Conditions by Category > Diseases and Abnormalities at or Before Birth
- Abetalipoproteinemia (3)
- Abnormalities, Drug-Induced (3)
- Abnormalities, Multiple (911)
- Abnormalities, Radiation-Induced (4)
- Achondroplasia (25)
- Acidosis, Renal Tubular (9)
- Acrocephalosyndactylia (3)
- Acrodermatitis (5)
- Activated Protein C Resistance (2)
- Acute Chest Syndrome (33)
- Adenomatous Polyposis Coli (72)
- Adrenal Hyperplasia, Congenital (129)
- Adrenogenital Syndrome (129)
- Adrenoleukodystrophy (59)
- Afibrinogenemia (16)
- Agenesis of Corpus Callosum (15)
- Aicardi Syndrome (2)
- Alagille Syndrome (19)
- Albinism (35)
- Albinism, Ocular (4)
- Albinism, Oculocutaneous (14)
- Alexander Disease (4)
- Alkaptonuria (9)
- Alpha 1-Antitrypsin Deficiency (123)
- Alstrom Syndrome (6)
- Amelogenesis Imperfecta (6)
- Amino Acid Metabolism, Inborn Errors (298)
- Amniotic Band Syndrome (2)
- Amyloid Neuropathies, Familial (37)
- Amyloidosis, Familial (58)
- Andersen Syndrome (2)
- Androgen-Insensitivity Syndrome (2)
- Anemia, Diamond-Blackfan (56)
- Anemia, Dyserythropoietic, Congenital (6)
- Anemia, Hemolytic, Congenital (1,100)
- Anemia, Hemolytic, Congenital Nonspherocytic (11)
- Anemia, Hypoplastic, Congenital (109)
- Anemia, Neonatal (32)
- Anemia, Sickle Cell (851)
- Anencephaly (8)
- Angelman Syndrome (30)
- Angioedemas, Hereditary (123)
- Aniridia (15)
- Anodontia (47)
- Anomalous Left Coronary Artery (1)
- Anophthalmos (7)
- Anorectal Malformations (17)
- Antithrombin III Deficiency (14)
- Aortic Coarctation (34)
- Arachnodactyly (59)
- Arachnoid Cysts (1)
- Argininosuccinic Aciduria (8)
- Arnold-Chiari Malformation (22)
- Arrhythmogenic Right Ventricular Dysplasia (29)
- Arteriovenous Fistula (230)
- Arteriovenous Malformations (258)
- Arthritis, Gouty (29)
- Arthrogryposis (74)
- Aspartylglucosaminuria (5)
- Asphyxia Neonatorum (81)
- Ataxia Telangiectasia (39)
- Autoimmune Lymphoproliferative Syndrome (12)
- Bardet-Biedl Syndrome (11)
- Barth Syndrome (6)
- Basal Cell Nevus Syndrome (36)
- Beckwith-Wiedemann Syndrome (9)
- Behcet Syndrome (87)
- Bicuspid Aortic Valve Disease (41)
- Biliary Atresia (42)
- Biotinidase Deficiency (4)
- Birt-Hogg-Dube Syndrome (6)
- Birth Injuries (28)
- Bladder Exstrophy (12)
- Blood Coagulation Disorders, Inherited (852)
- Bloom Syndrome (1)
- Brachydactyly (2)
- Brain Diseases, Metabolic, Inborn (902)
- Bronchomalacia (2)
- Bronchopulmonary Dysplasia (261)
- Brugada Syndrome (39)
- Bulbo-Spinal Atrophy, X-Linked (15)
- CADASIL (20)
- CHARGE Syndrome (1)
- Canavan Disease (9)
- Carbamoyl-Phosphate Synthase I Deficiency Disease (8)
- Carbohydrate Metabolism, Inborn Errors (534)
- Cardiomyopathy, Dilated (205)
- Cardiomyopathy, Hypertrophic, Familial (6)
- Cardiovascular Abnormalities (1,873)
- Carney Complex (4)
- Caroli Disease (3)
- Carotid-Cavernous Sinus Fistula (1)
- Central Nervous System Cysts (3)
- Central Nervous System Vascular Malformations (50)
- Cerebral Amyloid Angiopathy, Familial (18)
- Charcot-Marie-Tooth Disease (435)
- Chediak-Higashi Syndrome (13)
- Cherubism (2)
- Choanal Atresia (1)
- Choledochal Cyst (6)
- Cholesterol Ester Storage Disease (29)
- Chondrodysplasia Punctata, Rhizomelic (3)
- Chorioamnionitis (33)
- Choroideremia (24)
- Chromosome Disorders (668)
- Ciliary Motility Disorders (52)
- Ciliopathies (245)
- Citrullinemia (11)
- Cleft Lip (105)
- Cleft Palate (100)
- Clubfoot (100)
- Cockayne Syndrome (8)
- Coffin-Lowry Syndrome (1)
- Colic (171)
- Coloboma (9)
- Colorectal Neoplasms, Hereditary Nonpolyposis (84)
- Cone-Rod Dystrophies (17)
- Congenital Abnormalities (6,644)
- Congenital Bone Marrow Failure Syndromes (122)
- Congenital Disorders of Glycosylation (9)
- Congenital Hyperinsulinism (47)
- Congenital Hypothyroidism (13)
- Congenital Microtia (14)
- Congenitally Corrected Transposition of the Great Arteries (2)
- Coproporphyria, Hereditary (11)
- Corneal Dystrophies, Hereditary (92)
- Coronary Vessel Anomalies (24)
- Costello Syndrome (3)
- Craniofacial Abnormalities (338)
- Craniofacial Dysostosis (23)
- Craniosynostoses (55)
- Cri-du-Chat Syndrome (1)
- Crigler-Najjar Syndrome (12)
- Cryopyrin-Associated Periodic Syndromes (29)
- Cryptorchidism (27)
- Cutis Laxa (88)
- Cystic Adenomatoid Malformation of Lung, Congenital (4)
- Cystic Fibrosis (1,314)
- Cystinosis (29)
- Cystinuria (23)
- Darier Disease (8)
- De Lange Syndrome (4)
- Dent Disease (10)
- Dental Enamel Hypoplasia (40)
- Dentinogenesis Imperfecta (2)
- Dentofacial Deformities (21)
- Denys-Drash Syndrome (2)
- Dermatitis, Atopic (968)
- Developmental Dysplasia of the Hip (117)
- Dextrocardia (34)
- DiGeorge Syndrome (41)
- Diaphragmatic Eventration (3)
- Diastema (4)
- Digestive System Abnormalities (140)
- Disorder of Sex Development, 46,XY (24)
- Disorders of Sex Development (265)
- Distal Myopathies (17)
- Double Outlet Right Ventricle (5)
- Down Syndrome (258)
- Duane Retraction Syndrome (1)
- Ductus Arteriosus, Patent (126)
- Dwarfism (291)
- Dysautonomia, Familial (12)
- Dyskeratosis Congenita (16)
- Dysplastic Nevus Syndrome (17)
- Ebstein Anomaly (3)
- Ectodermal Dysplasia (36)
- Ectodermal Dysplasia 1, Anhidrotic (20)
- Ectopia Lentis (4)
- Ehlers-Danlos Syndrome (43)
- Eisenmenger Complex (23)
- Elliptocytosis, Hereditary (1)
- Ellis-Van Creveld Syndrome (1)
- Encephalocele (1)
- Endocardial Cushion Defects (13)
- Epidermolysis Bullosa (105)
- Epidermolysis Bullosa Acquisita (2)
- Epidermolysis Bullosa Dystrophica (55)
- Epidermolysis Bullosa Simplex (17)
- Epidermolysis Bullosa, Junctional (10)
- Epilepsy, Benign Neonatal (1)
- Epispadias (8)
- Equinus Deformity (100)
- Erythroblastosis, Fetal (23)
- Esophageal Atresia (28)
- Exostoses, Multiple Hereditary (13)
- Eye Abnormalities (74)
- Eye Diseases, Hereditary (717)
- Fabry Disease (184)
- Factor V Deficiency (1)
- Factor VII Deficiency (6)
- Factor X Deficiency (4)
- Factor XI Deficiency (3)
- Factor XII Deficiency (1)
- Factor XIII Deficiency (12)
- Familial Exudative Vitreoretinopathies (1)
- Familial Hypophosphatemic Rickets (55)
- Familial Mediterranean Fever (144)
- Familial Multiple Lipomatosis (1)
- Fanconi Anemia (94)
- Fanconi Syndrome (103)
- Farber Lipogranulomatosis (2)
- Favism (1)
- Fetal Alcohol Spectrum Disorders (47)
- Fetal Diseases (325)
- Fetal Growth Retardation (218)
- Fetal Hypoxia (16)
- Fetal Macrosomia (51)
- Fetofetal Transfusion (20)
- Fetomaternal Transfusion (4)
- Flatfoot (58)
- Focal Dermal Hypoplasia (5)
- Foot Deformities, Congenital (254)
- Foramen Ovale, Patent (100)
- Fragile X Syndrome (82)
- Fraser Syndrome (1)
- Frasier Syndrome (2)
- Friedreich Ataxia (74)
- Fructose Intolerance (9)
- Fructose Metabolism, Inborn Errors (9)
- Fuchs' Endothelial Dystrophy (63)
- Fucosidosis (9)
- Funnel Chest (50)
- GATA2 Deficiency (8)
- Galactosemias (10)
- Gangliosidoses (36)
- Gangliosidoses, GM2 (24)
- Gangliosidosis, GM1 (17)
- Gardner Syndrome (1)
- Gastroschisis (38)
- Gaucher Disease (128)
- Genetic Diseases, Inborn (11,391)
- Genetic Diseases, X-Linked (1,163)
- Giant Axonal Neuropathy (2)
- Gilbert Disease (2)
- Gitelman Syndrome (5)
- Glucosephosphate Dehydrogenase Deficiency (44)
- Glycogen Storage Disease (173)
- Glycogen Storage Disease Type I (12)
- Glycogen Storage Disease Type II (127)
- Glycogen Storage Disease Type III (8)
- Glycogen Storage Disease Type IIb (2)
- Glycogen Storage Disease Type IV (4)
- Glycogen Storage Disease Type V (16)
- Glycogen Storage Disease Type VI (3)
- Glycogen Storage Disease Type VII (4)
- Glycogen Storage Disease Type VIII (1)
- Glycosuria, Renal (3)
- Goldenhar Syndrome (9)
- Gonadal Dysgenesis (93)
- Gout (273)
- Granulomatous Disease, Chronic (66)
- Graves Ophthalmopathy (96)
- Gray Platelet Syndrome (2)
- Gyrate Atrophy (4)
- Hamartoma Syndrome, Multiple (19)
- Hand Deformities, Congenital (3)
- Heart Defects, Congenital (1,515)
- Heart Septal Defects (177)
- Heart Septal Defects, Atrial (127)
- Heart Septal Defects, Ventricular (50)
- Hemangioma, Cavernous, Central Nervous System (12)
- Hemimegalencephaly (2)
- Hemochromatosis (50)
- Hemoglobin C Disease (7)
- Hemoglobin SC Disease (32)
- Hemoglobinopathies (1,099)
- Hemophilia A (684)
- Hemophilia B (209)
- Hepatolenticular Degeneration (42)
- Hereditary Autoinflammatory Diseases (144)
- Hereditary Breast and Ovarian Cancer Syndrome (46)
- Hereditary Central Nervous System Demyelinating Diseases (93)
- Hereditary Complement Deficiency Diseases (110)
- Hereditary Sensory and Autonomic Neuropathies (15)
- Hereditary Sensory and Motor Neuropathy (435)
- Heredodegenerative Disorders, Nervous System (1,403)
- Hermanski-Pudlak Syndrome (10)
- Hernia, Umbilical (50)
- Hernias, Diaphragmatic, Congenital (70)
- Heterotaxy Syndrome (6)
- Hip Dislocation, Congenital (117)
- Hirschsprung Disease (45)
- Holoprosencephaly (5)
- Homocystinuria (10)
- Huntington Disease (205)
- Hyaline Membrane Disease (50)
- Hyalinosis, Systemic (1)
- Hydranencephaly (1)
- Hydrophthalmos (21)
- Hydrops Fetalis (8)
- Hyper-IgM Immunodeficiency Syndrome (18)
- Hyper-IgM Immunodeficiency Syndrome, Type 1 (13)
- Hyperandrogenism (80)
- Hyperargininemia (7)
- Hyperbilirubinemia, Neonatal (85)
- Hyperhomocysteinemia (43)
- Hyperkeratosis, Epidermolytic (2)
- Hyperlipidemia, Familial Combined (38)
- Hyperlipoproteinemia Type I (23)
- Hyperlipoproteinemia Type II (186)
- Hyperlipoproteinemia Type III (6)
- Hyperlipoproteinemia Type IV (7)
- Hyperlipoproteinemia Type V (12)
- Hyperoxaluria, Primary (39)
- Hypertelorism (13)
- Hypoalphalipoproteinemias (15)
- Hypobetalipoproteinemias (13)
- Hypokalemic Periodic Paralysis (3)
- Hypolipoproteinemias (25)
- Hypophosphatasia (32)
- Hypophosphatemia, Familial (52)
- Hypoplastic Left Heart Syndrome (60)
- Hypoprothrombinemias (1)
- Hypospadias (79)
- Ichthyosiform Erythroderma, Congenital (31)
- Ichthyosis (51)
- Ichthyosis Vulgaris (5)
- Ichthyosis, Lamellar (22)
- Ichthyosis, X-Linked (65)
- Incontinentia Pigmenti (1)
- Infant, Newborn, Diseases (3,569)
- Infant, Premature, Diseases (1,413)
- Intestinal Atresia (8)
- Intracranial Arteriovenous Malformations (33)
- Isolated Noncompaction of the Ventricular Myocardium (1)
- Jacobsen Distal 11q Deletion Syndrome (1)
- Jaundice, Neonatal (55)
- Jaw Abnormalities (156)
- Jervell-Lange Nielsen Syndrome (2)
- Job Syndrome (12)
- Kallmann Syndrome (22)
- Kartagener Syndrome (16)
- Keratoderma, Palmoplantar (3)
- Keratoderma, Palmoplantar, Diffuse (1)
- Kernicterus (8)
- Klinefelter Syndrome (32)
- Klippel-Feil Syndrome (4)
- LEOPARD Syndrome (2)
- Lactose Intolerance (37)
- Lafora Disease (2)
- Laminopathies (216)
- Laron Syndrome (2)
- Laryngomalacia (10)
- Laryngostenosis (5)
- Laurence-Moon Syndrome (11)
- Lecithin Cholesterol Acyltransferase Deficiency (4)
- Leigh Disease (14)
- Lennox Gastaut Syndrome (46)
- Lesch-Nyhan Syndrome (4)
- Leukocyte-Adhesion Deficiency Syndrome (5)
- Leukodystrophy, Globoid Cell (27)
- Leukodystrophy, Metachromatic (41)
- Leukomalacia, Periventricular (33)
- Li-Fraumeni Syndrome (16)
- Liddle Syndrome (1)
- Limb Deformities, Congenital (195)
- Lipid Metabolism, Inborn Errors (786)
- Lipidoses (479)
- Lipodystrophy, Congenital Generalized (11)
- Lipodystrophy, Familial Partial (12)
- Loeys-Dietz Syndrome (5)
- Long QT Syndrome (89)
- Lower Extremity Deformities, Congenital (116)
- Lymphangiectasis, Intestinal (1)
- Lymphatic Abnormalities (62)
- Lysosomal Storage Diseases (780)
- MELAS Syndrome (17)
- Machado-Joseph Disease (29)
- Malformations of Cortical Development (94)
- Malformations of Cortical Development, Group II (4)
- Mandibulofacial Dysostosis (11)
- Mannosidase Deficiency Diseases (27)
- Maple Syrup Urine Disease (5)
- Marfan Syndrome (61)
- Maxillofacial Abnormalities (181)
- May-Thurner Syndrome (15)
- Meconium Aspiration Syndrome (19)
- Megalencephaly (4)
- Meningocele (3)
- Meningomyelocele (46)
- Menkes Kinky Hair Syndrome (5)
- Mental Retardation, X-Linked (253)
- Metabolism, Inborn Errors (2,262)
- Metal Metabolism, Inborn Errors (196)
- Mevalonate Kinase Deficiency (4)
- Microcephaly (21)
- Micrognathism (26)
- Microphthalmos (8)
- Microstomia (4)
- Mineralocorticoid Excess Syndrome, Apparent (3)
- Mobius Syndrome (4)
- Mouth Abnormalities (172)
- Mucolipidoses (12)
- Mucopolysaccharidoses (191)
- Mucopolysaccharidosis I (63)
- Mucopolysaccharidosis II (62)
- Mucopolysaccharidosis III (39)
- Mucopolysaccharidosis IV (199)
- Mucopolysaccharidosis VI (29)
- Mucopolysaccharidosis VII (13)
- Muir-Torre Syndrome (3)
- Multicystic Dysplastic Kidney (9)
- Multiple Acyl Coenzyme A Dehydrogenase Deficiency (4)
- Multiple Endocrine Neoplasia (36)
- Multiple Endocrine Neoplasia Type 1 (18)
- Multiple Endocrine Neoplasia Type 2a (9)
- Multiple Endocrine Neoplasia Type 2b (5)
- Multiple Sulfatase Deficiency Disease (2)
- Muscular Dystrophies (539)
- Muscular Dystrophies, Limb-Girdle (41)
- Muscular Dystrophy, Duchenne (319)
- Muscular Dystrophy, Emery-Dreifuss (2)
- Muscular Dystrophy, Facioscapulohumeral (45)
- Muscular Dystrophy, Oculopharyngeal (12)
- Musculoskeletal Abnormalities (792)
- Myasthenic Syndromes, Congenital (11)
- Myocardial Bridging (6)
- Myotonia Congenita (7)
- Myotonic Dystrophy (69)
- Nail-Patella Syndrome (1)
- Neonatal Abstinence Syndrome (66)
- Neonatal Brachial Plexus Palsy (11)
- Neonatal Sepsis (132)
- Neoplastic Syndromes, Hereditary (667)
- Nephritis, Hereditary (18)
- Nervous System Malformations (425)
- Nesidioblastosis (1)
- Netherton Syndrome (9)
- Neural Tube Defects (143)
- Neuroacanthocytosis (1)
- Neurofibromatoses (260)
- Neurofibromatosis 1 (219)
- Neurofibromatosis 2 (50)
- Neuronal Ceroid-Lipofuscinoses (39)
- Nevus, Sebaceous of Jadassohn (5)
- Niemann-Pick Disease, Type A (52)
- Niemann-Pick Disease, Type B (1)
- Niemann-Pick Disease, Type C (52)
- Niemann-Pick Diseases (52)
- Noonan Syndrome (17)
- Nuchal Cord (2)
- Nystagmus, Congenital (3)
- Oculocerebrorenal Syndrome (6)
- Olivopontocerebellar Atrophies (2)
- Ophthalmia Neonatorum (2)
- Optic Atrophies, Hereditary (41)
- Optic Atrophy, Autosomal Dominant (5)
- Optic Atrophy, Hereditary, Leber (34)
- Optic Nerve Hypoplasia (3)
- Ornithine Carbamoyltransferase Deficiency Disease (24)
- Orofaciodigital Syndromes (2)
- Osteoarthropathy, Primary Hypertrophic (2)
- Osteochondrodysplasias (202)
- Osteogenesis Imperfecta (56)
- POEMS Syndrome (7)
- Pachyonychia Congenita (8)
- Pain Insensitivity, Congenital (4)
- Pallister-Hall Syndrome (1)
- Pantothenate Kinase-Associated Neurodegeneration (10)
- Papillon-Lefevre Disease (1)
- Paralysis, Hyperkalemic Periodic (3)
- Paralysis, Obstetric (2)
- Pectus Carinatum (15)
- Pelizaeus-Merzbacher Disease (7)
- Pemphigus, Benign Familial (4)
- Pentalogy of Cantrell (3)
- Periventricular Nodular Heterotopia (1)
- Peroxisomal Disorders (65)
- Persistent Fetal Circulation Syndrome (35)
- Persistent Hyperplastic Primary Vitreous (1)
- Peutz-Jeghers Syndrome (17)
- Phenylketonuria, Maternal (3)
- Phenylketonurias (125)
- Piebaldism (4)
- Pierre Robin Syndrome (9)
- Plagiocephaly (17)
- Plagiocephaly, Nonsynostotic (11)
- Platybasia (1)
- Polycystic Kidney Diseases (148)
- Polycystic Kidney, Autosomal Dominant (126)
- Polycystic Kidney, Autosomal Recessive (5)
- Polydactyly (5)
- Polymicrogyria (4)
- Porokeratosis (2)
- Porphyria Cutanea Tarda (44)
- Porphyria, Acute Intermittent (19)
- Porphyria, Erythropoietic (52)
- Porphyria, Variegate (7)
- Porphyrias, Hepatic (44)
- Port-Wine Stain (80)
- Prader-Willi Syndrome (104)
- Primary Immunodeficiency Diseases (424)
- Progeria (9)
- Prognathism (30)
- Prolidase Deficiency (1)
- Propionic Acidemia (15)
- Protein C Deficiency (5)
- Proteus Syndrome (7)
- Protoporphyria, Erythropoietic (19)
- Pseudohypoaldosteronism (5)
- Pseudohypoparathyroidism (17)
- Pseudopseudohypoparathyroidism (17)
- Pseudoxanthoma Elasticum (21)
- Pulmonary Atresia (8)
- Purine-Pyrimidine Metabolism, Inborn Errors (165)
- Pyelectasis (1)
- Pyruvate Carboxylase Deficiency Disease (1)
- Pyruvate Dehydrogenase Complex Deficiency Disease (4)
- Pyruvate Metabolism, Inborn Errors (27)
- Refsum Disease (8)
- Refsum Disease, Infantile (4)
- Renal Tubular Transport, Inborn Errors (171)
- Respiratory Distress Syndrome, Newborn (1,311)
- Respiratory System Abnormalities (35)
- Retinitis Pigmentosa (219)
- Retinopathy of Prematurity (129)
- Retrognathia (16)
- Rett Syndrome (63)
- Romano-Ward Syndrome (4)
- Rothmund-Thomson Syndrome (2)
- Rubella Syndrome, Congenital (2)
- Rubinstein-Taybi Syndrome (3)
- Sandhoff Disease (21)
- Sarcoglycanopathies (6)
- Scimitar Syndrome (5)
- Septo-Optic Dysplasia (2)
- Severe Combined Immunodeficiency (79)
- Sex Chromosome Disorders (188)
- Sialic Acid Storage Disease (1)
- Sickle Cell Trait (42)
- Silver-Russell Syndrome (4)
- Situs Inversus (37)
- Sjogren-Larsson Syndrome (3)
- Skin Abnormalities (360)
- Skin Diseases, Genetic (1,487)
- Smith-Lemli-Opitz Syndrome (15)
- Smith-Magenis Syndrome (13)
- Sotos Syndrome (2)
- Spastic Paraplegia, Hereditary (20)
- Spherocytosis, Hereditary (5)
- Sphingolipidoses (406)
- Spina Bifida Cystica (46)
- Spina Bifida Occulta (2)
- Spinal Dysraphism (147)
- Spinal Muscular Atrophies of Childhood (20)
- Spinocerebellar Ataxias (180)
- Spinocerebellar Degenerations (180)
- Stargardt Disease (37)
- Steroid Metabolism, Inborn Errors (87)
- Stomatognathic System Abnormalities (354)
- Sulfatidosis (34)
- Syndactyly (8)
- Synostosis (61)
- Syphilis, Congenital (4)
- Talipes (100)
- Talipes Cavus (6)
- Tangier Disease (5)
- Tarsal Coalition (2)
- Tay-Sachs Disease (26)
- Tay-Sachs Disease, AB Variant (3)
- Telangiectasia, Hereditary Hemorrhagic (76)
- Tetralogy of Fallot (65)
- Thalassemia (388)
- Thrombasthenia (13)
- Thrombocytopenia, Neonatal Alloimmune (11)
- Thyroid Dysgenesis (2)
- Tooth Abnormalities (96)
- Tooth, Supernumerary (2)
- Tourette Syndrome (186)
- Toxoplasmosis, Congenital (6)
- Tracheobronchomalacia (13)
- Tracheobronchomegaly (1)
- Tracheomalacia (5)
- Transient Tachypnea of the Newborn (31)
- Transposition of Great Vessels (42)
- Trichothiodystrophy Syndromes (1)
- Tricuspid Atresia (10)
- Trisomy 13 Syndrome (22)
- Trisomy 18 Syndrome (24)
- Truncus Arteriosus, Persistent (4)
- Tuberous Sclerosis (74)
- Turner Syndrome (93)
- Twins, Conjoined (1)
- Tyrosinemias (14)
- Univentricular Heart (102)
- Unverricht-Lundborg Syndrome (5)
- Upper Extremity Deformities, Congenital (7)
- Urea Cycle Disorders, Inborn (66)
- Urogenital Abnormalities (408)
- Usher Syndromes (24)
- Vascular Malformations (404)
- Vascular Ring (2)
- Vein of Galen Malformations (2)
- Velopharyngeal Insufficiency (11)
- Vitelliform Macular Dystrophy (6)
- Von Hippel-Lindau Disease (39)
- Von Willebrand Disease, Type 1 (4)
- Von Willebrand Disease, Type 2 (3)
- Von Willebrand Disease, Type 3 (3)
- Von Willebrand Diseases (77)
- WAGR Syndrome (2)
- Waardenburg Syndrome (1)
- Walker-Warburg Syndrome (2)
- Werner Syndrome (2)
- Williams Syndrome (19)
- Wilms Tumor (228)
- Wiskott-Aldrich Syndrome (39)
- Wolf-Hirschhorn Syndrome (1)
- Wolff-Parkinson-White Syndrome (6)
- Wolfram Syndrome (9)
- Wolman Disease (30)
- X-Linked Combined Immunodeficiency Diseases (15)
- X-Linked Emery-Dreifuss Muscular Dystrophy (1)
- Xanthomatosis, Cerebrotendinous (9)
- Xeroderma Pigmentosum (11)
- Zellweger Syndrome (6)
- alpha-Mannosidosis (27)
- alpha-Thalassemia (17)
- beta-Mannosidosis (1)
- beta-Thalassemia (237)
- 22q11 Deletion Syndrome (39)
- 46, XX Disorders of Sex Development (57)