Abetalipoproteinemia   2 studies
Abnormalities, Drug-Induced   1 study
Abnormalities, Multiple   119 studies
Abnormalities, Radiation-Induced   3 studies
Achondroplasia   1 study
Acrodermatitis   10 studies
Adenomatous Polyposis Coli   22 studies
Adrenal Hyperplasia, Congenital   16 studies
Adrenoleukodystrophy   32 studies
Afibrinogenemia   2 studies
Alagille Syndrome   3 studies
Albinism   8 studies
Albinism, Ocular   1 study
Albinism, Oculocutaneous   6 studies
Alkaptonuria   2 studies
Alpha-Mannosidosis   5 studies
Alpha-Thalassemia   4 studies
Amino Acid Metabolism, Inborn Errors   65 studies
Amyloid Neuropathies, Familial   4 studies
Amyloidosis, Familial   4 studies
Andersen Syndrome   2 studies
Anemia, Diamond-Blackfan   21 studies
Anemia, Hemolytic, Congenital   243 studies
Anemia, Hemolytic, Congenital Nonspherocytic   1 study
Anemia, Neonatal   7 studies
Anemia, Sickle Cell   183 studies
Anencephaly   4 studies
Angelman Syndrome   5 studies
Angioedema, Hereditary   25 studies
Aniridia   8 studies
Anodontia   2 studies
Anophthalmos   2 studies
Antithrombin III Deficiency   5 studies
Aortic Coarctation   9 studies
Arachnodactyly   10 studies
Arnold-Chiari Malformation   18 studies
Arrhythmogenic Right Ventricular Dysplasia   4 studies
Arteriovenous Fistula   21 studies
Arteriovenous Malformations   27 studies
Arthritis, Gouty   7 studies
Asphyxia Neonatorum   12 studies
Ataxia Telangiectasia   41 studies
Bardet-Biedl Syndrome   3 studies
Basal Cell Nevus Syndrome   10 studies
Beta-Thalassemia   46 studies
Biliary Atresia   7 studies
Biotinidase Deficiency   1 study
Birth Injuries   3 studies
Bladder Exstrophy   2 studies
Bloom Syndrome   1 study
Brain Diseases, Metabolic, Inborn   204 studies
Bronchopulmonary Dysplasia   52 studies
Brugada Syndrome   6 studies
Canavan Disease   4 studies
Carbamoyl-Phosphate Synthase I Deficiency Disease   1 study
Cardiomyopathy, Hypertrophic, Familial   3 studies
Cardiovascular Abnormalities   292 studies
Caroli Disease   1 study
Charcot-Marie-Tooth Disease   61 studies
Cholesterol Ester Storage Disease   3 studies
Chorioamnionitis   13 studies
Choroideremia   1 study
Chromosome Disorders   129 studies
Citrullinemia   2 studies
Cleft Lip   16 studies
Cleft Palate   23 studies
Cockayne Syndrome   2 studies
Coloboma   2 studies
Colorectal Neoplasms, Hereditary Nonpolyposis   20 studies
Congenital Abnormalities   1451 studies
Congenital Hypothyroidism   4 studies
Corneal Dystrophies, Hereditary   12 studies
Craniofacial Abnormalities   43 studies
Craniosynostoses   9 studies
Crigler-Najjar Syndrome   1 study
Cryptorchidism   4 studies
Cutis Laxa   4 studies
Cystic Adenomatoid Malformation of Lung, Congenital   2 studies
Cystic Fibrosis   320 studies
Cystinosis   12 studies
Cystinuria   2 studies
Dermatitis, Atopic   179 studies
Dextrocardia   12 studies
DiGeorge Syndrome   18 studies
Digestive System Abnormalities   76 studies
Dihydropyrimidine Dehydrogenase Deficiency   7 studies
Double Outlet Right Ventricle   2 studies
Down Syndrome   44 studies
Ductus Arteriosus, Patent   26 studies
Dwarfism   107 studies
Dyskeratosis Congenita   6 studies
Dysplastic Nevus Syndrome   4 studies
Ebstein Anomaly   1 study
Ectodermal Dysplasia   6 studies
Ehlers-Danlos Syndrome   5 studies
Eisenmenger Complex   6 studies
Elliptocytosis, Hereditary   1 study
Endocardial Cushion Defects   5 studies
Epidermolysis Bullosa   17 studies
Epidermolysis Bullosa Acquisita   1 study
Epidermolysis Bullosa Dystrophica   7 studies
Epidermolysis Bullosa Simplex   1 study
Epidermolysis Bullosa, Junctional   1 study
Epispadias   2 studies
Erythroblastosis, Fetal   5 studies
Esophageal Atresia   1 study
Exostoses, Multiple Hereditary   3 studies
Eye Abnormalities   12 studies
Eye Diseases, Hereditary   85 studies
Fabry Disease   46 studies
Factor V Deficiency   6 studies
Factor X Deficiency   1 study
Factor XIII Deficiency   6 studies
Familial Mediterranean Fever   7 studies
Fanconi Anemia   40 studies
Fanconi Syndrome   9 studies
Favism   1 study
Fetal Alcohol Syndrome   11 studies
Fetal Diseases   64 studies
Fetal Growth Retardation   35 studies
Fetal Hypoxia   1 study
Fetal Macrosomia   3 studies
Fetofetal Transfusion   1 study
Fetomaternal Transfusion   1 study
Focal Dermal Hypoplasia   1 study
Foramen Ovale, Patent   16 studies
Fragile X Syndrome   17 studies
Friedreich Ataxia   16 studies
Fuchs' Endothelial Dystrophy   8 studies
Fucosidosis   5 studies
Funnel Chest   4 studies
Galactosemias   2 studies
Gangliosidoses   10 studies
Gangliosidoses, GM2   8 studies
Gangliosidosis, GM1   4 studies
Gastroschisis   3 studies
Gaucher Disease   39 studies
Genetic Diseases, Inborn   2206 studies
Genetic Diseases, X-Linked   219 studies
Glucosephosphate Dehydrogenase Deficiency   2 studies
Glycogen Storage Disease   36 studies
Glycogen Storage Disease Type I   8 studies
Glycogen Storage Disease Type II   32 studies
Glycogen Storage Disease Type IV   1 study
Glycogen Storage Disease Type VII   1 study
Gonadal Dysgenesis   33 studies
Gout   36 studies
Granulomatous Disease, Chronic   25 studies
Gyrate Atrophy   2 studies
Hamartoma Syndrome, Multiple   5 studies
Heart Defects, Congenital   247 studies
Heart Septal Defects   40 studies
Heart Septal Defects, Atrial   25 studies
Heart Septal Defects, Ventricular   17 studies
Hemochromatosis   24 studies
Hemoglobin SC Disease   13 studies
Hemoglobinopathies   250 studies
Hemophilia A   138 studies
Hemophilia B   39 studies
Hepatolenticular Degeneration   4 studies
Hereditary Motor and Sensory Neuropathies   61 studies
Heredodegenerative Disorders, Nervous System   287 studies
Hermanski-Pudlak Syndrome   5 studies
Hernia, Umbilical   10 studies
Hip Dislocation, Congenital   19 studies
Hirschsprung Disease   3 studies
Holoprosencephaly   5 studies
Homocystinuria   2 studies
Huntington Disease   52 studies
Hyaline Membrane Disease   5 studies
Hydrocephalus   30 studies
Hydrophthalmos   4 studies
Hydrops Fetalis   1 study
Hyper-IgM Immunodeficiency Syndrome, Type 1   9 studies
Hyperbilirubinemia, Neonatal   10 studies
Hyperhomocysteinemia   13 studies
Hyperkeratosis, Epidermolytic   1 study
Hyperlipidemia, Familial Combined   24 studies
Hyperlipoproteinemia Type I   1 study
Hyperlipoproteinemia Type II   44 studies
Hyperlipoproteinemia Type III   3 studies
Hyperlipoproteinemia Type IV   5 studies
Hyperlipoproteinemia Type V   3 studies
Hyperoxaluria, Primary   6 studies
Hypoalphalipoproteinemias   4 studies
Hypobetalipoproteinemias   4 studies
Hypokalemic Periodic Paralysis   2 studies
Hypolipoproteinemias   8 studies
Hypophosphatasia   4 studies
Hypophosphatemia, Familial   6 studies
Hypophosphatemic Rickets, X-Linked Dominant   5 studies
Hypoplastic Left Heart Syndrome   12 studies
Hypospadias   2 studies
Ichthyosiform Erythroderma, Congenital   4 studies
Ichthyosis   12 studies
Ichthyosis Vulgaris   2 studies
Ichthyosis, Lamellar   3 studies
Ichthyosis, X-Linked   1 study
Incontinentia Pigmenti   1 study
Infant, Newborn, Diseases   567 studies
Infant, Premature, Diseases   103 studies
Intracranial Arteriovenous Malformations   2 studies
Jaundice, Neonatal   5 studies
Kallmann Syndrome   12 studies
Kartagener Syndrome   11 studies
Keratoderma, Palmoplantar   1 study
Keratoderma, Palmoplantar, Diffuse   1 study
Keratosis Follicularis   3 studies
Klinefelter Syndrome   7 studies
Lactose Intolerance   5 studies
Lafora Disease   1 study
Laron Syndrome   2 studies
Lesch-Nyhan Syndrome   2 studies
Leukodystrophy, Globoid Cell   8 studies
Leukodystrophy, Metachromatic   11 studies
Leukomalacia, Periventricular   13 studies
Li-Fraumeni Syndrome   1 study
Lipid Metabolism, Inborn Errors   199 studies
Lipidoses   110 studies
Long QT Syndrome   15 studies
Lymphatic Abnormalities   6 studies
Lysosomal Storage Diseases   188 studies
Machado-Joseph Disease   3 studies
Malformations of Cortical Development   17 studies
Mannosidase Deficiency Diseases   5 studies
Marfan Syndrome   10 studies
Maxillofacial Abnormalities   22 studies
Meconium Aspiration Syndrome   7 studies
MELAS Syndrome   3 studies
Meningocele   3 studies
Meningomyelocele   4 studies
Menkes Kinky Hair Syndrome   2 studies
Mental Retardation, X-Linked   54 studies
Metabolism, Inborn Errors   527 studies
Mevalonate Kinase Deficiency   1 study
Microcephaly   2 studies
Micrognathism   1 study
Microphthalmos   3 studies
Mineralocorticoid Excess Syndrome, Apparent   1 study
Mobius Syndrome   2 studies
Mucolipidoses   4 studies
Mucopolysaccharidoses   38 studies
Mucopolysaccharidosis I   22 studies
Mucopolysaccharidosis II   10 studies
Mucopolysaccharidosis IV   3 studies
Mucopolysaccharidosis VI   10 studies
Mucopolysaccharidosis VII   1 study
Multicystic Dysplastic Kidney   1 study
Multiple Endocrine Neoplasia   11 studies
Muscular Dystrophies   57 studies
Muscular Dystrophies, Limb-Girdle   6 studies
Muscular Dystrophy, Duchenne   33 studies
Muscular Dystrophy, Facioscapulohumeral   5 studies
Muscular Dystrophy, Oculopharyngeal   2 studies
Musculoskeletal Abnormalities   81 studies
Myasthenic Syndromes, Congenital   1 study
Myotonia Congenita   1 study
Myotonic Dystrophy   23 studies
Nail-Patella Syndrome   1 study
Neonatal Abstinence Syndrome   7 studies
Neoplastic Syndromes, Hereditary   140 studies
Nephritis, Hereditary   3 studies
Nervous System Malformations   68 studies
Neural Tube Defects   27 studies
Neuroacanthocytosis   1 study
Neurocutaneous Syndromes   78 studies
Neurofibromatoses   46 studies
Neurofibromatosis 1   46 studies
Neurofibromatosis 2   10 studies
Neuronal Ceroid-Lipofuscinoses   5 studies
Neuronal Migration Disorders   1 study
Niemann-Pick Disease, Type A   10 studies
Niemann-Pick Disease, Type B   1 study
Niemann-Pick Disease, Type C   10 studies
Niemann-Pick Diseases   10 studies
Noonan Syndrome   3 studies
Nystagmus, Congenital   3 studies
Oculocerebrorenal Syndrome   3 studies
Ophthalmia Neonatorum   1 study
Optic Atrophies, Hereditary   10 studies
Optic Atrophy, Autosomal Dominant   1 study
Optic Atrophy, Hereditary, Leber   2 studies
Ornithine Carbamoyltransferase Deficiency Disease   5 studies
Orofaciodigital Syndromes   1 study
Osteogenesis Imperfecta   14 studies
Pachyonychia Congenita   1 study
Pantothenate Kinase-Associated Neurodegeneration   1 study
Paralyses, Familial Periodic   3 studies
Paralysis, Hyperkalemic Periodic   1 study
Pelizaeus-Merzbacher Disease   2 studies
Pemphigus, Benign Familial   1 study
Peroxisomal Disorders   16 studies
Persistent Fetal Circulation Syndrome   12 studies
Persistent Hyperinsulinemia Hypoglycemia of Infancy   5 studies
Peutz-Jeghers Syndrome   5 studies
Phenylketonuria, Maternal   1 study
Phenylketonurias   30 studies
Piebaldism   1 study
Platybasia   1 study
POEMS Syndrome   1 study
Polydactyly   2 studies
Porokeratosis   1 study
Porphyria Cutanea Tarda   3 studies
Porphyria, Acute Intermittent   3 studies
Porphyria, Erythropoietic   16 studies
Porphyrias   16 studies
Porphyrias, Hepatic   9 studies
Port-Wine Stain   16 studies
Prader-Willi Syndrome   15 studies
Progeria   5 studies
Protein C Deficiency   2 studies
Proteus Syndrome   1 study
Protoporphyria, Erythropoietic   4 studies
Prune Belly Syndrome   1 study
Pseudohermaphroditism   2 studies
Pseudohypoaldosteronism   4 studies
Pseudohypoparathyroidism   4 studies
Pseudopseudohypoparathyroidism   2 studies
Pseudoxanthoma Elasticum   4 studies
Pulmonary Atresia   2 studies
Purine-Pyrimidine Metabolism, Inborn Errors   37 studies
Refsum Disease   2 studies
Refsum Disease, Infantile   2 studies
Respiratory Distress Syndrome, Newborn   19 studies
Retinitis Pigmentosa   39 studies
Retinopathy of Prematurity   31 studies
Retrognathism   1 study
Rett Syndrome   13 studies
Sandhoff Disease   6 studies
Septo-Optic Dysplasia   12 studies
Severe Combined Immunodeficiency   23 studies
Sex Differentiation Disorders   72 studies
Sickle Cell Trait   5 studies
Situs Inversus   15 studies
Skin Abnormalities   78 studies
Skin Diseases, Genetic   247 studies
Smith-Lemli-Opitz Syndrome   10 studies
Spastic Paraplegia, Hereditary   1 study
Sphingolipidoses   107 studies
Spinal Dysraphism   18 studies
Spinal Muscular Atrophies of Childhood   6 studies
Spinocerebellar Ataxias   13 studies
Spinocerebellar Degenerations   29 studies
Syndactyly   3 studies
Tangier Disease   1 study
Tay-Sachs Disease   9 studies
Telangiectasia, Hereditary Hemorrhagic   16 studies
Tetralogy of Fallot   17 studies
Thalassemia   111 studies
Thrombasthenia   2 studies
Tooth Abnormalities   3 studies
Tooth, Supernumerary   1 study
Tourette Syndrome   51 studies
Toxoplasmosis, Congenital   1 study
Transposition of Great Vessels   11 studies
Tricuspid Atresia   5 studies
Truncus Arteriosus, Persistent   1 study
Tuberous Sclerosis   14 studies
Turner Syndrome   35 studies
Tyrosinemias   2 studies
Unverricht-Lundborg Syndrome   4 studies
Urogenital Abnormalities   66 studies
Usher Syndromes   5 studies
Vascular Malformations   47 studies
Velopharyngeal Insufficiency   1 study
Von Willebrand Disease   29 studies
WAGR Syndrome   1 study
Werner Syndrome   1 study
Williams Syndrome   4 studies
Wilms Tumor   119 studies
Wiskott-Aldrich Syndrome   15 studies
Wolff-Parkinson-White Syndrome   2 studies
Wolman Disease   3 studies
X-Linked Combined Immunodeficiency Diseases   3 studies
Xanthomatosis, Cerebrotendinous   2 studies
Xeroderma Pigmentosum   5 studies
Zellweger Syndrome   2 studies