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Ataxia with vitamin E deficiency, Beta ketothiolase deficiency, Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 2 deficiency, dopamine beta hydroxylase deficiency, Malonic aciduria, Nephrosis, congenital, Cholestasis, progressive familial intrahepatic 1, Medium chain acyl CoA dehydrogenase deficiency, Pyridoxine-dependent epilepsy, Neonatal-onset citrullinemia type 2, Systemic carnitine deficiency, Glut1 Deficiency Syndrome, Glutaric Acidemia I, Timothy syndrome, Brown-Vialetto-Van Laere syndrome, Methylmalonic acidemia, Aromatic amino acid decarboxylase deficiency, Succinyl-CoA:3-oxoacid CoA transferase deficiency, Segawa syndrome, autosomal recessive, Neutropenia, Severe Congenital, Autosomal Recessive 3, Basal ganglia disease, biotin-responsive, Sucrase-isomaltase deficiency, congenital, Acidemia, isovaleric, 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency, HHH syndrome, Glucose-Galactose Malabsorption, Hypophosphatasia, Infantile, Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency, Carnitine-Acylcarnitine Translocase Deficiency, Hypermethioninemia, Cardiomyopathy, Familial Hypertrophic, 4, Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency, Phosphoglycerate Dehydrogenase Deficiency, Trifunctional Protein Deficiency With Myopathy And Neuropathy, Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of, Phosphoserine Aminotransferase Deficiency, Inflammatory Bowel Disease 25, Autosomal Recessive, 3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency, Neurodegeneration Due To Cerebral Folate Transport Deficiency, Glycogen Storage Disease XIV, Combined Pituitary Hormone Deficiency, Shwachman-Diamond Syndrome, Polymorphic Catecholaminergic Ventricular Tachycardia, Adrenal Hyperplasia, Congenital, Adrenoleukodystrophy, Anemia, Sickle Cell, Charcot-Marie-Tooth Disease, Chediak-Higashi Syndrome, Hemophilia B, Congenital Hypothyroidism, Crigler-Najjar Syndrome, Cystic Fibrosis, Cystinosis, Diabetes Mellitus, Type 2, Fanconi Syndrome, Fanconi Anemia, Fructose Intolerance, Galactosemias, Gaucher Disease, Glucosephosphate Dehydrogenase Deficiency, Glycogen Storage Disease, Glycogen Storage Disease Type II, Granulomatous Disease, Chronic, Hemophilia A, Hepatolenticular Degeneration, Homocystinuria, Hyperoxaluria, Primary, Menkes Kinky Hair Syndrome, Leukodystrophy, Metachromatic, Mucopolysaccharidosis I, Hyperlipoproteinemia Type I, Maple Syrup Urine Disease, Mucopolysaccharidosis IV, Mucopolysaccharidosis VI, Nephritis, Hereditary, Neuronal Ceroid-Lipofuscinoses, Phenylketonurias, Pseudohypoaldosteronism, Retinoblastoma, Riboflavin Deficiency, Vitamin B 12 Deficiency, Wiskott-Aldrich Syndrome, Wolman Disease, Fructose-1,6-Diphosphatase Deficiency, Severe Combined Immunodeficiency, Mucopolysaccharidosis II, Mucopolysaccharidosis VII, Stiff-Person Syndrome, alpha-Thalassemia, Diabetes Insipidus, Nephrogenic, Smith-Lemli-Opitz Syndrome, alpha 1-Antitrypsin Deficiency, Hyperglycinemia, Nonketotic, Citrullinemia, Hyperargininemia, Ornithine Carbamoyltransferase Deficiency Disease, Carbamoyl-Phosphate Synthase I Deficiency Disease, Tyrosinemias, Myasthenic Syndromes, Congenital, Biotinidase Deficiency, Holocarboxylase Synthetase Deficiency, Anemia, Diamond-Blackfan, Jervell-Lange Nielsen Syndrome, Congenital Hyperinsulinism, Andersen Syndrome, Lymphohistiocytosis, Hemophagocytic, Familial Hypophosphatemic Rickets, Aspartylglucosaminuria, Propionic Acidemia, Argininosuccinic Aciduria

NCT01793168 2025-05-29

CoRDS

Recruiting

20,000 enrolled

Classical hematologyDermatologicEndocrineGastrointestinalHead & NeckMyeloidSarcoma

Leukoencephalopathy Brain Calcifications and Cysts, Aniridia, Partial, with Unilateral Renal Agenesis and Psychomotor Retardation, Recurrent respiratory papillomatosis, Cerebellar ataxia ectodermal dysplasia, CAPOS syndrome, Chromosome 1p36 Deletion Syndrome, Ataxia with vitamin E deficiency, Chronic recurrent multifocal osteomyelitis, Episodic Ataxia, Type 2, Harding ataxia, Axenfeld-Rieger syndrome, Emanuel syndrome, Erythrokeratodermia with ataxia, Eosinophilic enteropathy, Achalasia Addisonianism Alacrimia syndrome, Maternally Inherited Leigh Syndrome, Nicolaides Baraitser syndrome, Trimethylaminuria, Warburg Sjo Fledelius syndrome, Spastic ataxia Charlevoix-Saguenay type, Turcot syndrome, KBG syndrome, Spinocerebellar ataxia 13, Spinocerebellar ataxia 14, Sensorimotor neuropathy with ataxia, autosomal dominant, Spinocerebellar ataxia 20, Spinocerebellar ataxia 21, Spinocerebellar ataxia 23, Spinocerebellar ataxia 25, Spinocerebellar ataxia 26, Spinocerebellar ataxia 27, Spinocerebellar ataxia 28, Sacral defect and anterior sacral meningocele, Spinocerebellar ataxia 8, Spinocerebellar ataxia, autosomal recessive 1, Spinocerebellar ataxia, autosomal recessive 3, Spinocerebellar ataxia, X-linked, 3, Spinocerebellar ataxia, X-linked, 4, Neuropathy ataxia and retinitis pigmentosa, Pitt-Hopkins syndrome, Bohring syndrome, Stickler syndrome, type 1, Stickler syndrome, type 2, Jansen type metaphyseal chondrodysplasia, Growth mental deficiency syndrome of Myhre, Kabuki syndrome, Laryngeal papillomatosis, Peters anomaly, Early-onset ataxia with oculomotor apraxia and hypoalbuminemia, Sucrase-isomaltase deficiency, congenital, Blau syndrome, Acrodysostosis, Cataract ataxia deafness, Potocki-Shaffer syndrome, Hypophosphatasia, Childhood, Hypophosphatasia, Adult, Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type, Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus, Episodic Ataxia, Type 1, Cerebellar Ataxia, Cayman Type, Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia, Olivopontocerebellar Atrophy V, Myoclonus, Cerebellar Ataxia, and Deafness, Spinocerebellar Ataxia, Autosomal Recessive 7, Fragile X Tremor Ataxia Syndrome, Odontohypophosphatasia, Spinocerebellar Ataxia with Epilepsy, Spinocerebellar Ataxia 15, Episodic Ataxia, Type 3, Episodic Ataxia, Type 4, Spastic Ataxia, Spinocerebellar Ataxia, Autosomal Recessive 8, Dimethylglycine Dehydrogenase Deficiency, Growth Deficiency and Mental Retardation with Facial Dysmorphism, Cystinosis, Infantile Nephropathic, 3-Methylglutaconic Aciduria, Type V, Spinocerebellar Ataxia 11, Ataxia Telangiectasia Like Disorder, Spinocerebellar Ataxia 12, Cerebellar Ataxia and Hypogonadotropic Hypogonadism, Spinocerebellar Ataxia 31, Brachydactyly-Nystagmus-Cerebellar Ataxia, Ataxia, Spastic, with Congenital Miosis, Aniridia and Absent Patella, Hereditary Myopathy with Early Respiratory Failure, Episodic Ataxia, Type 5, Sacral Agenesis Syndrome, Paroxysmal Tonic Upgaze, Benign Childhood, With Ataxia, Ataxia-Telangiectasia Variant, Spinocerebellar Ataxia 10, Ataxia, Spastic, 3, Autosomal Recessive, Multiple Endocrine Neoplasia, Type IV, Hypophosphatasia, Perinatal Lethal, Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract, Episodic Ataxia, Type 6, Episodic Ataxia, Type 7, Spinocerebellar ataxia 30, Ataxia Neuropathy Spectrum, Hereditary Sensory and Autonomic Neuropathy Type Ie, Cauda Equina Syndrome, Olivary Degeneration, Addison Disease, Ataxia, Ataxia Telangiectasia, Beckwith-Wiedemann Syndrome, Biliary Atresia, Cockayne Syndrome, Cystinosis, De Lange Syndrome, Deafness, Esophageal Achalasia, Friedreich Ataxia, Glycogen Storage Disease, Halitosis, Hirschsprung Disease, Disorders of Excessive Somnolence, Hypophosphatasia, Infections, Intestinal Pseudo-Obstruction, Klippel-Feil Syndrome, Leigh Disease, Leiomyosarcoma, Leukodystrophy, Metachromatic, Liver Cirrhosis, Biliary, Lyme Disease, Meningitis, Viral, Moyamoya Disease, Mucocutaneous Lymph Node Syndrome, Mucolipidoses, Muscle Spasticity, Myasthenia Gravis, Myoclonus, Narcolepsy, Multiple Endocrine Neoplasia, Neuronal Ceroid-Lipofuscinoses, Hereditary Sensory and Autonomic Neuropathies, Oculocerebrorenal Syndrome, Hyperacusis, Rectal Fistula, Refsum Disease, Retinitis Pigmentosa, Scheuermann Disease, Short Bowel Syndrome, Spinocerebellar Degenerations, Syndrome, Pyruvate Dehydrogenase Complex Deficiency Disease, Lambert-Eaton Myasthenic Syndrome, Aniridia, Alagille Syndrome, Kleine-Levin Syndrome, WAGR Syndrome, Machado-Joseph Disease, Multiple Endocrine Neoplasia Type 1, Multiple Endocrine Neoplasia Type 2a, Multiple Endocrine Neoplasia Type 2b, Williams Syndrome, Multiple System Atrophy, Hyperglycinemia, Nonketotic, Hyperargininemia, Idiopathic Hypersomnia, Amnesia, Transient Global, Spinocerebellar Ataxias, Myasthenia Gravis, Neonatal, Mitochondrial Diseases, Optic Atrophy, Autosomal Dominant, Denys-Drash Syndrome, Rare Diseases, Coffin-Lowry Syndrome, Muscular Dystrophy, Oculopharyngeal, beta-Mannosidosis, Scleroderma, Diffuse, Lymphohistiocytosis, Hemophagocytic, Frasier Syndrome, Wolf-Hirschhorn Syndrome, Bulbo-Spinal Atrophy, X-Linked, Alstrom Syndrome, Leber Congenital Amaurosis, Frontotemporal Dementia, Neglected Diseases, Atypical Hemolytic Uremic Syndrome

NCT05882175 2025-05-13