Disorders, Nervous System Hermanski-Pudlak Syndrome Hermansky-Pudlak Syndrome 1 Hermansky-Pudlak Syndrome 4 Histiocytosis Histiocytosis, Non-Langerhans-Cell Holocarboxylase Synthetase Deficiency Homocystinuria Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type Hyperargininemia Hyperhomocysteinemia Hyperinsulinemic Hypoglycemia, Familial 1 Hyperinsulinemic Hypoglycemia, Familial, 2 Hyperinsulinemic hypoglycemia, familial, 6 Hyperinsulinism Hyperinsulinism-Hyperammonemia Syndrome Hyperparathyroidism, Neonatal Severe Primary Hyperphenylalaninemia, BH4-Deficient, B Hypoglycemia Hypophosphatasia Hypophosphatemia Hypophosphatemia, Familial Hypopigmentation Hypothyroidism Hypothyroidism Due to TSH Receptor Mutations Immune System Diseases Immunologic Deficiency Syndromes Imprinting Disorders Infant, Newborn, Diseases Intellectual Disability Intrinsic Factor Deficiency Isovaleric Acidemia Jervell And Lange-Nielsen Syndrome 2 Jervell and Lange-Nielsen Syndrome 1 Jervell-Lange Nielsen Syndrome Kidney Diseases Krabbe Disease Leber Congenital Amaurosis 2 Leukocyte Disorders Leukodystrophy, Globoid Cell Leukodystrophy, Metachromatic Leukoencephalopathies Liddle Syndrome Lipid Metabolism Disorders Lipid Metabolism, Inborn Errors Lipidoses Liver Diseases Long QT Syndrome Long-chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency Lung Diseases Lymphatic Diseases Lysosomal Acid Lipase Deficiency Lysosomal Storage Diseases Lysosomal Storage Diseases, Nervous System MAHCD MOWS Male Urogenital Diseases Malnutrition Maple Syrup Urine Disease, Type 1A Maple Syrup Urine Disease, Type 1B Maple Syrup Urine Disease, Type 2 Maturity-Onset Diabetes of the Young, Type 4 Medium chain acyl CoA dehydrogenase deficiency Medium-chain Acyl-CoA Dehydrogenase Deficiency Menkes Disease Menkes Kinky Hair Syndrome Mental Disorders Metabolic Diseases Metabolism, Inborn Errors Metachromatic Leukodystrophy Metal Metabolism, Inborn Errors Methylcobalamin Deficiency Type Cbl G (Disorder) Methylcobalamin Deficiency Type cblE Methylenetetrahydrofolate reductase deficiency Methylmalonic Aciduria Due to Methylmalonyl-CoA Mutase Deficiency Methylmalonic Aciduria and Homocystinuria Type cblC Methylmalonic Aciduria cblA Type Methylmalonic Aciduria cblB Type Methylmalonic acidemia with homocystinuria Mineralocorticoid Excess Syndrome, Apparent Mitochondrial Diseases Mitochondrial Trifunctional Protein Deficiency Molybdenum Cofactor Deficiency, Complementation Group A Molybdenum Cofactor Deficiency, Type A Motor Neuron Disease Movement Disorders Mthfr Deficiency Mucinoses Mucopolysaccharidoses Mucopolysaccharidosis I Mucopolysaccharidosis II Mucopolysaccharidosis III Mucopolysaccharidosis IV Mucopolysaccharidosis Type 1 Mucopolysaccharidosis Type 2 Mucopolysaccharidosis Type 3 A Mucopolysaccharidosis Type 6 Mucopolysaccharidosis Type 7 Mucopolysaccharidosis Type IV A Mucopolysaccharidosis VI Mucopolysaccharidosis VII Multiple Carboxylase Deficiency Multiple Endocrine Neoplasia Multiple Endocrine Neoplasia Type 2B Muscular Atrophy, Spinal Muscular Diseases Muscular Disorders, Atrophic Muscular Dystrophies Muscular Dystrophy, Duchenne Musculoskeletal Diseases N-acetyl glutamate synthetase deficiency N-acetylglutamate Synthase Deficiency Neonatal Severe Primary Hyperparathyroidism Neoplasms Neoplasms by Histologic Type Neoplasms by Site Neoplasms, Germ Cell and Embryonal Neoplasms, Glandular and Epithelial Neoplasms, Multiple Primary Neoplasms, Nerve Tissue Neoplasms, Neuroepithelial Neoplastic Syndromes, Hereditary Nephritis Nephritis, Hereditary Nervous System Diseases Neurobehavioral Manifestations Neurodegenerative Diseases Neuroectodermal Tumors Neurologic Manifestations Neuromuscular Diseases Niemann-Pick Disease Type A Niemann-Pick Disease Type C2 Niemann-Pick Disease, Type A Niemann-Pick Disease, Type C Niemann-Pick Disease, Type C1 Niemann-Pick Diseases Niemann-Pick disease, type C2 Nutrition Disorders Nutritional and Metabolic Diseases Obesity Ornithine Aminotransferase Deficiency Ornithine Carbamoyltransferase Deficiency Disease Ornithine Transcarbamylase Deficiency Ornithine Translocase Deficiency Overnutrition Overweight PTSD Pancreatic Agenesis 1 Pancreatic Diseases Pathologic Processes Pathological Conditions, Signs and Symptoms Permanent Neonatal Diabetes Mellitus Peroxisomal Disorders Phagocyte Bactericidal Dysfunction Phenylketonurias Phosphorus Metabolism Disorders Pigmentation Disorders Pitt Hopkins Syndrome Pitt-Hopkins syndrome Pituitary Hormone Deficiency, Combined, 1 Platelet Storage Pool Deficiency Prader-Willi Syndrome Primary Hyperoxaluria Type 1 Primary Hyperoxaluria Type 2 Primary Hyperoxaluria Type 3 Primary Immunodeficiency Diseases Propionic Acidemia Pseudohypoaldosteronism Pseudohypoaldosteronism, Type I Pyridoxal Phosphate-Responsive Seizures Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency Pyridoxine-Dependent Epilepsy Renal Tubular Transport, Inborn Errors Respiratory Tract Diseases Retinal Diseases Retinal Neoplasms Retinoblastoma Rett Syndrome Riboflavin Transporter Deficiency Rickets Rickets, Hypophosphatemic SCD SRD Segawa Syndrome, Autosomal Recessive Severe Combined Immunodeficiency Severe Combined Immunodeficiency Due to Adenosine Deaminase Deficiency Severe Combined Immunodeficiency Due to DCLRE1C Deficiency Severe Combined Immunodeficiency Due to IL-7Ralpha Deficiency Severe Combined Immunodeficiency Due to RAG1 Deficiency Severe Combined Immunodeficiency Due to RAG2 Deficiency Severe Combined Immunodeficiency T-Cell Negative B-Cell Positive Due to Janus Kinase-3 Deficiency (Disorder) Severe Combined Immunodeficiency, X Linked Sex Chromosome Disorders Sickle Cell Disease Skin Diseases Skin Diseases, Genetic Skin and Connective Tissue Diseases Smith-Lemli-Opitz Syndrome Sphingolipidoses Spinal Cord Diseases Steroid Metabolism, Inborn Errors Stickler Syndrome Type 1 Stickler Syndrome Type 2 Stickler syndrome, type 1 Stickler syndrome, type 2 Stress Disorders, Post-Traumatic Stress Disorders, Traumatic Sulfatidosis Supravalvar Aortic Stenosis Thalassemia Thyroid Diseases Thyroid Dyshormonogenesis 1 Thyroid Dyshormonogenesis 2A Thyroid Dyshormonogenesis 3 Thyroid Dyshormonogenesis 5 Thyroid Dyshormonogenesis 6 Transcobalamin II Deficiency Transient Neonatal Diabetes Mellitus Trauma and Stressor Related Disorders Trifunctional Protein Deficiency With Myopathy And Neuropathy Tuberous Sclerosis 1 Tuberous Sclerosis 2 Tyrosinemia, Type I Tyrosinemias Urea Cycle Disorders, Inborn Urogenital Abnormalities Urogenital Diseases Urologic Diseases Usher Syndrome Type 1C Usher Syndrome Type 1D/F Digenic (Diagnosis) Usher Syndrome Type 1G (Diagnosis) Usher Syndrome, Type 1B Usher Syndrome, Type 1F Usher syndrome, type 1C Uveal Diseases VLCAD deficiency Ventricular Outflow Obstruction Very Long Chain Acyl Coa Dehydrogenase Deficiency Vitamin D Deficiency Von Willebrand Disease, Type 3 Waardenburg Syndrome Waardenburg Syndrome Type 1 Waardenburg Syndrome Type 2A Waardenburg Syndrome, Type 2E Waardenburg syndrome type 2 Wilson Disease Wolman Disease X-Linked Combined Immunodeficiency Diseases X-Linked Intellectual Disability Xanthomatosis Xanthomatosis, Cerebrotendinous von Willebrand Diseases