Conditions by Category > Diseases and Abnormalities at or Before Birth
- Abetalipoproteinemia (4)
- Abnormalities, Drug-Induced (3)
- Abnormalities, Multiple (974)
- Abnormalities, Radiation-Induced (4)
- Achondroplasia (30)
- Acidosis, Renal Tubular (9)
- Acrocephalosyndactylia (3)
- Acrodermatitis (5)
- Activated Protein C Resistance (2)
- Acute Chest Syndrome (33)
- Adenomatous Polyposis Coli (74)
- Adrenal Hyperplasia, Congenital (136)
- Adrenogenital Syndrome (136)
- Adrenoleukodystrophy (61)
- Afibrinogenemia (17)
- 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 (128)
- Alstrom Syndrome (6)
- Amelogenesis Imperfecta (7)
- Amino Acid Metabolism, Inborn Errors (313)
- Amniotic Band Syndrome (2)
- Amyloid Neuropathies, Familial (39)
- Amyloidosis, Familial (62)
- Andersen Syndrome (2)
- Androgen-Insensitivity Syndrome (2)
- Anemia, Diamond-Blackfan (57)
- Anemia, Dyserythropoietic, Congenital (6)
- Anemia, Hemolytic, Congenital (1,151)
- Anemia, Hemolytic, Congenital Nonspherocytic (13)
- Anemia, Hypoplastic, Congenital (110)
- Anemia, Neonatal (33)
- Anemia, Sickle Cell (890)
- Anencephaly (8)
- Angelman Syndrome (34)
- Angioedemas, Hereditary (131)
- Aniridia (15)
- Anodontia (53)
- Anomalous Left Coronary Artery (1)
- Anophthalmos (7)
- Anorectal Malformations (18)
- Antithrombin III Deficiency (14)
- Aortic Coarctation (37)
- Arachnodactyly (60)
- Arachnoid Cysts (1)
- Argininosuccinic Aciduria (8)
- Arnold-Chiari Malformation (23)
- Arrhythmogenic Right Ventricular Dysplasia (30)
- Arteriovenous Fistula (241)
- Arteriovenous Malformations (272)
- Arthritis, Gouty (35)
- Arthrogryposis (77)
- Aspartylglucosaminuria (5)
- Asphyxia Neonatorum (85)
- Ataxia Telangiectasia (41)
- Autoimmune Lymphoproliferative Syndrome (12)
- Bardet-Biedl Syndrome (13)
- Barth Syndrome (8)
- Basal Cell Nevus Syndrome (36)
- Beckwith-Wiedemann Syndrome (9)
- Behcet Syndrome (91)
- Bicuspid Aortic Valve Disease (42)
- Biliary Atresia (44)
- Biotinidase Deficiency (4)
- Birt-Hogg-Dube Syndrome (6)
- Birth Injuries (30)
- Bladder Exstrophy (12)
- Blood Coagulation Disorders, Inherited (882)
- Bloom Syndrome (1)
- Brachydactyly (2)
- Brain Diseases, Metabolic, Inborn (941)
- Bronchomalacia (2)
- Bronchopulmonary Dysplasia (270)
- Brugada Syndrome (43)
- Bulbo-Spinal Atrophy, X-Linked (18)
- CADASIL (20)
- CHARGE Syndrome (1)
- Canavan Disease (10)
- Carbamoyl-Phosphate Synthase I Deficiency Disease (8)
- Carbohydrate Metabolism, Inborn Errors (560)
- Cardiomyopathy, Dilated (211)
- Cardiomyopathy, Hypertrophic, Familial (7)
- Cardiovascular Abnormalities (1,973)
- Carney Complex (4)
- Caroli Disease (3)
- Carotid-Cavernous Sinus Fistula (1)
- Central Nervous System Cysts (3)
- Central Nervous System Vascular Malformations (54)
- Cerebral Amyloid Angiopathy, Familial (19)
- Charcot-Marie-Tooth Disease (483)
- Chediak-Higashi Syndrome (13)
- Cherubism (2)
- Choanal Atresia (1)
- Choledochal Cyst (7)
- Cholesterol Ester Storage Disease (30)
- Chondrodysplasia Punctata, Rhizomelic (3)
- Chorioamnionitis (34)
- Choroideremia (26)
- Chromosome Disorders (717)
- Ciliary Motility Disorders (54)
- Ciliopathies (257)
- Citrullinemia (11)
- Classical Lissencephalies and Subcortical Band Heterotopias (1)
- Cleft Lip (109)
- Cleft Palate (105)
- Cleidocranial Dysplasia (1)
- Clubfoot (112)
- Cockayne Syndrome (9)
- Coffin-Lowry Syndrome (1)
- Colic (180)
- Coloboma (9)
- Colorectal Neoplasms, Hereditary Nonpolyposis (87)
- Cone-Rod Dystrophies (18)
- Congenital Abnormalities (7,056)
- Congenital Bone Marrow Failure Syndromes (124)
- Congenital Disorders of Glycosylation (10)
- Congenital Hyperinsulinism (48)
- Congenital Hypothyroidism (15)
- Congenital Microtia (15)
- Congenitally Corrected Transposition of the Great Arteries (2)
- Coproporphyria, Hereditary (12)
- Corneal Dystrophies, Hereditary (95)
- Coronary Vessel Anomalies (25)
- Costello Syndrome (4)
- Craniofacial Abnormalities (362)
- Craniofacial Dysostosis (23)
- Craniosynostoses (56)
- Cri-du-Chat Syndrome (1)
- Crigler-Najjar Syndrome (12)
- Cryopyrin-Associated Periodic Syndromes (31)
- Cryptorchidism (28)
- Cutis Laxa (94)
- Cystic Adenomatoid Malformation of Lung, Congenital (4)
- Cystic Fibrosis (1,354)
- Cystinosis (31)
- Cystinuria (23)
- Darier Disease (8)
- De Lange Syndrome (4)
- Deaf-Blind Disorders (34)
- Dent Disease (10)
- Dental Enamel Hypoplasia (44)
- Dentinogenesis Imperfecta (2)
- Dentofacial Deformities (23)
- Denys-Drash Syndrome (2)
- Dermatitis, Atopic (1,027)
- Developmental Dysplasia of the Hip (127)
- Dextrocardia (35)
- DiGeorge Syndrome (45)
- Diaphragmatic Eventration (3)
- Diastema (4)
- Digestive System Abnormalities (148)
- Disorder of Sex Development, 46,XY (24)
- Disorders of Sex Development (276)
- Distal Myopathies (17)
- Double Outlet Right Ventricle (5)
- Down Syndrome (283)
- Duane Retraction Syndrome (1)
- Ductus Arteriosus, Patent (130)
- Dwarfism (307)
- Dysautonomia, Familial (12)
- Dyskeratosis Congenita (16)
- Dysplastic Nevus Syndrome (17)
- Dystonia Musculorum Deformans (1)
- Ebstein Anomaly (4)
- Ectodermal Dysplasia (37)
- Ectodermal Dysplasia 1, Anhidrotic (20)
- Ectopia Lentis (4)
- Ehlers-Danlos Syndrome (48)
- Eisenmenger Complex (23)
- Elliptocytosis, Hereditary (1)
- Ellis-Van Creveld Syndrome (1)
- Encephalocele (1)
- Endocardial Cushion Defects (14)
- Epidermolysis Bullosa (111)
- Epidermolysis Bullosa Acquisita (2)
- Epidermolysis Bullosa Dystrophica (57)
- Epidermolysis Bullosa Simplex (17)
- Epidermolysis Bullosa, Junctional (11)
- Epilepsy, Benign Neonatal (1)
- Epispadias (8)
- Equinus Deformity (112)
- Erythroblastosis, Fetal (23)
- Esophageal Atresia (30)
- Exostoses, Multiple Hereditary (13)
- Eye Abnormalities (80)
- Eye Diseases, Hereditary (745)
- Fabry Disease (190)
- 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 (2)
- Familial Hypophosphatemic Rickets (57)
- Familial Mediterranean Fever (153)
- Familial Multiple Lipomatosis (1)
- Fanconi Anemia (96)
- Fanconi Syndrome (105)
- Farber Lipogranulomatosis (2)
- Favism (1)
- Fetal Alcohol Spectrum Disorders (49)
- Fetal Diseases (341)
- Fetal Growth Retardation (228)
- Fetal Hypoxia (17)
- Fetal Macrosomia (52)
- Fetofetal Transfusion (21)
- Fetomaternal Transfusion (4)
- Flatfoot (69)
- Focal Dermal Hypoplasia (5)
- Foot Deformities, Congenital (278)
- Foramen Ovale, Patent (104)
- Fragile X Syndrome (88)
- Fraser Syndrome (1)
- Frasier Syndrome (2)
- Friedreich Ataxia (77)
- Fructose Intolerance (9)
- Fructose Metabolism, Inborn Errors (9)
- Fuchs' Endothelial Dystrophy (65)
- Fucosidosis (9)
- Funnel Chest (52)
- Fused Kidney (1)
- GATA2 Deficiency (9)
- Galactosemias (10)
- Gangliosidoses (37)
- Gangliosidoses, GM2 (24)
- Gangliosidosis, GM1 (18)
- Gardner Syndrome (1)
- Gastroschisis (39)
- Gaucher Disease (131)
- Genetic Diseases, Inborn (11,965)
- Genetic Diseases, X-Linked (1,221)
- Giant Axonal Neuropathy (2)
- Gilbert Disease (2)
- Gitelman Syndrome (5)
- Glucosephosphate Dehydrogenase Deficiency (46)
- Glycogen Storage Disease (181)
- Glycogen Storage Disease Type I (14)
- Glycogen Storage Disease Type II (130)
- Glycogen Storage Disease Type III (9)
- 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 (97)
- Gout (288)
- Granulomatous Disease, Chronic (70)
- Graves Ophthalmopathy (104)
- Gray Platelet Syndrome (2)
- Gyrate Atrophy (5)
- Hamartoma Syndrome, Multiple (19)
- Hand Deformities, Congenital (3)
- Heart Defects, Congenital (1,596)
- Heart Septal Defects (186)
- Heart Septal Defects, Atrial (132)
- Heart Septal Defects, Ventricular (54)
- Hemangioma, Cavernous, Central Nervous System (14)
- Hemimegalencephaly (2)
- Hemochromatosis (52)
- Hemoglobin C Disease (7)
- Hemoglobin SC Disease (32)
- Hemoglobinopathies (1,151)
- Hemophilia A (712)
- Hemophilia B (218)
- Hepatolenticular Degeneration (46)
- Hereditary Autoinflammatory Diseases (153)
- Hereditary Breast and Ovarian Cancer Syndrome (48)
- Hereditary Central Nervous System Demyelinating Diseases (96)
- Hereditary Complement Deficiency Diseases (117)
- Hereditary Sensory and Autonomic Neuropathies (15)
- Hereditary Sensory and Motor Neuropathy (483)
- Heredodegenerative Disorders, Nervous System (1,498)
- Hermanski-Pudlak Syndrome (10)
- Hernia, Umbilical (52)
- Hernias, Diaphragmatic, Congenital (74)
- Heterotaxy Syndrome (6)
- Hip Dislocation, Congenital (127)
- Hirschsprung Disease (48)
- Holoprosencephaly (5)
- Homocystinuria (11)
- Huntington Disease (221)
- Hyaline Membrane Disease (50)
- Hyalinosis, Systemic (1)
- Hydranencephaly (1)
- Hydrophthalmos (23)
- Hydrops Fetalis (8)
- Hyper-IgM Immunodeficiency Syndrome (18)
- Hyper-IgM Immunodeficiency Syndrome, Type 1 (13)
- Hyperandrogenism (83)
- Hyperargininemia (7)
- Hyperbilirubinemia, Neonatal (97)
- Hyperhomocysteinemia (44)
- Hyperkeratosis, Epidermolytic (3)
- Hyperlipidemia, Familial Combined (41)
- Hyperlipoproteinemia Type I (25)
- Hyperlipoproteinemia Type II (197)
- Hyperlipoproteinemia Type III (7)
- Hyperlipoproteinemia Type IV (7)
- Hyperlipoproteinemia Type V (12)
- Hyperoxaluria, Primary (40)
- Hypertelorism (13)
- Hypoalphalipoproteinemias (15)
- Hypobetalipoproteinemias (14)
- Hypokalemic Periodic Paralysis (3)
- Hypolipoproteinemias (26)
- Hypophosphatasia (33)
- Hypophosphatemia, Familial (53)
- Hypoplastic Left Heart Syndrome (60)
- Hypoprothrombinemias (1)
- Hypospadias (86)
- Ichthyosiform Erythroderma, Congenital (34)
- Ichthyosis (56)
- Ichthyosis Vulgaris (5)
- Ichthyosis, Lamellar (24)
- Ichthyosis, X-Linked (67)
- Incontinentia Pigmenti (1)
- Infant, Newborn, Diseases (3,740)
- Infant, Premature, Diseases (1,497)
- Intestinal Atresia (10)
- Intracranial Arteriovenous Malformations (34)
- Isolated Noncompaction of the Ventricular Myocardium (1)
- Jacobsen Distal 11q Deletion Syndrome (1)
- Jaundice, Neonatal (63)
- Jaw Abnormalities (166)
- Jervell-Lange Nielsen Syndrome (2)
- Job Syndrome (12)
- Kallmann Syndrome (22)
- Kartagener Syndrome (17)
- Keratoderma, Palmoplantar (3)
- Keratoderma, Palmoplantar, Diffuse (1)
- Kernicterus (8)
- Klinefelter Syndrome (33)
- Klippel-Feil Syndrome (4)
- LEOPARD Syndrome (2)
- Lactose Intolerance (40)
- Lafora Disease (2)
- Laminopathies (221)
- Laron Syndrome (2)
- Laryngomalacia (11)
- Laryngostenosis (6)
- Laurence-Moon Syndrome (13)
- Lecithin Cholesterol Acyltransferase Deficiency (4)
- Leigh Disease (16)
- Lennox Gastaut Syndrome (50)
- Lesch-Nyhan Syndrome (4)
- Leukocyte-Adhesion Deficiency Syndrome (5)
- Leukodystrophy, Globoid Cell (26)
- Leukodystrophy, Metachromatic (42)
- Leukomalacia, Periventricular (33)
- Li-Fraumeni Syndrome (17)
- Liddle Syndrome (1)
- Limb Deformities, Congenital (214)
- Lipid Metabolism, Inborn Errors (816)
- Lipidoses (494)
- Lipodystrophy, Congenital Generalized (11)
- Lipodystrophy, Familial Partial (12)
- Lissencephaly (4)
- Loeys-Dietz Syndrome (5)
- Long QT Syndrome (91)
- Lower Extremity Deformities, Congenital (131)
- Lymphangiectasis, Intestinal (1)
- Lymphatic Abnormalities (66)
- Lysosomal Storage Diseases (802)
- MELAS Syndrome (18)
- Machado-Joseph Disease (30)
- Malformations of Cortical Development (106)
- Malformations of Cortical Development, Group II (5)
- Mandibulofacial Dysostosis (11)
- Mannosidase Deficiency Diseases (26)
- Maple Syrup Urine Disease (5)
- Marfan Syndrome (62)
- Maxillofacial Abnormalities (193)
- May-Thurner Syndrome (15)
- Meconium Aspiration Syndrome (19)
- Megalencephaly (4)
- Meningocele (4)
- Meningomyelocele (47)
- Menkes Kinky Hair Syndrome (5)
- Mental Retardation, X-Linked (269)
- Metabolism, Inborn Errors (2,366)
- Metal Metabolism, Inborn Errors (203)
- Mevalonate Kinase Deficiency (4)
- Microcephaly (22)
- Micrognathism (27)
- Microphthalmos (8)
- Microstomia (4)
- Mineralocorticoid Excess Syndrome, Apparent (3)
- Mobius Syndrome (4)
- Mouth Abnormalities (179)
- Mucolipidoses (12)
- Mucopolysaccharidoses (198)
- Mucopolysaccharidosis I (63)
- Mucopolysaccharidosis II (66)
- Mucopolysaccharidosis III (40)
- Mucopolysaccharidosis IV (214)
- Mucopolysaccharidosis VI (31)
- Mucopolysaccharidosis VII (14)
- Muir-Torre Syndrome (5)
- Multicystic Dysplastic Kidney (9)
- Multiple Acyl Coenzyme A Dehydrogenase Deficiency (4)
- Multiple Endocrine Neoplasia (37)
- Multiple Endocrine Neoplasia Type 1 (18)
- Multiple Endocrine Neoplasia Type 2a (10)
- Multiple Endocrine Neoplasia Type 2b (6)
- Multiple Sulfatase Deficiency Disease (1)
- Muscular Dystrophies (574)
- Muscular Dystrophies, Limb-Girdle (45)
- Muscular Dystrophy, Duchenne (340)
- Muscular Dystrophy, Emery-Dreifuss (2)
- Muscular Dystrophy, Facioscapulohumeral (48)
- Muscular Dystrophy, Oculopharyngeal (12)
- Musculoskeletal Abnormalities (853)
- Myasthenic Syndromes, Congenital (11)
- Myocardial Bridging (7)
- Myotonia Congenita (7)
- Myotonic Dystrophy (70)
- Nail-Patella Syndrome (1)
- Neonatal Abstinence Syndrome (68)
- Neonatal Brachial Plexus Palsy (11)
- Neonatal Sepsis (141)
- Neoplastic Syndromes, Hereditary (700)
- Nephritis, Hereditary (20)
- Nervous System Malformations (464)
- Nesidioblastosis (1)
- Netherton Syndrome (10)
- Neural Tube Defects (153)
- Neuroacanthocytosis (1)
- Neurofibromatoses (276)
- Neurofibromatosis 1 (233)
- Neurofibromatosis 2 (52)
- Neuronal Ceroid-Lipofuscinoses (42)
- Nevus, Sebaceous of Jadassohn (5)
- Niemann-Pick Disease, Type A (54)
- Niemann-Pick Disease, Type B (1)
- Niemann-Pick Disease, Type C (54)
- Niemann-Pick Diseases (54)
- Noonan Syndrome (21)
- Nuchal Cord (2)
- Nystagmus, Congenital (3)
- Oculocerebrorenal Syndrome (6)
- Olivopontocerebellar Atrophies (3)
- 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 (26)
- Orofaciodigital Syndromes (2)
- Osteoarthropathy, Primary Hypertrophic (2)
- Osteochondrodysplasias (217)
- Osteogenesis Imperfecta (62)
- POEMS Syndrome (9)
- Pachyonychia Congenita (9)
- 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 (6)
- Pemphigus, Benign Familial (4)
- Pentalogy of Cantrell (3)
- Periventricular Nodular Heterotopia (1)
- Peroxisomal Disorders (67)
- Persistent Fetal Circulation Syndrome (35)
- Persistent Hyperplastic Primary Vitreous (1)
- Peutz-Jeghers Syndrome (17)
- Phenylketonuria, Maternal (3)
- Phenylketonurias (135)
- Piebaldism (4)
- Pierre Robin Syndrome (9)
- Plagiocephaly (18)
- Plagiocephaly, Nonsynostotic (12)
- Platybasia (1)
- Polycystic Kidney Diseases (156)
- Polycystic Kidney, Autosomal Dominant (131)
- Polycystic Kidney, Autosomal Recessive (5)
- Polydactyly (5)
- Polymicrogyria (4)
- Porokeratosis (2)
- Porphyria Cutanea Tarda (46)
- Porphyria, Acute Intermittent (19)
- Porphyria, Erythropoietic (54)
- Porphyria, Variegate (7)
- Porphyrias, Hepatic (46)
- Port-Wine Stain (83)
- Prader-Willi Syndrome (111)
- Primary Immunodeficiency Diseases (439)
- Progeria (9)
- Prognathism (35)
- Prolidase Deficiency (1)
- Propionic Acidemia (17)
- Protein C Deficiency (5)
- Proteus Syndrome (7)
- Protoporphyria, Erythropoietic (20)
- Pseudohypoaldosteronism (5)
- Pseudohypoparathyroidism (17)
- Pseudopseudohypoparathyroidism (17)
- Pseudoxanthoma Elasticum (22)
- Pulmonary Atresia (8)
- Purine-Pyrimidine Metabolism, Inborn Errors (174)
- Pyelectasis (1)
- Pyruvate Carboxylase Deficiency Disease (1)
- Pyruvate Dehydrogenase Complex Deficiency Disease (5)
- Pyruvate Metabolism, Inborn Errors (31)
- Refsum Disease (8)
- Refsum Disease, Infantile (4)
- Renal Tubular Transport, Inborn Errors (172)
- Respiratory Distress Syndrome, Newborn (1,389)
- Respiratory System Abnormalities (37)
- Retinitis Pigmentosa (232)
- Retinopathy of Prematurity (139)
- Retrognathia (18)
- Rett Syndrome (65)
- 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 (80)
- Sex Chromosome Disorders (197)
- Sialic Acid Storage Disease (1)
- Sickle Cell Trait (43)
- Silver-Russell Syndrome (4)
- Single Umbilical Artery (1)
- Situs Inversus (40)
- Sjogren-Larsson Syndrome (3)
- Skin Abnormalities (382)
- Skin Diseases, Genetic (1,577)
- Smith-Lemli-Opitz Syndrome (15)
- Smith-Magenis Syndrome (15)
- Sotos Syndrome (2)
- Spastic Paraplegia, Hereditary (23)
- Spherocytosis, Hereditary (5)
- Sphingolipidoses (417)
- Spina Bifida Cystica (47)
- Spina Bifida Occulta (3)
- Spinal Dysraphism (157)
- Spinal Muscular Atrophies of Childhood (21)
- Spinocerebellar Ataxias (188)
- Spinocerebellar Degenerations (188)
- Stargardt Disease (40)
- Steroid Metabolism, Inborn Errors (93)
- Stomatognathic System Abnormalities (377)
- Sulfatidosis (34)
- Syndactyly (8)
- Synostosis (62)
- Syphilis, Congenital (5)
- Talipes (112)
- Talipes Cavus (7)
- Tangier Disease (5)
- Tarsal Coalition (2)
- Tay-Sachs Disease (26)
- Tay-Sachs Disease, AB Variant (3)
- Telangiectasia, Hereditary Hemorrhagic (77)
- Tetralogy of Fallot (72)
- Thalassemia (400)
- Thrombasthenia (14)
- Thrombocytopenia, Neonatal Alloimmune (12)
- Thyroid Dysgenesis (2)
- Tooth Abnormalities (105)
- Tooth, Supernumerary (2)
- Tourette Syndrome (198)
- Toxoplasmosis, Congenital (6)
- Tracheobronchomalacia (14)
- Tracheobronchomegaly (1)
- Tracheomalacia (5)
- Transient Tachypnea of the Newborn (31)
- Transposition of Great Vessels (45)
- Trichothiodystrophy Syndromes (1)
- Tricuspid Atresia (10)
- Trisomy 13 Syndrome (22)
- Trisomy 18 Syndrome (24)
- Truncus Arteriosus, Persistent (4)
- Tuberous Sclerosis (86)
- Turner Syndrome (97)
- Twins, Conjoined (1)
- Tyrosinemias (14)
- Univentricular Heart (105)
- Unverricht-Lundborg Syndrome (5)
- Upper Extremity Deformities, Congenital (8)
- Urea Cycle Disorders, Inborn (69)
- Urogenital Abnormalities (428)
- Usher Syndromes (27)
- Vascular Malformations (424)
- Vascular Ring (2)
- Vein of Galen Malformations (2)
- Velopharyngeal Insufficiency (12)
- Vitelliform Macular Dystrophy (7)
- 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 (80)
- WAGR Syndrome (2)
- Waardenburg Syndrome (1)
- Walker-Warburg Syndrome (2)
- Werner Syndrome (2)
- Williams Syndrome (20)
- Wilms Tumor (234)
- Wiskott-Aldrich Syndrome (39)
- Wolf-Hirschhorn Syndrome (1)
- Wolff-Parkinson-White Syndrome (6)
- Wolfram Syndrome (9)
- Wolman Disease (31)
- X-Linked Combined Immunodeficiency Diseases (15)
- X-Linked Emery-Dreifuss Muscular Dystrophy (1)
- Xanthomatosis, Cerebrotendinous (10)
- Xeroderma Pigmentosum (13)
- Zellweger Syndrome (6)
- alpha-Mannosidosis (26)
- alpha-Thalassemia (17)
- beta-Mannosidosis (1)
- beta-Thalassemia (246)
- 22q11 Deletion Syndrome (43)
- 46, XX Disorders of Sex Development (58)