Conditions by Category > Diseases and Abnormalities at or Before Birth
- Abetalipoproteinemia (4)
- Abnormalities, Drug-Induced (3)
- Abnormalities, Multiple (1,018)
- 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 (77)
- Adrenal Hyperplasia, Congenital (136)
- Adrenogenital Syndrome (136)
- Adrenoleukodystrophy (62)
- Afibrinogenemia (17)
- Agenesis of Corpus Callosum (15)
- Aicardi Syndrome (2)
- Alagille Syndrome (21)
- Albinism (35)
- Albinism, Ocular (4)
- Albinism, Oculocutaneous (14)
- Alexander Disease (4)
- Alkaptonuria (9)
- Alpha 1-Antitrypsin Deficiency (129)
- Alstrom Syndrome (6)
- Amelogenesis Imperfecta (7)
- Amino Acid Metabolism, Inborn Errors (322)
- Amniotic Band Syndrome (2)
- Amyloid Neuropathies, Familial (40)
- Amyloidosis, Familial (67)
- Andersen Syndrome (2)
- Androgen-Insensitivity Syndrome (2)
- Anemia, Diamond-Blackfan (57)
- Anemia, Dyserythropoietic, Congenital (6)
- Anemia, Hemolytic, Congenital (1,189)
- Anemia, Hemolytic, Congenital Nonspherocytic (13)
- Anemia, Hypoplastic, Congenital (110)
- Anemia, Neonatal (35)
- Anemia, Sickle Cell (918)
- Anencephaly (9)
- Angelman Syndrome (34)
- Angioedemas, Hereditary (142)
- Aniridia (17)
- Anodontia (60)
- Anomalous Left Coronary Artery (1)
- Anophthalmos (7)
- Anorectal Malformations (20)
- Antithrombin III Deficiency (14)
- Aortic Coarctation (39)
- Arachnodactyly (44)
- Arachnoid Cysts (1)
- Argininosuccinic Aciduria (8)
- Arnold-Chiari Malformation (23)
- Arrhythmogenic Right Ventricular Dysplasia (32)
- Arteriovenous Fistula (254)
- Arteriovenous Malformations (287)
- Arthritis, Gouty (37)
- Arthrogryposis (85)
- Aspartylglucosaminuria (5)
- Asphyxia Neonatorum (88)
- Ataxia Telangiectasia (43)
- Autoimmune Lymphoproliferative Syndrome (12)
- Autosomal Emery-Dreifuss Muscular Dystrophy (1)
- Bardet-Biedl Syndrome (14)
- Barth Syndrome (7)
- Basal Cell Nevus Syndrome (37)
- Beckwith-Wiedemann Syndrome (9)
- Behcet Syndrome (92)
- Bicuspid Aortic Valve Disease (45)
- Biliary Atresia (50)
- Biotinidase Deficiency (4)
- Birt-Hogg-Dube Syndrome (7)
- Birth Injuries (33)
- Bladder Exstrophy (12)
- Blood Coagulation Disorders, Inherited (897)
- Bloom Syndrome (1)
- Brachydactyly (2)
- Brain Diseases, Metabolic, Inborn (965)
- Bronchomalacia (15)
- Bronchopulmonary Dysplasia (276)
- Brugada Syndrome (44)
- Bulbo-Spinal Atrophy, X-Linked (20)
- CADASIL (22)
- CHARGE Syndrome (1)
- Canavan Disease (10)
- Carbamoyl-Phosphate Synthase I Deficiency Disease (8)
- Carbohydrate Metabolism, Inborn Errors (577)
- Cardiomyopathy, Dilated (214)
- Cardiomyopathy, Hypertrophic, Familial (7)
- Cardiovascular Abnormalities (2,038)
- Carney Complex (4)
- Caroli Disease (3)
- Carotid-Cavernous Sinus Fistula (1)
- Central Nervous System Cysts (3)
- Central Nervous System Vascular Malformations (53)
- Cerebral Amyloid Angiopathy, Familial (22)
- Charcot-Marie-Tooth Disease (519)
- Chediak-Higashi Syndrome (13)
- Cherubism (2)
- Choanal Atresia (1)
- Choledochal Cyst (8)
- Cholesterol Ester Storage Disease (31)
- Chondrodysplasia Punctata, Rhizomelic (3)
- Chorioamnionitis (34)
- Choroideremia (26)
- Chromosome Disorders (743)
- Ciliary Motility Disorders (55)
- Ciliopathies (268)
- Citrullinemia (11)
- Classical Lissencephalies and Subcortical Band Heterotopias (1)
- Cleft Lip (112)
- Cleft Palate (112)
- Cleidocranial Dysplasia (1)
- Clubfoot (121)
- Cockayne Syndrome (10)
- Coffin-Lowry Syndrome (1)
- Colic (185)
- Coloboma (9)
- Colorectal Neoplasms, Hereditary Nonpolyposis (91)
- Cone-Rod Dystrophies (18)
- Congenital Abnormalities (7,312)
- Congenital Bone Marrow Failure Syndromes (125)
- Congenital Disorders of Glycosylation (15)
- Congenital Hyperinsulinism (48)
- Congenital Hypothyroidism (15)
- Congenital Microtia (16)
- Congenitally Corrected Transposition of the Great Arteries (3)
- Coproporphyria, Hereditary (13)
- Corneal Dystrophies, Hereditary (100)
- Coronary Vessel Anomalies (25)
- Costello Syndrome (4)
- Craniofacial Abnormalities (384)
- Craniofacial Dysostosis (24)
- Craniosynostoses (38)
- Cri-du-Chat Syndrome (1)
- Crigler-Najjar Syndrome (12)
- Cryopyrin-Associated Periodic Syndromes (31)
- Cryptorchidism (28)
- Cutis Laxa (99)
- Cystic Adenomatoid Malformation of Lung, Congenital (4)
- Cystic Fibrosis (1,381)
- Cystinosis (33)
- Cystinuria (23)
- Darier Disease (9)
- De Lange Syndrome (4)
- Deaf-Blind Disorders (34)
- Dent Disease (10)
- Dental Enamel Hypoplasia (50)
- Dentinogenesis Imperfecta (2)
- Dentofacial Deformities (24)
- Denys-Drash Syndrome (2)
- Dermatitis, Atopic (1,077)
- Developmental Dysplasia of the Hip (130)
- Dextrocardia (35)
- DiGeorge Syndrome (47)
- Diaphragmatic Eventration (3)
- Diastema (4)
- Digestive System Abnormalities (160)
- Disorder of Sex Development, 46,XY (24)
- Disorders of Sex Development (281)
- Distal Myopathies (16)
- Double Outlet Right Ventricle (5)
- Down Syndrome (295)
- Duane Retraction Syndrome (1)
- Ductus Arteriosus, Patent (132)
- Dwarfism (311)
- Dysautonomia, Familial (12)
- Dyskeratosis Congenita (16)
- Dysplastic Nevus Syndrome (18)
- Dystonia Musculorum Deformans (1)
- Ebstein Anomaly (4)
- Ectodermal Dysplasia (40)
- Ectodermal Dysplasia 1, Anhidrotic (21)
- Ectopia Lentis (4)
- Ehlers-Danlos Syndrome (55)
- Eisenmenger Complex (23)
- Elliptocytosis, Hereditary (1)
- Ellis-Van Creveld Syndrome (1)
- Encephalocele (1)
- Endocardial Cushion Defects (9)
- Epidermolysis Bullosa (115)
- Epidermolysis Bullosa Acquisita (2)
- Epidermolysis Bullosa Dystrophica (59)
- Epidermolysis Bullosa Simplex (17)
- Epidermolysis Bullosa, Junctional (12)
- Epilepsy, Benign Neonatal (1)
- Epispadias (8)
- Equinus Deformity (121)
- Erythroblastosis, Fetal (24)
- Esophageal Atresia (31)
- Exostoses, Multiple Hereditary (13)
- Eye Abnormalities (84)
- Eye Diseases, Hereditary (767)
- Fabry Disease (193)
- 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 (158)
- Familial Multiple Lipomatosis (1)
- Fanconi Anemia (96)
- Fanconi Syndrome (105)
- Farber Lipogranulomatosis (2)
- Favism (1)
- Fetal Alcohol Spectrum Disorders (52)
- Fetal Diseases (347)
- Fetal Growth Retardation (232)
- Fetal Hypoxia (18)
- Fetal Macrosomia (22)
- Fetofetal Transfusion (23)
- Fetomaternal Transfusion (4)
- Flatfoot (76)
- Focal Dermal Hypoplasia (5)
- Foot Deformities, Congenital (298)
- Foramen Ovale, Patent (107)
- Fragile X Syndrome (89)
- Fraser Syndrome (1)
- Frasier Syndrome (2)
- Friedreich Ataxia (80)
- Fructose Intolerance (11)
- Fructose Metabolism, Inborn Errors (11)
- Fuchs' Endothelial Dystrophy (69)
- Fucosidosis (9)
- Funnel Chest (54)
- Fused Kidney (1)
- GATA2 Deficiency (9)
- Galactosemias (11)
- Gangliosidoses (37)
- Gangliosidoses, GM2 (24)
- Gangliosidosis, GM1 (18)
- Gardner Syndrome (1)
- Gastroschisis (40)
- Gaucher Disease (136)
- Genetic Diseases, Inborn (12,367)
- Genetic Diseases, X-Linked (1,254)
- Giant Axonal Neuropathy (2)
- Gilbert Disease (2)
- Gitelman Syndrome (5)
- Glucosephosphate Dehydrogenase Deficiency (46)
- Glycogen Storage Disease (185)
- Glycogen Storage Disease Type I (14)
- Glycogen Storage Disease Type II (141)
- Glycogen Storage Disease Type III (9)
- Glycogen Storage Disease Type IIb (3)
- 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 (100)
- Gout (296)
- Granulomatous Disease, Chronic (71)
- Graves Ophthalmopathy (110)
- Gray Platelet Syndrome (2)
- Gyrate Atrophy (5)
- Hamartoma Syndrome, Multiple (19)
- Hand Deformities, Congenital (4)
- Heart Defects, Congenital (1,640)
- Heart Septal Defects (189)
- Heart Septal Defects, Atrial (136)
- Heart Septal Defects, Ventricular (54)
- Hemangioma, Cavernous, Central Nervous System (14)
- Hemimegalencephaly (2)
- Hemochromatosis (79)
- Hemoglobin C Disease (7)
- Hemoglobin SC Disease (32)
- Hemoglobinopathies (1,190)
- Hemophilia A (727)
- Hemophilia B (222)
- Hepatolenticular Degeneration (48)
- Hereditary Autoinflammatory Diseases (158)
- Hereditary Breast and Ovarian Cancer Syndrome (59)
- Hereditary Central Nervous System Demyelinating Diseases (97)
- Hereditary Complement Deficiency Diseases (128)
- Hereditary Sensory and Autonomic Neuropathies (15)
- Hereditary Sensory and Motor Neuropathy (519)
- Heredodegenerative Disorders, Nervous System (1,546)
- Hermanski-Pudlak Syndrome (10)
- Hernia, Umbilical (52)
- Hernias, Diaphragmatic, Congenital (76)
- Heterotaxy Syndrome (6)
- Hip Dislocation, Congenital (130)
- Hirschsprung Disease (50)
- Holoprosencephaly (5)
- Homocystinuria (12)
- Huntington Disease (226)
- Hyaline Membrane Disease (51)
- Hyalinosis, Systemic (1)
- Hydranencephaly (1)
- Hydrophthalmos (24)
- Hydrops Fetalis (9)
- Hyper-IgM Immunodeficiency Syndrome (18)
- Hyper-IgM Immunodeficiency Syndrome, Type 1 (13)
- Hyperandrogenism (83)
- Hyperargininemia (8)
- Hyperbilirubinemia, Neonatal (101)
- Hyperglycinemia, Nonketotic (1)
- Hyperhomocysteinemia (45)
- Hyperkeratosis, Epidermolytic (3)
- Hyperlipidemia, Familial Combined (42)
- Hyperlipoproteinemia Type I (25)
- Hyperlipoproteinemia Type II (202)
- 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 (61)
- Hypoprothrombinemias (1)
- Hypospadias (87)
- Ichthyosiform Erythroderma, Congenital (36)
- Ichthyosis (60)
- Ichthyosis Vulgaris (5)
- Ichthyosis, Lamellar (24)
- Ichthyosis, X-Linked (71)
- Incontinentia Pigmenti (1)
- Infant, Newborn, Diseases (3,843)
- Infant, Premature, Diseases (1,543)
- Intestinal Atresia (10)
- Intracranial Arteriovenous Malformations (33)
- Isolated Noncompaction of the Ventricular Myocardium (1)
- Jacobsen Distal 11q Deletion Syndrome (1)
- Jaundice, Neonatal (67)
- Jaw Abnormalities (177)
- Jervell-Lange Nielsen Syndrome (2)
- Job Syndrome (13)
- Kallmann Syndrome (22)
- Kartagener Syndrome (17)
- Keratoderma, Palmoplantar (4)
- Keratoderma, Palmoplantar, Diffuse (1)
- Kernicterus (8)
- Klinefelter Syndrome (35)
- Klippel-Feil Syndrome (4)
- LEOPARD Syndrome (2)
- Lactose Intolerance (41)
- Lafora Disease (2)
- Laminopathies (225)
- Laron Syndrome (2)
- Laryngomalacia (11)
- Laryngostenosis (7)
- Laurence-Moon Syndrome (14)
- Lecithin Cholesterol Acyltransferase Deficiency (4)
- Leigh Disease (16)
- Lennox Gastaut Syndrome (53)
- Lesch-Nyhan Syndrome (5)
- Leukocyte-Adhesion Deficiency Syndrome (7)
- Leukodystrophy, Globoid Cell (26)
- Leukodystrophy, Metachromatic (42)
- Leukomalacia, Periventricular (34)
- Li-Fraumeni Syndrome (17)
- Liddle Syndrome (1)
- Limb Deformities, Congenital (209)
- Lipid Metabolism, Inborn Errors (833)
- Lipidoses (504)
- Lipodystrophy, Congenital Generalized (11)
- Lipodystrophy, Familial Partial (13)
- Lissencephaly (4)
- Loeys-Dietz Syndrome (7)
- Long QT Syndrome (92)
- Lower Extremity Deformities, Congenital (142)
- Lymphangiectasis, Intestinal (1)
- Lymphatic Abnormalities (67)
- Lysosomal Storage Diseases (820)
- MELAS Syndrome (19)
- Machado-Joseph Disease (33)
- Malformations of Cortical Development (111)
- Malformations of Cortical Development, Group II (5)
- Mandibulofacial Dysostosis (11)
- Mannosidase Deficiency Diseases (26)
- Maple Syrup Urine Disease (5)
- Marfan Syndrome (48)
- Maxillofacial Abnormalities (205)
- May-Thurner Syndrome (16)
- Meconium Aspiration Syndrome (20)
- Median Arcuate Ligament Syndrome (1)
- Megalencephaly (5)
- Meningocele (5)
- Meningomyelocele (48)
- Menkes Kinky Hair Syndrome (6)
- Mental Retardation, X-Linked (279)
- Metabolism, Inborn Errors (2,446)
- Metal Metabolism, Inborn Errors (223)
- Mevalonate Kinase Deficiency (4)
- Microcephaly (24)
- Micrognathism (29)
- Microphthalmos (8)
- Microstomia (4)
- Mineralocorticoid Excess Syndrome, Apparent (3)
- Mobius Syndrome (4)
- Mouth Abnormalities (187)
- Mucolipidoses (12)
- Mucopolysaccharidoses (202)
- Mucopolysaccharidosis I (63)
- Mucopolysaccharidosis II (68)
- Mucopolysaccharidosis III (42)
- Mucopolysaccharidosis IV (221)
- Mucopolysaccharidosis VI (31)
- Mucopolysaccharidosis VII (14)
- Muir-Torre Syndrome (5)
- Multicystic Dysplastic Kidney (9)
- Multiple Acyl Coenzyme A Dehydrogenase Deficiency (5)
- 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 (596)
- Muscular Dystrophies, Limb-Girdle (47)
- Muscular Dystrophy, Duchenne (349)
- Muscular Dystrophy, Emery-Dreifuss (3)
- Muscular Dystrophy, Facioscapulohumeral (51)
- Muscular Dystrophy, Oculopharyngeal (12)
- Musculoskeletal Abnormalities (900)
- Myasthenic Syndromes, Congenital (12)
- Myocardial Bridging (7)
- Myotonia Congenita (7)
- Myotonic Dystrophy (74)
- Nail-Patella Syndrome (1)
- Neonatal Abstinence Syndrome (68)
- Neonatal Brachial Plexus Palsy (12)
- Neonatal Sepsis (144)
- Neoplastic Syndromes, Hereditary (727)
- Nephritis, Hereditary (22)
- Nervous System Malformations (475)
- Nesidioblastosis (48)
- Netherton Syndrome (12)
- Neural Tube Defects (158)
- Neuroacanthocytosis (1)
- Neurocutaneous Syndromes (371)
- Neurofibromatoses (282)
- Neurofibromatosis 1 (239)
- Neurofibromatosis 2 (53)
- 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 (27)
- Orofaciodigital Syndromes (2)
- Osteoarthropathy, Primary Hypertrophic (2)
- Osteochondrodysplasias (225)
- Osteogenesis Imperfecta (63)
- POEMS Syndrome (10)
- Pachyonychia Congenita (10)
- Pain Insensitivity, Congenital (4)
- Pallister-Hall Syndrome (1)
- Pantothenate Kinase-Associated Neurodegeneration (11)
- 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 (68)
- Persistent Fetal Circulation Syndrome (35)
- Persistent Hyperplastic Primary Vitreous (1)
- Peutz-Jeghers Syndrome (17)
- Phenylketonuria, Maternal (3)
- Phenylketonurias (137)
- Piebaldism (4)
- Pierre Robin Syndrome (9)
- Plagiocephaly (18)
- Plagiocephaly, Nonsynostotic (12)
- Platybasia (1)
- Polycystic Kidney Diseases (163)
- Polycystic Kidney, Autosomal Dominant (138)
- Polycystic Kidney, Autosomal Recessive (5)
- Polydactyly (6)
- Polymicrogyria (4)
- Porencephaly (3)
- Porokeratosis (2)
- Porphyria Cutanea Tarda (47)
- Porphyria, Acute Intermittent (20)
- Porphyria, Erythropoietic (56)
- Porphyria, Variegate (7)
- Porphyrias, Hepatic (48)
- Port-Wine Stain (84)
- Prader-Willi Syndrome (114)
- Primary Immunodeficiency Diseases (458)
- Progeria (9)
- Prognathism (38)
- Prolidase Deficiency (1)
- Propionic Acidemia (19)
- Protein C Deficiency (5)
- Proteus Syndrome (7)
- Protoporphyria, Erythropoietic (20)
- Pseudohypoaldosteronism (6)
- Pseudohypoparathyroidism (17)
- Pseudopseudohypoparathyroidism (17)
- Pseudoxanthoma Elasticum (22)
- Pulmonary Atresia (9)
- Purine-Pyrimidine Metabolism, Inborn Errors (181)
- 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 (173)
- Respiratory Distress Syndrome, Newborn (1,439)
- Respiratory System Abnormalities (39)
- Retinitis Pigmentosa (237)
- Retinopathy of Prematurity (141)
- Retrognathia (21)
- Rett Syndrome (68)
- 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 (81)
- Sex Chromosome Disorders (201)
- Sialic Acid Storage Disease (1)
- Sickle Cell Trait (46)
- Silver-Russell Syndrome (4)
- Single Umbilical Artery (1)
- Situs Inversus (41)
- Sjogren-Larsson Syndrome (4)
- Skin Abnormalities (401)
- Skin Diseases, Genetic (1,654)
- Smith-Lemli-Opitz Syndrome (15)
- Smith-Magenis Syndrome (15)
- Sotos Syndrome (2)
- Spastic Paraplegia, Hereditary (25)
- Spherocytosis, Hereditary (5)
- Sphingolipidoses (425)
- Spina Bifida Cystica (48)
- Spina Bifida Occulta (3)
- Spinal Dysraphism (162)
- Spinal Muscular Atrophies of Childhood (23)
- Spinocerebellar Ataxias (198)
- Spinocerebellar Degenerations (198)
- Stargardt Disease (41)
- Steroid Metabolism, Inborn Errors (93)
- Stomatognathic System Abnormalities (403)
- Sulfatidosis (34)
- Syndactyly (8)
- Synostosis (44)
- Syphilis, Congenital (5)
- Talipes (121)
- Talipes Cavus (7)
- Tangier Disease (5)
- Tarsal Coalition (2)
- Tay-Sachs Disease (26)
- Tay-Sachs Disease, AB Variant (3)
- Telangiectasia, Hereditary Hemorrhagic (80)
- Tetralogy of Fallot (75)
- Thalassemia (415)
- Thrombasthenia (69)
- Thrombocytopenia, Neonatal Alloimmune (12)
- Thyroid Dysgenesis (2)
- Tooth Abnormalities (116)
- Tooth, Supernumerary (2)
- Tourette Syndrome (202)
- Toxoplasmosis, Congenital (6)
- Tracheobronchomalacia (15)
- Tracheobronchomegaly (1)
- Tracheomalacia (5)
- Transient Tachypnea of the Newborn (33)
- Transposition of Great Vessels (47)
- Trichothiodystrophy Syndromes (2)
- Tricuspid Atresia (10)
- Trisomy 13 Syndrome (22)
- Trisomy 18 Syndrome (24)
- Truncus Arteriosus, Persistent (5)
- Tuberous Sclerosis (92)
- Turner Syndrome (100)
- Twins, Conjoined (1)
- Tyrosinemias (14)
- Univentricular Heart (106)
- Unverricht-Lundborg Syndrome (5)
- Upper Extremity Deformities, Congenital (10)
- Urea Cycle Disorders, Inborn (70)
- Urogenital Abnormalities (436)
- Usher Syndromes (28)
- Vascular Malformations (445)
- Vascular Ring (2)
- Vein of Galen Malformations (2)
- Velopharyngeal Insufficiency (13)
- Vitelliform Macular Dystrophy (7)
- Von Hippel-Lindau Disease (42)
- Von Willebrand Disease, Type 1 (4)
- Von Willebrand Disease, Type 2 (3)
- Von Willebrand Disease, Type 3 (4)
- Von Willebrand Diseases (82)
- WAGR Syndrome (2)
- Waardenburg Syndrome (1)
- Walker-Warburg Syndrome (2)
- Werner Syndrome (2)
- Williams Syndrome (21)
- Wilms Tumor (234)
- Wiskott-Aldrich Syndrome (39)
- Wolf-Hirschhorn Syndrome (1)
- Wolff-Parkinson-White Syndrome (6)
- Wolfram Syndrome (9)
- Wolman Disease (32)
- X-Linked Combined Immunodeficiency Diseases (15)
- X-Linked Emery-Dreifuss Muscular Dystrophy (1)
- Xanthomatosis, Cerebrotendinous (11)
- Xeroderma Pigmentosum (14)
- Zellweger Syndrome (6)
- alpha-Mannosidosis (26)
- alpha-Thalassemia (18)
- beta-Mannosidosis (1)
- beta-Thalassemia (255)
- 22q11 Deletion Syndrome (44)
- 46, XX Disorders of Sex Development (58)