Conditions by Category > Diseases and Abnormalities at or Before Birth
- Abetalipoproteinemia (3)
- Abnormalities, Drug-Induced (2)
- Abnormalities, Multiple (740)
- Abnormalities, Radiation-Induced (4)
- Achondroplasia (21)
- Acidosis, Renal Tubular (9)
- Acrodermatitis (4)
- Activated Protein C Resistance (1)
- Acute Chest Syndrome (30)
- Adenomatous Polyposis Coli (57)
- Adrenal Hyperplasia, Congenital (107)
- Adrenogenital Syndrome (107)
- Adrenoleukodystrophy (48)
- Afibrinogenemia (14)
- Agenesis of Corpus Callosum (13)
- Aicardi Syndrome (2)
- Alagille Syndrome (14)
- Albinism (31)
- Albinism, Ocular (3)
- Albinism, Oculocutaneous (13)
- Alexander Disease (1)
- Alkaptonuria (5)
- Alpha 1-Antitrypsin Deficiency (85)
- Alstrom Syndrome (5)
- Amelogenesis Imperfecta (3)
- Amino Acid Metabolism, Inborn Errors (244)
- Amyloid Neuropathies, Familial (25)
- Amyloidosis, Familial (40)
- Andersen Syndrome (2)
- Anemia, Diamond-Blackfan (52)
- Anemia, Dyserythropoietic, Congenital (4)
- Anemia, Hemolytic, Congenital (922)
- Anemia, Hemolytic, Congenital Nonspherocytic (7)
- Anemia, Hypoplastic, Congenital (101)
- Anemia, Neonatal (27)
- Anemia, Sickle Cell (714)
- Anencephaly (7)
- Angelman Syndrome (21)
- Angioedemas, Hereditary (87)
- Aniridia (16)
- Anodontia (34)
- Anophthalmos (3)
- Anorectal Malformations (9)
- Antithrombin III Deficiency (10)
- Aortic Coarctation (27)
- Arachnodactyly (45)
- Argininosuccinic Aciduria (5)
- Arnold-Chiari Malformation (18)
- Arrhythmogenic Right Ventricular Dysplasia (22)
- Arteriovenous Fistula (177)
- Arteriovenous Malformations (193)
- Arthritis, Gouty (20)
- Arthrogryposis (6)
- Aspartylglucosaminuria (5)
- Asphyxia Neonatorum (68)
- Ataxia Telangiectasia (29)
- Autoimmune Lymphoproliferative Syndrome (10)
- Bardet-Biedl Syndrome (8)
- Barth Syndrome (6)
- Basal Cell Nevus Syndrome (32)
- Beckwith-Wiedemann Syndrome (7)
- Behcet Syndrome (66)
- Biliary Atresia (30)
- Biotinidase Deficiency (4)
- Birt-Hogg-Dube Syndrome (6)
- Birth Injuries (21)
- Bladder Exstrophy (9)
- Blood Coagulation Disorders, Inherited (714)
- Bloom Syndrome (1)
- Brachydactyly (2)
- Brain Diseases, Metabolic, Inborn (725)
- Bronchomalacia (2)
- Bronchopulmonary Dysplasia (208)
- Brugada Syndrome (27)
- Bulbo-Spinal Atrophy, X-Linked (10)
- CADASIL (12)
- Canavan Disease (6)
- Carbamoyl-Phosphate Synthase I Deficiency Disease (8)
- Carbohydrate Metabolism, Inborn Errors (441)
- Cardiomyopathy, Hypertrophic, Familial (6)
- Cardiovascular Abnormalities (1,302)
- Carney Complex (4)
- Caroli Disease (3)
- Carotid-Cavernous Sinus Fistula (1)
- Central Nervous System Cysts (2)
- Central Nervous System Vascular Malformations (36)
- Cerebral Amyloid Angiopathy, Familial (12)
- Charcot-Marie-Tooth Disease (324)
- Cherubism (2)
- Choanal Atresia (1)
- Choledochal Cyst (5)
- Cholesterol Ester Storage Disease (27)
- Chondrodysplasia Punctata, Rhizomelic (2)
- Chorioamnionitis (29)
- Choroideremia (20)
- Chromosome Disorders (761)
- Ciliary Motility Disorders (36)
- Ciliopathies (201)
- Citrullinemia (8)
- Cleft Lip (68)
- Cleft Palate (79)
- Clubfoot (73)
- Cockayne Syndrome (7)
- Colic (144)
- Coloboma (6)
- Colorectal Neoplasms, Hereditary Nonpolyposis (65)
- Cone-Rod Dystrophies (13)
- Congenital Abnormalities (5,070)
- Congenital Disorders of Glycosylation (5)
- Congenital Hyperinsulinism (34)
- Congenital Hypothyroidism (10)
- Congenital Microtia (7)
- Coproporphyria, Hereditary (9)
- Corneal Dystrophies, Hereditary (52)
- Coronary Vessel Anomalies (3)
- Costello Syndrome (1)
- Craniofacial Abnormalities (254)
- Craniofacial Dysostosis (22)
- Craniosynostoses (46)
- Cri-du-Chat Syndrome (1)
- Crigler-Najjar Syndrome (11)
- Cryopyrin-Associated Periodic Syndromes (24)
- Cryptorchidism (21)
- Cutis Laxa (62)
- Cystic Adenomatoid Malformation of Lung, Congenital (3)
- Cystic Fibrosis (1,120)
- Cystinosis (27)
- Cystinuria (17)
- Darier Disease (7)
- De Lange Syndrome (2)
- Dent Disease (9)
- Dental Enamel Hypoplasia (22)
- Dentinogenesis Imperfecta (1)
- Dentofacial Deformities (14)
- Denys-Drash Syndrome (2)
- Dermatitis, Atopic (757)
- Dextrocardia (49)
- DiGeorge Syndrome (34)
- Diaphragmatic Eventration (2)
- Diastema (2)
- Digestive System Abnormalities (101)
- Disorders of Sex Development (257)
- Distal Myopathies (15)
- Double Outlet Right Ventricle (3)
- Down Syndrome (201)
- Duane Retraction Syndrome (1)
- Ductus Arteriosus, Patent (102)
- Dwarfism (261)
- Dysautonomia, Familial (12)
- Dyskeratosis Congenita (15)
- Dysplastic Nevus Syndrome (15)
- Dystonia Musculorum Deformans (1)
- Ebstein Anomaly (3)
- Ectodermal Dysplasia (33)
- Ectodermal Dysplasia 1, Anhidrotic (17)
- Ehlers-Danlos Syndrome (31)
- Eisenmenger Complex (22)
- Elliptocytosis, Hereditary (1)
- Ellis-Van Creveld Syndrome (1)
- Encephalocele (1)
- Endocardial Cushion Defects (12)
- Epidermolysis Bullosa (79)
- Epidermolysis Bullosa Acquisita (2)
- Epidermolysis Bullosa Dystrophica (35)
- Epidermolysis Bullosa Simplex (11)
- Epidermolysis Bullosa, Junctional (4)
- Epispadias (6)
- Equinus Deformity (73)
- Erythroblastosis, Fetal (20)
- Esophageal Atresia (22)
- Exostoses, Multiple Hereditary (11)
- Eye Abnormalities (49)
- Eye Diseases, Hereditary (531)
- Fabry Disease (154)
- Factor V Deficiency (1)
- Factor VII Deficiency (5)
- Factor X Deficiency (4)
- Factor XI Deficiency (3)
- Factor XII Deficiency (1)
- Factor XIII Deficiency (11)
- Familial Hypophosphatemic Rickets (38)
- Familial Mediterranean Fever (114)
- Familial Multiple Lipomatosis (1)
- Fanconi Anemia (85)
- Fanconi Syndrome (94)
- Farber Lipogranulomatosis (2)
- Favism (1)
- Fetal Alcohol Spectrum Disorders (39)
- Fetal Diseases (254)
- Fetal Growth Retardation (167)
- Fetal Hypoxia (13)
- Fetal Macrosomia (39)
- Fetofetal Transfusion (14)
- Fetomaternal Transfusion (4)
- Flatfoot (36)
- Focal Dermal Hypoplasia (5)
- Foot Deformities, Congenital (186)
- Foramen Ovale, Patent (69)
- Fragile X Syndrome (72)
- Fraser Syndrome (1)
- Frasier Syndrome (2)
- Friedreich Ataxia (56)
- Fructose Intolerance (9)
- Fructose Metabolism, Inborn Errors (9)
- Fuchs' Endothelial Dystrophy (44)
- Fucosidosis (9)
- Funnel Chest (40)
- GATA2 Deficiency (6)
- Galactosemias (7)
- Gangliosidoses (25)
- Gangliosidoses, GM2 (19)
- Gangliosidosis, GM1 (10)
- Gardner Syndrome (1)
- Gastroschisis (32)
- Gaucher Disease (106)
- Genetic Diseases, Inborn (9,029)
- Genetic Diseases, X-Linked (1,018)
- Giant Axonal Neuropathy (2)
- Gilbert Disease (2)
- Gitelman Syndrome (4)
- Glucosephosphate Dehydrogenase Deficiency (40)
- Glycogen Storage Disease (135)
- Glycogen Storage Disease Type I (9)
- Glycogen Storage Disease Type II (105)
- Glycogen Storage Disease Type III (6)
- Glycogen Storage Disease Type IIb (2)
- Glycogen Storage Disease Type IV (4)
- Glycogen Storage Disease Type V (11)
- Glycogen Storage Disease Type VI (2)
- Glycogen Storage Disease Type VII (4)
- Glycogen Storage Disease Type VIII (1)
- Glycosuria, Renal (2)
- Goldenhar Syndrome (9)
- Gonadal Dysgenesis (166)
- Gout (218)
- Granulomatous Disease, Chronic (65)
- Graves Ophthalmopathy (73)
- Gray Platelet Syndrome (2)
- Gyrate Atrophy (3)
- Hamartoma Syndrome, Multiple (17)
- Hand Deformities, Congenital (2)
- Heart Defects, Congenital (1,000)
- Heart Septal Defects (138)
- Heart Septal Defects, Atrial (95)
- Heart Septal Defects, Ventricular (42)
- Hemangioma, Cavernous, Central Nervous System (10)
- Hemochromatosis (48)
- Hemoglobin C Disease (7)
- Hemoglobin SC Disease (24)
- Hemoglobinopathies (925)
- Hemophilia A (575)
- Hemophilia B (191)
- Hepatolenticular Degeneration (25)
- Hereditary Autoinflammatory Diseases (114)
- Hereditary Breast and Ovarian Cancer Syndrome (39)
- Hereditary Central Nervous System Demyelinating Diseases (77)
- Hereditary Sensory and Autonomic Neuropathies (15)
- Hereditary Sensory and Motor Neuropathy (324)
- Heredodegenerative Disorders, Nervous System (1,161)
- Hermanski-Pudlak Syndrome (7)
- Hernia, Umbilical (40)
- Hernias, Diaphragmatic, Congenital (55)
- Heterotaxy Syndrome (6)
- Hip Dislocation, Congenital (95)
- Hirschsprung Disease (26)
- Holoprosencephaly (4)
- Homocystinuria (9)
- Huntington Disease (171)
- Hyaline Membrane Disease (42)
- Hyalinosis, Systemic (1)
- Hydranencephaly (1)
- Hydrophthalmos (20)
- Hydrops Fetalis (7)
- Hyper-IgM Immunodeficiency Syndrome (14)
- Hyper-IgM Immunodeficiency Syndrome, Type 1 (13)
- Hyperandrogenism (70)
- Hyperargininemia (4)
- Hyperbilirubinemia, Neonatal (67)
- Hyperhomocysteinemia (41)
- Hyperkeratosis, Epidermolytic (2)
- Hyperlipidemia, Familial Combined (37)
- Hyperlipoproteinemia Type I (19)
- Hyperlipoproteinemia Type II (149)
- Hyperlipoproteinemia Type III (5)
- Hyperlipoproteinemia Type IV (7)
- Hyperlipoproteinemia Type V (9)
- Hyperoxaluria, Primary (32)
- Hypertelorism (13)
- Hypoalphalipoproteinemias (14)
- Hypobetalipoproteinemias (9)
- Hypokalemic Periodic Paralysis (3)
- Hypolipoproteinemias (24)
- Hypophosphatasia (25)
- Hypophosphatemia, Familial (38)
- Hypoplastic Left Heart Syndrome (52)
- Hypoprothrombinemias (1)
- Hypospadias (56)
- Ichthyosiform Erythroderma, Congenital (26)
- Ichthyosis (40)
- Ichthyosis Vulgaris (4)
- Ichthyosis, Lamellar (18)
- Ichthyosis, X-Linked (56)
- Incontinentia Pigmenti (1)
- Infant, Newborn, Diseases (2,766)
- Infant, Premature, Diseases (969)
- Intestinal Atresia (6)
- Intracranial Arteriovenous Malformations (22)
- Isolated Noncompaction of the Ventricular Myocardium (1)
- Jaundice, Neonatal (42)
- Jaw Abnormalities (109)
- Jervell-Lange Nielsen Syndrome (2)
- Kallmann Syndrome (20)
- Kartagener Syndrome (35)
- Keratoderma, Palmoplantar (2)
- Keratoderma, Palmoplantar, Diffuse (1)
- Kernicterus (7)
- Klinefelter Syndrome (29)
- Klippel-Feil Syndrome (4)
- LEOPARD Syndrome (1)
- Lactose Intolerance (35)
- Lafora Disease (2)
- Laron Syndrome (2)
- Laryngomalacia (9)
- Laryngostenosis (4)
- Laurence-Moon Syndrome (8)
- Lecithin Cholesterol Acyltransferase Deficiency (3)
- Leigh Disease (11)
- Lennox Gastaut Syndrome (39)
- Lesch-Nyhan Syndrome (4)
- Leukodystrophy, Globoid Cell (23)
- Leukodystrophy, Metachromatic (35)
- Leukomalacia, Periventricular (30)
- Li-Fraumeni Syndrome (13)
- Liddle Syndrome (1)
- Limb Deformities, Congenital (141)
- Lipid Metabolism, Inborn Errors (648)
- Lipidoses (392)
- Lipodystrophy, Congenital Generalized (9)
- Loeys-Dietz Syndrome (4)
- Long QT Syndrome (75)
- Lower Extremity Deformities, Congenital (82)
- Lymphangiectasis, Intestinal (1)
- Lymphatic Abnormalities (48)
- Lysosomal Storage Diseases (660)
- MELAS Syndrome (13)
- Machado-Joseph Disease (20)
- Malformations of Cortical Development (79)
- Malformations of Cortical Development, Group II (4)
- Mannosidase Deficiency Diseases (25)
- Maple Syrup Urine Disease (2)
- Marfan Syndrome (46)
- Maxillofacial Abnormalities (124)
- May-Thurner Syndrome (12)
- Meconium Aspiration Syndrome (19)
- Megalencephaly (3)
- Meningocele (1)
- Meningomyelocele (33)
- Menkes Kinky Hair Syndrome (3)
- Mental Retardation, X-Linked (229)
- Metabolism, Inborn Errors (1,935)
- Metal Metabolism, Inborn Errors (150)
- Mevalonate Kinase Deficiency (4)
- Microcephaly (18)
- Micrognathism (11)
- Microphthalmos (5)
- Microstomia (1)
- Mineralocorticoid Excess Syndrome, Apparent (1)
- Mobius Syndrome (4)
- Mouth Abnormalities (118)
- Mucolipidoses (11)
- Mucopolysaccharidoses (164)
- Mucopolysaccharidosis I (55)
- Mucopolysaccharidosis II (50)
- Mucopolysaccharidosis III (36)
- Mucopolysaccharidosis IV (166)
- Mucopolysaccharidosis VI (28)
- Mucopolysaccharidosis VII (12)
- Muir-Torre Syndrome (3)
- Multicystic Dysplastic Kidney (8)
- Multiple Acyl Coenzyme A Dehydrogenase Deficiency (3)
- Multiple Endocrine Neoplasia (31)
- Multiple Endocrine Neoplasia Type 1 (15)
- Multiple Endocrine Neoplasia Type 2a (8)
- Multiple Endocrine Neoplasia Type 2b (5)
- Multiple Sulfatase Deficiency Disease (1)
- Muscular Dystrophies (443)
- Muscular Dystrophies, Limb-Girdle (33)
- Muscular Dystrophy, Duchenne (260)
- Muscular Dystrophy, Emery-Dreifuss (1)
- Muscular Dystrophy, Facioscapulohumeral (33)
- Muscular Dystrophy, Oculopharyngeal (11)
- Musculoskeletal Abnormalities (547)
- Myasthenic Syndromes, Congenital (11)
- Myocardial Bridging (1)
- Myotonia Congenita (6)
- Myotonic Dystrophy (50)
- Nail-Patella Syndrome (1)
- Neonatal Abstinence Syndrome (57)
- Neonatal Brachial Plexus Palsy (7)
- Neonatal Sepsis (108)
- Neoplastic Syndromes, Hereditary (550)
- Nephritis, Hereditary (14)
- Nervous System Malformations (343)
- Nesidioblastosis (1)
- Netherton Syndrome (7)
- Neural Tube Defects (112)
- Neuroacanthocytosis (1)
- Neurofibromatoses (215)
- Neurofibromatosis 1 (184)
- Neurofibromatosis 2 (44)
- Neuronal Ceroid-Lipofuscinoses (28)
- Nevus, Sebaceous of Jadassohn (4)
- Niemann-Pick Disease, Type A (46)
- Niemann-Pick Disease, Type B (1)
- Niemann-Pick Disease, Type C (46)
- Niemann-Pick Diseases (46)
- Noonan Syndrome (13)
- Nuchal Cord (2)
- Nystagmus, Congenital (3)
- Oculocerebrorenal Syndrome (5)
- Olivopontocerebellar Atrophies (2)
- Ophthalmia Neonatorum (2)
- Optic Atrophies, Hereditary (36)
- Optic Atrophy, Autosomal Dominant (5)
- Optic Atrophy, Hereditary, Leber (30)
- Ornithine Carbamoyltransferase Deficiency Disease (15)
- Orofaciodigital Syndromes (2)
- Osteoarthropathy, Primary Hypertrophic (2)
- Osteochondrodysplasias (168)
- Osteogenesis Imperfecta (45)
- POEMS Syndrome (6)
- Pachyonychia Congenita (7)
- Pain Insensitivity, Congenital (4)
- Pallister-Hall Syndrome (1)
- Pantothenate Kinase-Associated Neurodegeneration (8)
- Papillon-Lefevre Disease (1)
- Paralysis, Hyperkalemic Periodic (3)
- Paralysis, Obstetric (1)
- Pectus Carinatum (7)
- Pelizaeus-Merzbacher Disease (5)
- Pemphigus, Benign Familial (3)
- Pentalogy of Cantrell (3)
- Periventricular Nodular Heterotopia (1)
- Peroxisomal Disorders (54)
- Persistent Fetal Circulation Syndrome (28)
- Persistent Hyperplastic Primary Vitreous (1)
- Peutz-Jeghers Syndrome (16)
- Phenylketonurias (96)
- Piebaldism (4)
- Pierre Robin Syndrome (8)
- Plagiocephaly (14)
- Plagiocephaly, Nonsynostotic (9)
- Platybasia (1)
- Polycystic Kidney Diseases (126)
- Polycystic Kidney, Autosomal Dominant (107)
- Polycystic Kidney, Autosomal Recessive (3)
- Polydactyly (4)
- Polymicrogyria (3)
- Porokeratosis (1)
- Porphyria Cutanea Tarda (38)
- Porphyria, Acute Intermittent (19)
- Porphyria, Erythropoietic (46)
- Porphyria, Variegate (7)
- Porphyrias, Hepatic (38)
- Port-Wine Stain (71)
- Prader-Willi Syndrome (87)
- Progeria (8)
- Prognathism (18)
- Prolidase Deficiency (1)
- Propionic Acidemia (9)
- Protein C Deficiency (3)
- Proteus Syndrome (5)
- Protoporphyria, Erythropoietic (15)
- Pseudohypoaldosteronism (4)
- Pseudohypoparathyroidism (12)
- Pseudopseudohypoparathyroidism (12)
- Pseudoxanthoma Elasticum (15)
- Pulmonary Atresia (6)
- Purine-Pyrimidine Metabolism, Inborn Errors (134)
- Pyelectasis (1)
- Pyruvate Carboxylase Deficiency Disease (1)
- Pyruvate Dehydrogenase Complex Deficiency Disease (3)
- Pyruvate Metabolism, Inborn Errors (19)
- Refsum Disease (6)
- Refsum Disease, Infantile (4)
- Renal Tubular Transport, Inborn Errors (145)
- Respiratory Distress Syndrome, Newborn (878)
- Respiratory System Abnormalities (48)
- Retinitis Pigmentosa (161)
- Retinopathy of Prematurity (103)
- Retrognathia (11)
- Rett Syndrome (71)
- Romano-Ward Syndrome (3)
- Rothmund-Thomson Syndrome (2)
- Rubella Syndrome, Congenital (1)
- Rubinstein-Taybi Syndrome (1)
- Sandhoff Disease (16)
- Sarcoglycanopathies (4)
- Scimitar Syndrome (1)
- Septo-Optic Dysplasia (2)
- Severe Combined Immunodeficiency (67)
- Sex Chromosome Disorders (198)
- Sialic Acid Storage Disease (1)
- Sickle Cell Trait (28)
- Silver-Russell Syndrome (3)
- Situs Inversus (50)
- Sjogren-Larsson Syndrome (3)
- Skin Abnormalities (287)
- Skin Diseases, Genetic (1,164)
- Smith-Lemli-Opitz Syndrome (14)
- Smith-Magenis Syndrome (12)
- Spastic Paraplegia, Hereditary (13)
- Spherocytosis, Hereditary (4)
- Sphingolipidoses (334)
- Spina Bifida Cystica (33)
- Spina Bifida Occulta (2)
- Spinal Dysraphism (116)
- Spinal Muscular Atrophies of Childhood (19)
- Spinocerebellar Ataxias (138)
- Spinocerebellar Degenerations (138)
- Steroid Metabolism, Inborn Errors (69)
- Stomatognathic System Abnormalities (230)
- Sulfatidosis (30)
- Syndactyly (6)
- Syphilis, Congenital (3)
- Talipes (73)
- Tangier Disease (5)
- Tay-Sachs Disease (21)
- Telangiectasia, Hereditary Hemorrhagic (61)
- Tetralogy of Fallot (54)
- Thalassemia (337)
- Thrombasthenia (10)
- Thrombocytopenia, Neonatal Alloimmune (9)
- Thyroid Dysgenesis (1)
- Tooth Abnormalities (64)
- Tooth, Supernumerary (2)
- Tourette Syndrome (161)
- Toxoplasmosis, Congenital (5)
- Tracheobronchomalacia (10)
- Tracheobronchomegaly (1)
- Tracheomalacia (5)
- Transient Tachypnea of the Newborn (25)
- Transposition of Great Vessels (34)
- Trichothiodystrophy Syndromes (1)
- Tricuspid Atresia (7)
- Trisomy 13 Syndrome (20)
- Trisomy 18 Syndrome (23)
- Truncus Arteriosus, Persistent (2)
- Tuberous Sclerosis (62)
- Turner Syndrome (166)
- Twins, Conjoined (1)
- Tyrosinemias (10)
- Unverricht-Lundborg Syndrome (5)
- Upper Extremity Deformities, Congenital (3)
- Urea Cycle Disorders, Inborn (57)
- Urogenital Abnormalities (359)
- Usher Syndromes (17)
- Vascular Malformations (313)
- Vascular Ring (1)
- Vein of Galen Malformations (1)
- Velopharyngeal Insufficiency (10)
- Vitelliform Macular Dystrophy (5)
- Von Hippel-Lindau Disease (37)
- Von Willebrand Disease, Type 1 (5)
- Von Willebrand Disease, Type 2 (2)
- Von Willebrand Disease, Type 3 (3)
- Von Willebrand Diseases (60)
- WAGR Syndrome (2)
- Waardenburg Syndrome (1)
- Walker-Warburg Syndrome (2)
- Werner Syndrome (1)
- Williams Syndrome (16)
- Wilms Tumor (205)
- Wiskott-Aldrich Syndrome (36)
- Wolf-Hirschhorn Syndrome (1)
- Wolff-Parkinson-White Syndrome (4)
- Wolfram Syndrome (8)
- Wolman Disease (28)
- X-Linked Combined Immunodeficiency Diseases (14)
- Xanthomatosis, Cerebrotendinous (5)
- Xeroderma Pigmentosum (9)
- Zellweger Syndrome (5)
- alpha-Mannosidosis (25)
- alpha-Thalassemia (13)
- beta-Mannosidosis (1)
- beta-Thalassemia (197)
- 22q11 Deletion Syndrome (34)
- 46, XX Disorders of Sex Development (50)