Abetalipoproteinemia   2 studies
Abnormalities, Drug-Induced   1 study
Abnormalities, Multiple   103 studies
Abnormalities, Radiation-Induced   3 studies
Achondroplasia   1 study
Acrodermatitis   8 studies
Adenomatous Polyposis Coli   20 studies
Adrenal Hyperplasia, Congenital   16 studies
Adrenoleukodystrophy   29 studies
Afibrinogenemia   1 study
Alagille Syndrome   3 studies
Albinism   8 studies
Albinism, Ocular   1 study
Albinism, Oculocutaneous   6 studies
Alkaptonuria   2 studies
Alpha-Mannosidosis   5 studies
Alpha-Thalassemia   3 studies
Amino Acid Metabolism, Inborn Errors   56 studies
Amyloid Neuropathies, Familial   3 studies
Amyloidosis, Familial   3 studies
Andersen Syndrome   2 studies
Anemia, Diamond-Blackfan   20 studies
Anemia, Hemolytic, Congenital   221 studies
Anemia, Hemolytic, Congenital Nonspherocytic   1 study
Anemia, Neonatal   7 studies
Anemia, Sickle Cell   167 studies
Anencephaly   4 studies
Angelman Syndrome   5 studies
Angioedema, Hereditary   21 studies
Aniridia   8 studies
Anodontia   2 studies
Anophthalmos   2 studies
Antithrombin III Deficiency   4 studies
Aortic Coarctation   7 studies
Arachnodactyly   10 studies
Arnold-Chiari Malformation   16 studies
Arrhythmogenic Right Ventricular Dysplasia   3 studies
Arteriovenous Fistula   17 studies
Arteriovenous Malformations   24 studies
Arthritis, Gouty   5 studies
Asphyxia Neonatorum   10 studies
Ataxia Telangiectasia   35 studies
Bardet-Biedl Syndrome   3 studies
Basal Cell Nevus Syndrome   7 studies
Beta-Thalassemia   42 studies
Biliary Atresia   7 studies
Birth Injuries   3 studies
Bladder Exstrophy   1 study
Bloom Syndrome   1 study
Brain Diseases, Metabolic, Inborn   190 studies
Bronchopulmonary Dysplasia   45 studies
Brugada Syndrome   5 studies
Canavan Disease   3 studies
Carbamoyl-Phosphate Synthase I Deficiency Disease   1 study
Cardiomyopathy, Hypertrophic, Familial   3 studies
Cardiovascular Abnormalities   266 studies
Caroli Disease   1 study
Charcot-Marie-Tooth Disease   45 studies
Cholesterol Ester Storage Disease   3 studies
Chorioamnionitis   13 studies
Choroideremia   1 study
Chromosome Disorders   113 studies
Citrullinemia   2 studies
Cleft Lip   13 studies
Cleft Palate   20 studies
Cockayne Syndrome   1 study
Coloboma   2 studies
Colorectal Neoplasms, Hereditary Nonpolyposis   17 studies
Congenital Abnormalities   1305 studies
Congenital Hypothyroidism   4 studies
Corneal Dystrophies, Hereditary   12 studies
Craniofacial Abnormalities   36 studies
Craniosynostoses   7 studies
Crigler-Najjar Syndrome   1 study
Cryptorchidism   4 studies
Cutis Laxa   4 studies
Cystic Adenomatoid Malformation of Lung, Congenital   2 studies
Cystic Fibrosis   286 studies
Cystinosis   11 studies
Cystinuria   2 studies
Dermatitis, Atopic   156 studies
Dextrocardia   12 studies
DiGeorge Syndrome   16 studies
Digestive System Abnormalities   70 studies
Dihydropyrimidine Dehydrogenase Deficiency   6 studies
Double Outlet Right Ventricle   1 study
Down Syndrome   36 studies
Ductus Arteriosus, Patent   24 studies
Dwarfism   97 studies
Dyskeratosis Congenita   4 studies
Dysplastic Nevus Syndrome   3 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   13 studies
Epidermolysis Bullosa Acquisita   1 study
Epidermolysis Bullosa Dystrophica   4 studies
Epidermolysis Bullosa, Junctional   1 study
Erythroblastosis, Fetal   4 studies
Esophageal Atresia   1 study
Exostoses, Multiple Hereditary   3 studies
Eye Abnormalities   11 studies
Eye Diseases, Hereditary   79 studies
Fabry Disease   45 studies
Factor XIII Deficiency   4 studies
Familial Mediterranean Fever   7 studies
Fanconi Anemia   33 studies
Fanconi Syndrome   8 studies
Favism   1 study
Fetal Alcohol Syndrome   10 studies
Fetal Diseases   58 studies
Fetal Growth Retardation   31 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   15 studies
Fragile X Syndrome   13 studies
Friedreich Ataxia   12 studies
Fuchs' Endothelial Dystrophy   8 studies
Fucosidosis   4 studies
Funnel Chest   4 studies
Galactosemias   2 studies
Gangliosidoses   8 studies
Gangliosidoses, GM2   7 studies
Gangliosidosis, GM1   3 studies
Gastroschisis   3 studies
Gaucher Disease   36 studies
Genetic Diseases, Inborn   1960 studies
Genetic Diseases, X-Linked   195 studies
Glucosephosphate Dehydrogenase Deficiency   2 studies
Glycogen Storage Disease   33 studies
Glycogen Storage Disease Type I   8 studies
Glycogen Storage Disease Type II   31 studies
Glycogen Storage Disease Type VII   1 study
Gonadal Dysgenesis   32 studies
Gout   28 studies
Granulomatous Disease, Chronic   24 studies
Gyrate Atrophy   2 studies
Hamartoma Syndrome, Multiple   4 studies
Heart Defects, Congenital   227 studies
Heart Septal Defects   39 studies
Heart Septal Defects, Atrial   24 studies
Heart Septal Defects, Ventricular   17 studies
Hemochromatosis   23 studies
Hemoglobin SC Disease   12 studies
Hemoglobinopathies   227 studies
Hemophilia A   114 studies
Hemophilia B   31 studies
Hepatolenticular Degeneration   4 studies
Hereditary Motor and Sensory Neuropathies   45 studies
Heredodegenerative Disorders, Nervous System   249 studies
Hermanski-Pudlak Syndrome   5 studies
Hernia, Umbilical   9 studies
Hip Dislocation, Congenital   19 studies
Hirschsprung Disease   3 studies
Holoprosencephaly   5 studies
Homocystinuria   2 studies
Huntington Disease   42 studies
Hyaline Membrane Disease   5 studies
Hydrocephalus   28 studies
Hydrophthalmos   3 studies
Hydrops Fetalis   1 study
Hyper-IgM Immunodeficiency Syndrome, Type 1   9 studies
Hyperbilirubinemia, Neonatal   9 studies
Hyperhomocysteinemia   13 studies
Hyperkeratosis, Epidermolytic   1 study
Hyperlipidemia, Familial Combined   21 studies
Hyperlipoproteinemia Type I   1 study
Hyperlipoproteinemia Type II   40 studies
Hyperlipoproteinemia Type III   3 studies
Hyperlipoproteinemia Type IV   4 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   3 studies
Hypophosphatemia, Familial   6 studies
Hypophosphatemic Rickets, X-Linked Dominant   5 studies
Hypoplastic Left Heart Syndrome   12 studies
Ichthyosis   9 studies
Ichthyosis Vulgaris   1 study
Ichthyosis, Lamellar   3 studies
Ichthyosis, X-Linked   1 study
Infant, Newborn, Diseases   509 studies
Infant, Premature, Diseases   94 studies
Intracranial Arteriovenous Malformations   2 studies
Jaundice, Neonatal   4 studies
Kallmann Syndrome   12 studies
Kartagener Syndrome   10 studies
Keratoderma, Palmoplantar   1 study
Keratoderma, Palmoplantar, Diffuse   1 study
Keratosis Follicularis   3 studies
Klinefelter Syndrome   5 studies
Lactose Intolerance   4 studies
Lafora Disease   1 study
Laron Syndrome   2 studies
Lesch-Nyhan Syndrome   1 study
Leukodystrophy, Globoid Cell   7 studies
Leukodystrophy, Metachromatic   10 studies
Leukomalacia, Periventricular   12 studies
Li-Fraumeni Syndrome   1 study
Lipid Metabolism, Inborn Errors   186 studies
Lipidoses   104 studies
Long QT Syndrome   15 studies
Lymphatic Abnormalities   5 studies
Lysosomal Storage Diseases   175 studies
Malformations of Cortical Development   16 studies
Mannosidase Deficiency Diseases   5 studies
Marfan Syndrome   10 studies
Maxillofacial Abnormalities   19 studies
Meconium Aspiration Syndrome   7 studies
MELAS Syndrome   3 studies
Meningocele   3 studies
Meningomyelocele   4 studies
Menkes Kinky Hair Syndrome   2 studies
Metabolism, Inborn Errors   481 studies
Mevalonate Kinase Deficiency   1 study
Microcephaly   2 studies
Microphthalmos   3 studies
Mineralocorticoid Excess Syndrome, Apparent   1 study
Mobius Syndrome   2 studies
Mucolipidoses   4 studies
Mucopolysaccharidoses   34 studies
Mucopolysaccharidosis I   21 studies
Mucopolysaccharidosis II   8 studies
Mucopolysaccharidosis IV   3 studies
Mucopolysaccharidosis VI   9 studies
Mucopolysaccharidosis VII   1 study
Multicystic Dysplastic Kidney   1 study
Multiple Endocrine Neoplasia   9 studies
Muscular Dystrophies   56 studies
Muscular Dystrophies, Limb-Girdle   6 studies
Muscular Dystrophy, Duchenne   32 studies
Muscular Dystrophy, Facioscapulohumeral   5 studies
Muscular Dystrophy, Oculopharyngeal   2 studies
Musculoskeletal Abnormalities   74 studies
Myasthenic Syndromes, Congenital   1 study
Myotonia Congenita   1 study
Myotonic Dystrophy   18 studies
Nail-Patella Syndrome   1 study
Neonatal Abstinence Syndrome   7 studies
Neoplastic Syndromes, Hereditary   123 studies
Nephritis, Hereditary   3 studies
Nervous System Malformations   64 studies
Neural Tube Defects   25 studies
Neuroacanthocytosis   1 study
Neurocutaneous Syndromes   69 studies
Neurofibromatoses   42 studies
Neurofibromatosis 1   42 studies
Neurofibromatosis 2   8 studies
Neuronal Ceroid-Lipofuscinoses   5 studies
Neuronal Migration Disorders   1 study
Niemann-Pick Disease, Type A   8 studies
Niemann-Pick Disease, Type B   1 study
Niemann-Pick Disease, Type C   8 studies
Niemann-Pick Diseases   8 studies
Noonan Syndrome   2 studies
Nystagmus, Congenital   3 studies
Oculocerebrorenal Syndrome   3 studies
Ophthalmia Neonatorum   1 study
Optic Atrophies, Hereditary   8 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   13 studies
Pachyonychia Congenita   1 study
Paralyses, Familial Periodic   3 studies
Paralysis, Hyperkalemic Periodic   1 study
Pemphigus, Benign Familial   1 study
Peroxisomal Disorders   16 studies
Persistent Fetal Circulation Syndrome   11 studies
Persistent Hyperinsulinemia Hypoglycemia of Infancy   3 studies
Peutz-Jeghers Syndrome   5 studies
Phenylketonuria, Maternal   1 study
Phenylketonurias   24 studies
Piebaldism   1 study
Platybasia   1 study
Polydactyly   2 studies
Porokeratosis   1 study
Porphyria Cutanea Tarda   3 studies
Porphyria, Acute Intermittent   3 studies
Porphyria, Erythropoietic   15 studies
Porphyrias   15 studies
Porphyrias, Hepatic   8 studies
Port-Wine Stain   14 studies
Prader-Willi Syndrome   14 studies
Progeria   4 studies
Protein C Deficiency   2 studies
Proteus Syndrome   1 study
Protoporphyria, Erythropoietic   3 studies
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   27 studies
Refsum Disease   2 studies
Refsum Disease, Infantile   2 studies
Respiratory Distress Syndrome, Newborn   18 studies
Retinitis Pigmentosa   35 studies
Retinopathy of Prematurity   28 studies
Retrognathism   1 study
Rett Syndrome   12 studies
Sandhoff Disease   6 studies
Septo-Optic Dysplasia   12 studies
Severe Combined Immunodeficiency   23 studies
Sex Differentiation Disorders   67 studies
Sickle Cell Trait   5 studies
Situs Inversus   14 studies
Skin Abnormalities   65 studies
Skin Diseases, Genetic   219 studies
Smith-Lemli-Opitz Syndrome   9 studies
Spastic Paraplegia, Hereditary   1 study
Sphingolipidoses   101 studies
Spinal Dysraphism   16 studies
Spinal Muscular Atrophies of Childhood   6 studies
Spinocerebellar Ataxias   8 studies
Spinocerebellar Degenerations   21 studies
Syndactyly   2 studies
Tangier Disease   1 study
Tay-Sachs Disease   8 studies
Telangiectasia, Hereditary Hemorrhagic   16 studies
Tetralogy of Fallot   17 studies
Thalassemia   101 studies
Thrombasthenia   2 studies
Tooth Abnormalities   2 studies
Tourette Syndrome   49 studies
Toxoplasmosis, Congenital   1 study
Transposition of Great Vessels   10 studies
Tricuspid Atresia   4 studies
Truncus Arteriosus, Persistent   1 study
Tuberous Sclerosis   13 studies
Turner Syndrome   34 studies
Tyrosinemias   2 studies
Unverricht-Lundborg Syndrome   4 studies
Urogenital Abnormalities   58 studies
Usher Syndromes   5 studies
Vascular Malformations   43 studies
Velopharyngeal Insufficiency   1 study
Von Willebrand Disease   26 studies
WAGR Syndrome   1 study
Werner Syndrome   1 study
Williams Syndrome   4 studies
Wilms Tumor   110 studies
Wiskott-Aldrich Syndrome   14 studies
Wolff-Parkinson-White Syndrome   2 studies
Wolman Disease   3 studies
X-Linked Combined Immunodeficiency Diseases   3 studies
Xanthomatosis, Cerebrotendinous   2 studies
Xeroderma Pigmentosum   6 studies
Zellweger Syndrome   2 studies