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Diseases detected by the Horizon test

Keyword
3 6 A B C D E F G H I J K L M N O P R S T U V W Z
Title
3-Beta-Hydroxysteroid Dehydrogenase Type II Deficiency
3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency
3-Methylcrotonyl-CoA Carboxylase 1 Deficiency
3-Methylcrotonyl-CoA Carboxylase 2 Deficiency
3-Phosphoglycerate Dehydrogenase Deficiency
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Abetalipoproteinemia
Achondrogenesis, Type 1B
Achromatopsia, CNGB3-Related
Acrodermatitis Enteropathica
Acute Infantile Liver Failure, TRMU-Related
Acyl-CoA Oxidase I Deficiency
Adrenoleukodystrophy, X-Linked (ABCD1)
Aicardi-Goutières Syndrome
Alpha-Mannosidosis
Alpha-Thalassemia
Alpha-Thalassemia Intellectual Disability Syndrome
Alport Syndrome, COL4A3-related
Alport Syndrome, COL4A4-related
Alport Syndrome, X-Linked
Alport Syndrome, X-Linked
Alstrom Syndrome
Andermann Syndrome
Argininosuccinate Lyase Deficiency
Aromatase Deficiency
Asparagine Synthase Deficiency
Aspartylglycosaminuria
Ataxia with Vitamin E Deficiency
Ataxia-Telangiectasia
Autism Spectrum, Epilepsy and Arthrogryposis
Autoimmune Polyglandular Syndrome, Type 1
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
Bardet-Biedl Syndrome, BBS1-Related
Bardet-Biedl Syndrome, BBS10-Related
Bardet-Biedl Syndrome, BBS12-Related
Bardet-Biedl Syndrome, BBS2-Related
Bare Lymphocyte Syndrome, CIITA-Related
Bartter Syndrome, BSND-Related
Batten Disease, CLN3-Related
Beta-Hemoglobinopathies
Beta-Ketothiolase Deficiency
Bilateral Frontoparietal Polymicrogyria
Biotinidase Deficiency
Bloom Syndrome
Canavan Disease
Carbamoyl Phosphate Synthetase I Deficiency
Carnitine Deficiency
Carnitine Palmitoyltransferase IA Deficiency
Carnitine Palmitoyltransferase II Deficiency
Carpenter Syndrome
Cartilage-Hair Hypoplasia
Cerebrotendinous Xanthomatosis
Charcot-Marie-Tooth Disease with Deafness, X-linked
Charcot-Marie-Tooth Disease, Type 4D
Choreoacanthocytosis
Choroideremia
Chronic Granulomatous Disease, CYBA-Related
Chronic Granulomatous Disease, X-Linked
Ciliopathies, RPGRIP1L-Related
Citrin Deficiency
Citrullinemia, Type 1
Cohen Syndrome
Combined Malonic and Methylmalonic Aciduria
Combined Oxidative Phosphorylation Deficiency 1
Combined Oxidative Phosphorylation Deficiency 3
Combined Pituitary Hormone Deficiency-2
Congenital Adrenal Hyperplasia, 17-Alpha-Hydroxylase Deficiency
Congenital Amegakaryocytic Thrombocytopenia
Congenital Disorder of Glycosylation, Type 1A, PMM2-Related
Congenital Disorder of Glycosylation, Type 1B
Congenital Disorder of Glycosylation, Type 1C
Congenital Finnish Nephrosis
Congenital Hyperinsulinism, KCNJ11-Related
Congenital Insensitivity to Pain with Anhidrosis (CIPA)
Congenital Myasthenic Syndrome, CHRNE-Related
Congenital Myasthenic Syndrome, RAPSN-Related
Congenital Neutropenia, HAX1-Related
Congenital Neutropenia, VPS45-Related
Corneal Dystrophy and Perceptive Deafness
Corticosterone Methyloxidase Deficiency
Costeff Syndrome (3-Methylglutaconic Aciduria, Type 3)
CRB1-Related Retinal Dystrophies
Creatine Transporter Defect (Cerebral Creatine Deficiency Syndrome 1, X-Linked)
Cystic Fibrosis
Cystinosis
D-Bifunctional Protein Deficiency
Deafness, Autosomal Recessive 77
Duchenne/Becker Muscular Dystrophy
Dyskeratosis Congenita, RTEL1-Related
Dystrophic Epidermolysis Bullosa, COL7A1-Related
Ehlers-Danlos Syndrome, Type VIIC
Ellis-van Creveld Syndrome, EVC-Related
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Enhanced S-Cone Syndrome
Ethylmalonic Encephalopathy
Fabry Disease
Factor IX Deficiency
Factor XI Deficiency
Familial Dysautonomia
Familial Hypercholesterolemia, LDLR-Related
Familial Hypercholesterolemia, LDLRAP1-Related
Familial Hyperinsulinism, ABCC8-Related
Familial Mediterranean Fever
Familial Nephrogenic Diabetes Insipidus, AQP2-Related
Fanconi Anemia, Group A
Fanconi Anemia, Group C
Fanconi Anemia, Group G
Fragile X Syndrome
Fumarase Deficiency
Galactokinase Deficiency (Galactosemia, Type II)
Galactosemia
Gaucher Disease
Gitelman Syndrome
Glutaric Acidemia, Type 1
Glutaric Acidemia, Type 2A
Glutaric Acidemia, Type 2C
Glycine Encephalopathy, AMT-Related
Glycine Encephalopathy, GLDC-Related
Glycogen Storage Disease, Type 1a
Glycogen Storage Disease, Type 1b
Glycogen Storage Disease, Type 2 (Pompe Disease)
Glycogen Storage Disease, Type 3
Glycogen Storage Disease, Type 4
Glycogen Storage Disease, Type 5 (McArdle Disease)
Glycogen Storage Disease, Type 7
GRACILE Syndrome
Guanidinoacetate Methyltransferase Deficiency
Hemochromatosis Type 2A
Hemochromatosis, Type 3, TFR2-Related
Hepatocerebral Mitochondrial DNA Depletion Syndrome, MPV17-Related
Hereditary Fructose Intolerance
Hereditary Spastic Paraparesis, Type 49
Hermansky-Pudlak Syndrome, HPS1-Related
Hermansky-Pudlak Syndrome, HPS3-Related
Holocarboxylase Synthetase Deficiency
Homocystinuria due to Deficiency of MTHFR
Homocystinuria, CBS-Related
Homocystinuria, Type cblE
Hydrolethalus Syndrome
Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH Syndrome)
Hypohidrotic Ectodermal Dysplasia, X-Linked
Hypophosphatasia, ALPL-Related
Inclusion Body Myopathy 2
Infantile Cerebral and Cerebellar Atrophy
Isovaleric Acidemia
Joubert Syndrome 2/Meckel Syndrome 2
Juvenile Retinoschisis, X-Linked
Krabbe Disease
Lamellar Ichthyosis, Type 1
Leber Congenital Amaurosis 2
Leber Congenital Amaurosis, Type CEP290
Leber Congenital Amaurosis, Type LCA5
Leber Congenital Amaurosis, Type RDH12
Leigh Syndrome, French-Canadian Type
Lethal Congenital Contracture Syndrome 1
Leukoencephalopathy with Vanishing White Matter
Limb-Girdle Muscular Dystrophy, Type 2A
Limb-Girdle Muscular Dystrophy, Type 2B
Limb-Girdle Muscular Dystrophy, Type 2C
Limb-Girdle Muscular Dystrophy, Type 2D
Limb-Girdle Muscular Dystrophy, Type 2E
Limb-Girdle Muscular Dystrophy, Type 2I
Lipoamide Dehydrogenase Deficiency
Lipoid Adrenal Hyperplasia
Lipoprotein Lipase Deficiency
Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
Lysinuric Protein Intolerance
Maple Syrup Urine Disease, Type 1A
Maple Syrup Urine Disease, Type 1B
Meckel-Gruber Syndrome, Type 1
Medium Chain Acyl-CoA Dehydrogenase Deficiency
Megalencephalic Leukoencephalopathy with Subcortical Cysts
Menkes Syndrome
Metachromatic Leukodystrophy, ARSA-Related
Metachromatic Leukodystrophy, PSAP-Related
Methylmalonic Aciduria and Homocystinuria, Type cblC
Methylmalonic Aciduria and Homocystinuria, Type cblD
Methylmalonic Aciduria, MMAA-Related
Methylmalonic Aciduria, MMAB-Related
Methylmalonic Aciduria, Type mut(0)
Microphthalmia/Anophthalmia, VSX2-Related
Mitochondrial Complex 1 Deficiency, ACAD9-Related
Mitochondrial Complex 1 Deficiency, NDUFAF5-Related
Mitochondrial Complex 1 Deficiency, NDUFS6-Related
Mitochondrial Myopathy and Sideroblastic Anemia (MLASA1)
Mucolipidosis II/IIIA
Mucolipidosis III gamma
Mucolipidosis, Type IV
Mucopolysaccharidosis, Type I (Hurler Syndrome)
Mucopolysaccharidosis, Type II (Hunter Syndrome)
Mucopolysaccharidosis, Type IIIA (Sanfilippo A)
Mucopolysaccharidosis, Type IIIB (Sanfilippo B)
Mucopolysaccharidosis, Type IIIC (Sanfilippo C)
Mucopolysaccharidosis, Type IIID (Sanfilippo D)
Mucopolysaccharidosis, Type IVB/GM1 Gangliosidosis
Mucopolysaccharidosis, Type IX
Mucopolysaccharidosis, Type VI (Maroteaux-Lamy)
Multiple Sulfatase Deficiency
Muscle-Eye-Brain Disease, POMGNT1-Related
Myoneurogastrointestinal Encephalopathy (MNGIE)
Myotubular Myopathy, X-Linked
N-acetylglutamate Synthase Deficiency
Nemaline Myopathy, NEB-Related
Neuronal Ceroid Lipofuscinosis, CLN5-Related
Neuronal Ceroid Lipofuscinosis, CLN6-Related
Neuronal Ceroid Lipofuscinosis, CLN8-Related
Neuronal Ceroid Lipofuscinosis, MFSD8-Related
Neuronal Ceroid Lipofuscinosis, PPT1-Related
Neuronal Ceroid Lipofuscinosis, TPP1-Related
Niemann-Pick Disease, Type C1/D
Niemann-Pick Disease, Type C2
Niemann-Pick Disease, Types A/B
Nijmegen Breakage Syndrome
Non-Syndromic Hearing Loss, GJB2-Related
Odonto-Onycho-Dermal Dysplasia/Schopf-Schulz-Passarge Syndrome
Omenn Syndrome, RAG2-Related
Ornithine Aminotransferase Deficiency
Ornithine Transcarbamylase Deficiency
Osteopetrosis, Infantile Malignant, TCIRG1-Related
Pendred Syndrome
Phenylketonuria
Pituitary Hormone Deficiency, Combined 3
Polycystic Kidney Disease, Autosomal Recessive
Pontocerebellar Hypoplasia, RARS2-Related
Pontocerebellar Hypoplasia, Type 1A
Pontocerebellar Hypoplasia, Type 2D
Primary Ciliary Dyskinesia, DNAH5-Related
Primary Ciliary Dyskinesia, DNAI1-Related
Primary Ciliary Dyskinesia, DNAI2-Related
Primary Hyperoxaluria, Type 1
Primary Hyperoxaluria, Type 2
Primary Hyperoxaluria, Type 3
Progressive Familial Intrahepatic Cholestasis, Type 2
Propionic Acidemia, PCCA-Related
Propionic Acidemia, PCCB-Related
Pycnodysostosis
Pyruvate Dehydrogenase Deficiency, PDHB-Related
Pyruvate Dehydrogenase Deficiency, X-Linked
Renal Tubular Acidosis and Deafness, ATP6V1B1-Related
Retinitis Pigmentosa 25
Retinitis Pigmentosa 26
Retinitis Pigmentosa 28
Retinitis Pigmentosa 59
Rhizomelic Chondrodysplasia Punctata, Type 1
Rhizomelic Chondrodysplasia Punctata, Type 3
Roberts Syndrome
Salla Disease
Sandhoff Disease
Schimke Immunoosseous Dysplasia
Segawa Syndrome, TH-Related
Severe Combined Immunodeficiency, ADA-Related
Severe Combined Immunodeficiency, Type Athabaskan
Severe Combined Immunodeficiency, X-Linked
Sjogren-Larsson Syndrome
Smith-Lemli-Opitz Syndrome
Spinal Muscular Atrophy
Spondylothoracic Dysostosis, MESP2-Related
Steroid-Resistant Nephrotic Syndrome
Stuve-Wiedemann Syndrome
Tay-Sachs Disease
Tyrosinemia, Type 1
Usher Syndrome, Type 1B
Usher Syndrome, Type 1C
Usher Syndrome, Type 1D
Usher Syndrome, Type 1F
Usher Syndrome, Type 2A
Usher Syndrome, Type 3
Very Long-Chain Acyl-CoA Dehydrogenase Deficiency
Walker-Warburg Syndrome, FKTN-Related
Wilson Disease
Wolman Disease
Zellweger Spectrum Disorders, PEX1-Related
Zellweger Spectrum Disorders, PEX10-Related
Zellweger Spectrum Disorders, PEX2-Related
Zellweger Spectrum Disorders, PEX6-Related