Conditions by Category > Diseases and Abnormalities at or Before Birth
- Abetalipoproteinemia (3)
- Abnormalities, Drug-Induced (3)
- Abnormalities, Multiple (892)
- Abnormalities, Radiation-Induced (4)
- Achondroplasia (25)
- Acidosis, Renal Tubular (9)
- Acrocephalosyndactylia (3)
- Acrodermatitis (5)
- Activated Protein C Resistance (1)
- Acute Chest Syndrome (33)
- Adenomatous Polyposis Coli (71)
- Adrenal Hyperplasia, Congenital (127)
- Adrenogenital Syndrome (127)
- Adrenoleukodystrophy (56)
- Afibrinogenemia (15)
- Agenesis of Corpus Callosum (14)
- Aicardi Syndrome (2)
- Alagille Syndrome (18)
- Albinism (35)
- Albinism, Ocular (4)
- Albinism, Oculocutaneous (14)
- Alexander Disease (3)
- Alkaptonuria (9)
- Alpha 1-Antitrypsin Deficiency (123)
- Alstrom Syndrome (6)
- Amelogenesis Imperfecta (6)
- Amino Acid Metabolism, Inborn Errors (294)
- Amniotic Band Syndrome (2)
- Amyloid Neuropathies, Familial (35)
- Amyloidosis, Familial (55)
- Andersen Syndrome (2)
- Androgen-Insensitivity Syndrome (2)
- Anemia, Diamond-Blackfan (56)
- Anemia, Dyserythropoietic, Congenital (6)
- Anemia, Hemolytic, Congenital (1,078)
- Anemia, Hemolytic, Congenital Nonspherocytic (10)
- Anemia, Hypoplastic, Congenital (109)
- Anemia, Neonatal (31)
- Anemia, Sickle Cell (834)
- Anencephaly (8)
- Angelman Syndrome (29)
- Angioedemas, Hereditary (121)
- Aniridia (14)
- Anodontia (45)
- Anophthalmos (7)
- Anorectal Malformations (16)
- Antithrombin III Deficiency (14)
- Aortic Coarctation (32)
- Arachnodactyly (59)
- Arachnoid Cysts (1)
- Argininosuccinic Aciduria (8)
- Arnold-Chiari Malformation (22)
- Arrhythmogenic Right Ventricular Dysplasia (28)
- Arteriovenous Fistula (221)
- Arteriovenous Malformations (250)
- Arthritis, Gouty (29)
- Arthrogryposis (74)
- Aspartylglucosaminuria (5)
- Asphyxia Neonatorum (80)
- Ataxia Telangiectasia (36)
- Autoimmune Lymphoproliferative Syndrome (12)
- Bardet-Biedl Syndrome (11)
- Barth Syndrome (6)
- Basal Cell Nevus Syndrome (36)
- Beckwith-Wiedemann Syndrome (8)
- Behcet Syndrome (86)
- Biliary Atresia (41)
- Biotinidase Deficiency (4)
- Birt-Hogg-Dube Syndrome (6)
- Birth Injuries (28)
- Bladder Exstrophy (12)
- Blood Coagulation Disorders, Inherited (840)
- Bloom Syndrome (1)
- Brachydactyly (2)
- Brain Diseases, Metabolic, Inborn (879)
- Bronchomalacia (2)
- Bronchopulmonary Dysplasia (253)
- Brugada Syndrome (38)
- Bulbo-Spinal Atrophy, X-Linked (13)
- CADASIL (19)
- CHARGE Syndrome (1)
- Canavan Disease (8)
- Carbamoyl-Phosphate Synthase I Deficiency Disease (8)
- Carbohydrate Metabolism, Inborn Errors (519)
- Cardiomyopathy, Hypertrophic, Familial (6)
- Cardiovascular Abnormalities (1,758)
- Carney Complex (4)
- Caroli Disease (3)
- Carotid-Cavernous Sinus Fistula (1)
- Central Nervous System Cysts (3)
- Central Nervous System Vascular Malformations (47)
- Cerebral Amyloid Angiopathy, Familial (17)
- Charcot-Marie-Tooth Disease (419)
- Cherubism (2)
- Choanal Atresia (1)
- Choledochal Cyst (6)
- Cholesterol Ester Storage Disease (29)
- Chondrodysplasia Punctata, Rhizomelic (3)
- Chorioamnionitis (33)
- Choroideremia (23)
- Chromosome Disorders (650)
- Ciliary Motility Disorders (51)
- Ciliopathies (244)
- Citrullinemia (11)
- Cleft Lip (97)
- Cleft Palate (96)
- Clubfoot (96)
- Cockayne Syndrome (7)
- Coffin-Lowry Syndrome (1)
- Colic (169)
- Coloboma (9)
- Colorectal Neoplasms, Hereditary Nonpolyposis (83)
- Cone-Rod Dystrophies (17)
- Congenital Abnormalities (6,413)
- Congenital Disorders of Glycosylation (9)
- Congenital Hyperinsulinism (47)
- Congenital Hypothyroidism (13)
- Congenital Microtia (13)
- Coproporphyria, Hereditary (11)
- Corneal Dystrophies, Hereditary (91)
- Coronary Vessel Anomalies (23)
- Costello Syndrome (3)
- Craniofacial Abnormalities (333)
- Craniofacial Dysostosis (22)
- Craniosynostoses (55)
- Cri-du-Chat Syndrome (1)
- Crigler-Najjar Syndrome (12)
- Cryopyrin-Associated Periodic Syndromes (29)
- Cryptorchidism (27)
- Cutis Laxa (87)
- Cystic Adenomatoid Malformation of Lung, Congenital (4)
- Cystic Fibrosis (1,295)
- Cystinosis (29)
- Cystinuria (20)
- Darier Disease (8)
- De Lange Syndrome (4)
- Dent Disease (10)
- Dental Enamel Hypoplasia (40)
- Dentinogenesis Imperfecta (2)
- Dentofacial Deformities (20)
- Denys-Drash Syndrome (2)
- Dermatitis, Atopic (940)
- Dextrocardia (32)
- DiGeorge Syndrome (41)
- Diaphragmatic Eventration (3)
- Diastema (4)
- Digestive System Abnormalities (137)
- Disorder of Sex Development, 46,XY (24)
- Disorders of Sex Development (259)
- Distal Myopathies (17)
- Double Outlet Right Ventricle (5)
- Down Syndrome (251)
- Duane Retraction Syndrome (1)
- Ductus Arteriosus, Patent (123)
- Dwarfism (288)
- Dysautonomia, Familial (12)
- Dyskeratosis Congenita (17)
- Dysplastic Nevus Syndrome (17)
- Ebstein Anomaly (3)
- Ectodermal Dysplasia (35)
- Ectodermal Dysplasia 1, Anhidrotic (19)
- Ectopia Lentis (4)
- Ehlers-Danlos Syndrome (42)
- Eisenmenger Complex (23)
- Elliptocytosis, Hereditary (1)
- Ellis-Van Creveld Syndrome (1)
- Encephalocele (1)
- Endocardial Cushion Defects (13)
- Epidermolysis Bullosa (103)
- Epidermolysis Bullosa Acquisita (2)
- Epidermolysis Bullosa Dystrophica (54)
- Epidermolysis Bullosa Simplex (15)
- Epidermolysis Bullosa, Junctional (9)
- Epilepsy, Benign Neonatal (1)
- Epispadias (8)
- Equinus Deformity (96)
- Erythroblastosis, Fetal (23)
- Esophageal Atresia (28)
- Exostoses, Multiple Hereditary (13)
- Eye Abnormalities (65)
- Eye Diseases, Hereditary (679)
- Fabry Disease (178)
- 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 Hypophosphatemic Rickets (54)
- Familial Mediterranean Fever (142)
- Familial Multiple Lipomatosis (1)
- Fanconi Anemia (94)
- Fanconi Syndrome (103)
- Farber Lipogranulomatosis (2)
- Favism (1)
- Fetal Alcohol Spectrum Disorders (46)
- Fetal Diseases (314)
- Fetal Growth Retardation (211)
- Fetal Hypoxia (16)
- Fetal Macrosomia (49)
- Fetofetal Transfusion (19)
- Fetomaternal Transfusion (4)
- Flatfoot (53)
- Focal Dermal Hypoplasia (5)
- Foot Deformities, Congenital (244)
- Foramen Ovale, Patent (96)
- Fragile X Syndrome (81)
- Fraser Syndrome (1)
- Frasier Syndrome (2)
- Friedreich Ataxia (73)
- Fructose Intolerance (9)
- Fructose Metabolism, Inborn Errors (9)
- Fuchs' Endothelial Dystrophy (62)
- Fucosidosis (9)
- Funnel Chest (48)
- GATA2 Deficiency (8)
- Galactosemias (10)
- Gangliosidoses (35)
- Gangliosidoses, GM2 (24)
- Gangliosidosis, GM1 (17)
- Gardner Syndrome (1)
- Gastroschisis (38)
- Gaucher Disease (127)
- Genetic Diseases, Inborn (10,754)
- Genetic Diseases, X-Linked (1,142)
- Giant Axonal Neuropathy (2)
- Gilbert Disease (2)
- Gitelman Syndrome (4)
- Glucosephosphate Dehydrogenase Deficiency (43)
- Glycogen Storage Disease (166)
- Glycogen Storage Disease Type I (12)
- Glycogen Storage Disease Type II (122)
- Glycogen Storage Disease Type III (7)
- Glycogen Storage Disease Type IIb (2)
- Glycogen Storage Disease Type IV (4)
- Glycogen Storage Disease Type V (16)
- Glycogen Storage Disease Type VI (2)
- Glycogen Storage Disease Type VII (4)
- Glycogen Storage Disease Type VIII (1)
- Glycosuria, Renal (3)
- Goldenhar Syndrome (9)
- Gonadal Dysgenesis (91)
- Gout (267)
- Granulomatous Disease, Chronic (66)
- Graves Ophthalmopathy (92)
- Gray Platelet Syndrome (2)
- Gyrate Atrophy (4)
- Hamartoma Syndrome, Multiple (18)
- Hand Deformities, Congenital (3)
- Heart Defects, Congenital (1,424)
- Heart Septal Defects (172)
- Heart Septal Defects, Atrial (123)
- Heart Septal Defects, Ventricular (47)
- Hemangioma, Cavernous, Central Nervous System (11)
- Hemimegalencephaly (2)
- Hemochromatosis (50)
- Hemoglobin C Disease (7)
- Hemoglobin SC Disease (32)
- Hemoglobinopathies (1,079)
- Hemophilia A (676)
- Hemophilia B (207)
- Hepatolenticular Degeneration (40)
- Hereditary Autoinflammatory Diseases (142)
- Hereditary Breast and Ovarian Cancer Syndrome (45)
- Hereditary Central Nervous System Demyelinating Diseases (89)
- Hereditary Sensory and Autonomic Neuropathies (15)
- Hereditary Sensory and Motor Neuropathy (419)
- Heredodegenerative Disorders, Nervous System (1,367)
- Hermanski-Pudlak Syndrome (9)
- Hernia, Umbilical (50)
- Hernias, Diaphragmatic, Congenital (69)
- Heterotaxy Syndrome (6)
- Hip Dislocation, Congenital (114)
- Hirschsprung Disease (43)
- Holoprosencephaly (5)
- Homocystinuria (10)
- Huntington Disease (204)
- Hyaline Membrane Disease (49)
- Hyalinosis, Systemic (1)
- Hydranencephaly (1)
- Hydrophthalmos (20)
- Hydrops Fetalis (8)
- Hyper-IgM Immunodeficiency Syndrome (18)
- Hyper-IgM Immunodeficiency Syndrome, Type 1 (13)
- Hyperandrogenism (79)
- Hyperargininemia (7)
- Hyperbilirubinemia, Neonatal (84)
- Hyperhomocysteinemia (43)
- Hyperkeratosis, Epidermolytic (2)
- Hyperlipidemia, Familial Combined (38)
- Hyperlipoproteinemia Type I (22)
- Hyperlipoproteinemia Type II (184)
- Hyperlipoproteinemia Type III (6)
- Hyperlipoproteinemia Type IV (7)
- Hyperlipoproteinemia Type V (10)
- Hyperoxaluria, Primary (37)
- Hypertelorism (12)
- Hypoalphalipoproteinemias (15)
- Hypobetalipoproteinemias (12)
- Hypokalemic Periodic Paralysis (3)
- Hypolipoproteinemias (25)
- Hypophosphatasia (30)
- Hypophosphatemia, Familial (51)
- Hypoplastic Left Heart Syndrome (60)
- Hypoprothrombinemias (1)
- Hypospadias (76)
- Ichthyosiform Erythroderma, Congenital (30)
- Ichthyosis (50)
- Ichthyosis Vulgaris (5)
- Ichthyosis, Lamellar (21)
- Ichthyosis, X-Linked (65)
- Incontinentia Pigmenti (1)
- Infant, Newborn, Diseases (3,487)
- Infant, Premature, Diseases (1,368)
- Intestinal Atresia (8)
- Intracranial Arteriovenous Malformations (32)
- Isolated Noncompaction of the Ventricular Myocardium (1)
- Jacobsen Distal 11q Deletion Syndrome (1)
- Jaundice, Neonatal (55)
- Jaw Abnormalities (153)
- Jervell-Lange Nielsen Syndrome (2)
- Kallmann Syndrome (22)
- Kartagener Syndrome (15)
- Keratoderma, Palmoplantar (3)
- Keratoderma, Palmoplantar, Diffuse (1)
- Kernicterus (8)
- Klinefelter Syndrome (31)
- Klippel-Feil Syndrome (4)
- LEOPARD Syndrome (2)
- Lactose Intolerance (37)
- Lafora Disease (2)
- Laron Syndrome (2)
- Laryngomalacia (10)
- Laryngostenosis (5)
- Laurence-Moon Syndrome (11)
- Lecithin Cholesterol Acyltransferase Deficiency (4)
- Leigh Disease (14)
- Lennox Gastaut Syndrome (44)
- Lesch-Nyhan Syndrome (4)
- Leukodystrophy, Globoid Cell (26)
- Leukodystrophy, Metachromatic (40)
- Leukomalacia, Periventricular (33)
- Li-Fraumeni Syndrome (15)
- Liddle Syndrome (1)
- Limb Deformities, Congenital (189)
- Lipid Metabolism, Inborn Errors (769)
- Lipidoses (469)
- Lipodystrophy, Congenital Generalized (11)
- Loeys-Dietz Syndrome (5)
- Long QT Syndrome (89)
- Lower Extremity Deformities, Congenital (111)
- Lymphangiectasis, Intestinal (1)
- Lymphatic Abnormalities (61)
- Lysosomal Storage Diseases (764)
- MELAS Syndrome (17)
- Machado-Joseph Disease (28)
- Malformations of Cortical Development (91)
- Malformations of Cortical Development, Group II (4)
- Mandibulofacial Dysostosis (11)
- Mannosidase Deficiency Diseases (27)
- Maple Syrup Urine Disease (5)
- Marfan Syndrome (60)
- Maxillofacial Abnormalities (177)
- May-Thurner Syndrome (14)
- Meconium Aspiration Syndrome (19)
- Megalencephaly (4)
- Meningocele (2)
- Meningomyelocele (46)
- Menkes Kinky Hair Syndrome (5)
- Mental Retardation, X-Linked (247)
- Metabolism, Inborn Errors (2,308)
- Metal Metabolism, Inborn Errors (191)
- Mevalonate Kinase Deficiency (4)
- Microcephaly (21)
- Micrognathism (26)
- Microphthalmos (8)
- Microstomia (4)
- Mineralocorticoid Excess Syndrome, Apparent (3)
- Mobius Syndrome (4)
- Mouth Abnormalities (163)
- Mucolipidoses (12)
- Mucopolysaccharidoses (187)
- Mucopolysaccharidosis I (62)
- Mucopolysaccharidosis II (61)
- Mucopolysaccharidosis III (39)
- Mucopolysaccharidosis IV (197)
- Mucopolysaccharidosis VI (29)
- Mucopolysaccharidosis VII (13)
- Muir-Torre Syndrome (3)
- Multicystic Dysplastic Kidney (9)
- Multiple Acyl Coenzyme A Dehydrogenase Deficiency (4)
- Multiple Endocrine Neoplasia (34)
- Multiple Endocrine Neoplasia Type 1 (16)
- Multiple Endocrine Neoplasia Type 2a (9)
- Multiple Endocrine Neoplasia Type 2b (5)
- Multiple Sulfatase Deficiency Disease (1)
- Muscular Dystrophies (524)
- Muscular Dystrophies, Limb-Girdle (39)
- Muscular Dystrophy, Duchenne (315)
- Muscular Dystrophy, Emery-Dreifuss (1)
- Muscular Dystrophy, Facioscapulohumeral (42)
- Muscular Dystrophy, Oculopharyngeal (12)
- Musculoskeletal Abnormalities (776)
- Myasthenic Syndromes, Congenital (11)
- Myocardial Bridging (6)
- Myotonia Congenita (7)
- Myotonic Dystrophy (62)
- Nail-Patella Syndrome (1)
- Neonatal Abstinence Syndrome (65)
- Neonatal Brachial Plexus Palsy (11)
- Neonatal Sepsis (130)
- Neoplastic Syndromes, Hereditary (654)
- Nephritis, Hereditary (17)
- Nervous System Malformations (413)
- Nesidioblastosis (1)
- Netherton Syndrome (8)
- Neural Tube Defects (142)
- Neuroacanthocytosis (1)
- Neurofibromatoses (256)
- Neurofibromatosis 1 (215)
- Neurofibromatosis 2 (50)
- Neuronal Ceroid-Lipofuscinoses (38)
- 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)
- Ornithine Carbamoyltransferase Deficiency Disease (24)
- Orofaciodigital Syndromes (2)
- Osteoarthropathy, Primary Hypertrophic (2)
- Osteochondrodysplasias (199)
- 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 (6)
- Pemphigus, Benign Familial (3)
- Pentalogy of Cantrell (3)
- Periventricular Nodular Heterotopia (1)
- Peroxisomal Disorders (62)
- Persistent Fetal Circulation Syndrome (35)
- Persistent Hyperplastic Primary Vitreous (1)
- Peutz-Jeghers Syndrome (17)
- Phenylketonuria, Maternal (3)
- Phenylketonurias (123)
- Piebaldism (4)
- Pierre Robin Syndrome (9)
- Plagiocephaly (16)
- Plagiocephaly, Nonsynostotic (10)
- 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 (42)
- Porphyria, Acute Intermittent (19)
- Porphyria, Erythropoietic (50)
- Porphyria, Variegate (7)
- Porphyrias, Hepatic (42)
- Port-Wine Stain (79)
- Prader-Willi Syndrome (102)
- Progeria (9)
- Prognathism (30)
- Prolidase Deficiency (1)
- Propionic Acidemia (13)
- Protein C Deficiency (4)
- Proteus Syndrome (6)
- Protoporphyria, Erythropoietic (17)
- Pseudohypoaldosteronism (5)
- Pseudohypoparathyroidism (17)
- Pseudopseudohypoparathyroidism (17)
- Pseudoxanthoma Elasticum (18)
- Pulmonary Atresia (8)
- Purine-Pyrimidine Metabolism, Inborn Errors (161)
- Pyelectasis (1)
- Pyruvate Carboxylase Deficiency Disease (1)
- Pyruvate Dehydrogenase Complex Deficiency Disease (4)
- Pyruvate Metabolism, Inborn Errors (26)
- Refsum Disease (8)
- Refsum Disease, Infantile (4)
- Renal Tubular Transport, Inborn Errors (167)
- Respiratory Distress Syndrome, Newborn (1,352)
- Respiratory System Abnormalities (34)
- Retinitis Pigmentosa (216)
- Retinopathy of Prematurity (124)
- Retrognathia (15)
- Rett Syndrome (61)
- 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 (78)
- Sex Chromosome Disorders (184)
- Sialic Acid Storage Disease (1)
- Sickle Cell Trait (39)
- Silver-Russell Syndrome (3)
- Situs Inversus (34)
- Sjogren-Larsson Syndrome (3)
- Skin Abnormalities (352)
- Skin Diseases, Genetic (1,448)
- Smith-Lemli-Opitz Syndrome (14)
- Smith-Magenis Syndrome (13)
- Spastic Paraplegia, Hereditary (19)
- Spherocytosis, Hereditary (5)
- Sphingolipidoses (397)
- Spina Bifida Cystica (46)
- Spina Bifida Occulta (2)
- Spinal Dysraphism (146)
- Spinal Muscular Atrophies of Childhood (20)
- Spinocerebellar Ataxias (176)
- Spinocerebellar Degenerations (176)
- Steroid Metabolism, Inborn Errors (85)
- Stomatognathic System Abnormalities (342)
- Sulfatidosis (33)
- Syndactyly (8)
- Synostosis (61)
- Syphilis, Congenital (4)
- Talipes (96)
- Talipes Cavus (3)
- Tangier Disease (5)
- Tarsal Coalition (2)
- Tay-Sachs Disease (26)
- Tay-Sachs Disease, AB Variant (3)
- Telangiectasia, Hereditary Hemorrhagic (73)
- Tetralogy of Fallot (64)
- Thalassemia (385)
- Thrombasthenia (13)
- Thrombocytopenia, Neonatal Alloimmune (11)
- Thyroid Dysgenesis (2)
- Tooth Abnormalities (95)
- Tooth, Supernumerary (2)
- Tourette Syndrome (183)
- Toxoplasmosis, Congenital (6)
- Tracheobronchomalacia (13)
- Tracheobronchomegaly (1)
- Tracheomalacia (5)
- Transient Tachypnea of the Newborn (30)
- Transposition of Great Vessels (40)
- Trichothiodystrophy Syndromes (1)
- Tricuspid Atresia (10)
- Trisomy 13 Syndrome (21)
- Trisomy 18 Syndrome (23)
- Truncus Arteriosus, Persistent (4)
- Tuberous Sclerosis (71)
- Turner Syndrome (91)
- Twins, Conjoined (1)
- Tyrosinemias (13)
- Unverricht-Lundborg Syndrome (5)
- Upper Extremity Deformities, Congenital (7)
- Urea Cycle Disorders, Inborn (65)
- Urogenital Abnormalities (398)
- Usher Syndromes (23)
- Vascular Malformations (391)
- 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 (2)
- Von Willebrand Disease, Type 3 (3)
- Von Willebrand Diseases (76)
- WAGR Syndrome (2)
- Waardenburg Syndrome (1)
- Walker-Warburg Syndrome (2)
- Werner Syndrome (2)
- Williams Syndrome (19)
- Wilms Tumor (226)
- 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)
- Xanthomatosis, Cerebrotendinous (9)
- Xeroderma Pigmentosum (11)
- Zellweger Syndrome (6)
- alpha-Mannosidosis (27)
- alpha-Thalassemia (17)
- beta-Mannosidosis (1)
- beta-Thalassemia (234)
- 22q11 Deletion Syndrome (40)
- 46, XX Disorders of Sex Development (56)