Conditions by Category > Diseases and Abnormalities at or Before Birth
- Abetalipoproteinemia (3)
- Abnormalities, Drug-Induced (3)
- Abnormalities, Multiple (847)
- Abnormalities, Radiation-Induced (4)
- Achondroplasia (25)
- Acidosis, Renal Tubular (9)
- Acrocephalosyndactylia (2)
- Acrodermatitis (6)
- Activated Protein C Resistance (1)
- Acute Chest Syndrome (33)
- Adenomatous Polyposis Coli (68)
- Adrenal Hyperplasia, Congenital (120)
- Adrenogenital Syndrome (120)
- Adrenoleukodystrophy (53)
- Afibrinogenemia (15)
- Agenesis of Corpus Callosum (14)
- Aicardi Syndrome (2)
- Alagille Syndrome (16)
- Albinism (35)
- Albinism, Ocular (4)
- Albinism, Oculocutaneous (14)
- Alexander Disease (1)
- Alkaptonuria (8)
- Alpha 1-Antitrypsin Deficiency (94)
- Alstrom Syndrome (6)
- Amelogenesis Imperfecta (4)
- Amino Acid Metabolism, Inborn Errors (282)
- Amniotic Band Syndrome (2)
- Amyloid Neuropathies, Familial (33)
- Amyloidosis, Familial (51)
- Andersen Syndrome (2)
- Androgen-Insensitivity Syndrome (2)
- Anemia, Diamond-Blackfan (55)
- Anemia, Dyserythropoietic, Congenital (4)
- Anemia, Hemolytic, Congenital (1,031)
- Anemia, Hemolytic, Congenital Nonspherocytic (8)
- Anemia, Hypoplastic, Congenital (108)
- Anemia, Neonatal (29)
- Anemia, Sickle Cell (801)
- Anencephaly (8)
- Angelman Syndrome (27)
- Angioedemas, Hereditary (113)
- Aniridia (17)
- Anodontia (40)
- Anophthalmos (6)
- Anorectal Malformations (12)
- Antithrombin III Deficiency (11)
- Aortic Coarctation (32)
- Arachnodactyly (54)
- Arachnoid Cysts (1)
- Argininosuccinic Aciduria (7)
- Arnold-Chiari Malformation (22)
- Arrhythmogenic Right Ventricular Dysplasia (27)
- Arteriovenous Fistula (215)
- Arteriovenous Malformations (237)
- Arthritis, Gouty (27)
- Arthrogryposis (71)
- Aspartylglucosaminuria (5)
- Asphyxia Neonatorum (78)
- Ataxia Telangiectasia (33)
- Autoimmune Lymphoproliferative Syndrome (11)
- Bardet-Biedl Syndrome (9)
- Barth Syndrome (6)
- Basal Cell Nevus Syndrome (36)
- Beckwith-Wiedemann Syndrome (8)
- Behcet Syndrome (82)
- Biliary Atresia (39)
- Biotinidase Deficiency (4)
- Birt-Hogg-Dube Syndrome (6)
- Birth Injuries (26)
- Bladder Exstrophy (11)
- Blood Coagulation Disorders, Inherited (805)
- Bloom Syndrome (1)
- Brachydactyly (2)
- Brain Diseases, Metabolic, Inborn (824)
- Bronchomalacia (2)
- Bronchopulmonary Dysplasia (240)
- Brugada Syndrome (36)
- Bulbo-Spinal Atrophy, X-Linked (11)
- CADASIL (17)
- CHARGE Syndrome (1)
- Canavan Disease (7)
- Carbamoyl-Phosphate Synthase I Deficiency Disease (7)
- Carbohydrate Metabolism, Inborn Errors (496)
- Cardiomyopathy, Hypertrophic, Familial (6)
- Cardiovascular Abnormalities (1,449)
- Carney Complex (4)
- Caroli Disease (3)
- Carotid-Cavernous Sinus Fistula (1)
- Central Nervous System Cysts (3)
- Central Nervous System Vascular Malformations (46)
- Cerebral Amyloid Angiopathy, Familial (15)
- Charcot-Marie-Tooth Disease (392)
- Cherubism (2)
- Choanal Atresia (1)
- Choledochal Cyst (6)
- Cholesterol Ester Storage Disease (28)
- Chondrodysplasia Punctata, Rhizomelic (3)
- Chorioamnionitis (34)
- Choroideremia (21)
- Chromosome Disorders (626)
- Ciliary Motility Disorders (43)
- Ciliopathies (229)
- Citrullinemia (10)
- Cleft Lip (90)
- Cleft Palate (91)
- Clubfoot (88)
- Cockayne Syndrome (7)
- Coffin-Lowry Syndrome (1)
- Colic (163)
- Coloboma (7)
- Colorectal Neoplasms, Hereditary Nonpolyposis (75)
- Cone-Rod Dystrophies (16)
- Congenital Abnormalities (5,837)
- Congenital Disorders of Glycosylation (8)
- Congenital Hyperinsulinism (42)
- Congenital Hypothyroidism (12)
- Congenital Microtia (12)
- Coproporphyria, Hereditary (9)
- Corneal Dystrophies, Hereditary (69)
- Coronary Vessel Anomalies (5)
- Costello Syndrome (2)
- Craniofacial Abnormalities (307)
- Craniofacial Dysostosis (21)
- Craniosynostoses (53)
- Cri-du-Chat Syndrome (1)
- Crigler-Najjar Syndrome (12)
- Cryopyrin-Associated Periodic Syndromes (27)
- Cryptorchidism (24)
- Cutis Laxa (80)
- Cystic Adenomatoid Malformation of Lung, Congenital (4)
- Cystic Fibrosis (1,249)
- Cystinosis (29)
- Cystinuria (19)
- Darier Disease (7)
- De Lange Syndrome (4)
- Dent Disease (10)
- Dental Enamel Hypoplasia (35)
- Dentinogenesis Imperfecta (1)
- Dentofacial Deformities (18)
- Denys-Drash Syndrome (2)
- Dermatitis, Atopic (886)
- Dextrocardia (29)
- DiGeorge Syndrome (41)
- Diaphragmatic Eventration (2)
- Diastema (4)
- Digestive System Abnormalities (125)
- Disorders of Sex Development (246)
- Distal Myopathies (17)
- Double Outlet Right Ventricle (4)
- Down Syndrome (237)
- Duane Retraction Syndrome (1)
- Ductus Arteriosus, Patent (122)
- Dwarfism (279)
- Dysautonomia, Familial (12)
- Dyskeratosis Congenita (16)
- Dysplastic Nevus Syndrome (17)
- Ebstein Anomaly (3)
- Ectodermal Dysplasia (34)
- Ectodermal Dysplasia 1, Anhidrotic (17)
- Ectopia Lentis (4)
- Ehlers-Danlos Syndrome (37)
- Eisenmenger Complex (22)
- Elliptocytosis, Hereditary (1)
- Ellis-Van Creveld Syndrome (1)
- Encephalocele (1)
- Endocardial Cushion Defects (13)
- Epidermolysis Bullosa (97)
- Epidermolysis Bullosa Acquisita (2)
- Epidermolysis Bullosa Dystrophica (50)
- Epidermolysis Bullosa Simplex (14)
- Epidermolysis Bullosa, Junctional (7)
- Epilepsy, Benign Neonatal (1)
- Epispadias (6)
- Equinus Deformity (88)
- Erythroblastosis, Fetal (23)
- Esophageal Atresia (25)
- Exostoses, Multiple Hereditary (12)
- Eye Abnormalities (60)
- Eye Diseases, Hereditary (627)
- Fabry Disease (166)
- 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 (48)
- Familial Mediterranean Fever (134)
- Familial Multiple Lipomatosis (1)
- Fanconi Anemia (91)
- Fanconi Syndrome (100)
- Farber Lipogranulomatosis (2)
- Favism (1)
- Fetal Alcohol Spectrum Disorders (44)
- Fetal Diseases (303)
- Fetal Growth Retardation (203)
- Fetal Hypoxia (15)
- Fetal Macrosomia (44)
- Fetofetal Transfusion (17)
- Fetomaternal Transfusion (4)
- Flatfoot (49)
- Focal Dermal Hypoplasia (5)
- Foot Deformities, Congenital (228)
- Foramen Ovale, Patent (88)
- Fragile X Syndrome (78)
- Fraser Syndrome (1)
- Frasier Syndrome (2)
- Friedreich Ataxia (70)
- Fructose Intolerance (9)
- Fructose Metabolism, Inborn Errors (9)
- Fuchs' Endothelial Dystrophy (60)
- Fucosidosis (9)
- Funnel Chest (47)
- GATA2 Deficiency (7)
- Galactosemias (8)
- Gangliosidoses (34)
- Gangliosidoses, GM2 (23)
- Gangliosidosis, GM1 (17)
- Gardner Syndrome (1)
- Gastroschisis (37)
- Gaucher Disease (123)
- Genetic Diseases, Inborn (10,224)
- Genetic Diseases, X-Linked (1,101)
- Giant Axonal Neuropathy (2)
- Gilbert Disease (2)
- Gitelman Syndrome (4)
- Glucosephosphate Dehydrogenase Deficiency (43)
- Glycogen Storage Disease (155)
- Glycogen Storage Disease Type I (11)
- Glycogen Storage Disease Type II (113)
- Glycogen Storage Disease Type III (7)
- Glycogen Storage Disease Type IIb (2)
- Glycogen Storage Disease Type IV (4)
- Glycogen Storage Disease Type V (15)
- Glycogen Storage Disease Type VI (2)
- Glycogen Storage Disease Type VII (4)
- Glycogen Storage Disease Type VIII (1)
- Glycosuria, Renal (2)
- Goldenhar Syndrome (8)
- Gonadal Dysgenesis (88)
- Gout (241)
- Granulomatous Disease, Chronic (66)
- Graves Ophthalmopathy (85)
- Gray Platelet Syndrome (2)
- Gyrate Atrophy (4)
- Hamartoma Syndrome, Multiple (18)
- Hand Deformities, Congenital (3)
- Heart Defects, Congenital (1,086)
- Heart Septal Defects (162)
- Heart Septal Defects, Atrial (115)
- Heart Septal Defects, Ventricular (46)
- Hemangioma, Cavernous, Central Nervous System (11)
- Hemimegalencephaly (2)
- Hemochromatosis (49)
- Hemoglobin C Disease (7)
- Hemoglobin SC Disease (32)
- Hemoglobinopathies (1,035)
- Hemophilia A (649)
- Hemophilia B (203)
- Hepatolenticular Degeneration (33)
- Hereditary Autoinflammatory Diseases (134)
- Hereditary Breast and Ovarian Cancer Syndrome (46)
- Hereditary Central Nervous System Demyelinating Diseases (84)
- Hereditary Sensory and Autonomic Neuropathies (15)
- Hereditary Sensory and Motor Neuropathy (392)
- Heredodegenerative Disorders, Nervous System (1,301)
- Hermanski-Pudlak Syndrome (9)
- Hernia, Umbilical (47)
- Hernias, Diaphragmatic, Congenital (66)
- Heterotaxy Syndrome (6)
- Hip Dislocation, Congenital (110)
- Hirschsprung Disease (37)
- Holoprosencephaly (5)
- Homocystinuria (9)
- Huntington Disease (200)
- Hyaline Membrane Disease (45)
- Hyalinosis, Systemic (1)
- Hydranencephaly (1)
- Hydrophthalmos (18)
- Hydrops Fetalis (8)
- Hyper-IgM Immunodeficiency Syndrome (18)
- Hyper-IgM Immunodeficiency Syndrome, Type 1 (13)
- Hyperandrogenism (74)
- Hyperargininemia (6)
- Hyperbilirubinemia, Neonatal (83)
- Hyperhomocysteinemia (42)
- Hyperkeratosis, Epidermolytic (2)
- Hyperlipidemia, Familial Combined (37)
- Hyperlipoproteinemia Type I (22)
- Hyperlipoproteinemia Type II (173)
- Hyperlipoproteinemia Type III (6)
- Hyperlipoproteinemia Type IV (7)
- Hyperlipoproteinemia Type V (9)
- Hyperoxaluria, Primary (37)
- Hypertelorism (12)
- Hypoalphalipoproteinemias (14)
- Hypobetalipoproteinemias (12)
- Hypokalemic Periodic Paralysis (3)
- Hypolipoproteinemias (24)
- Hypophosphatasia (29)
- Hypophosphatemia, Familial (45)
- Hypoplastic Left Heart Syndrome (58)
- Hypoprothrombinemias (1)
- Hypospadias (69)
- Ichthyosiform Erythroderma, Congenital (30)
- Ichthyosis (48)
- Ichthyosis Vulgaris (4)
- Ichthyosis, Lamellar (21)
- Ichthyosis, X-Linked (62)
- Incontinentia Pigmenti (1)
- Infant, Newborn, Diseases (3,303)
- Infant, Premature, Diseases (1,269)
- Intestinal Atresia (7)
- Intracranial Arteriovenous Malformations (31)
- Isolated Noncompaction of the Ventricular Myocardium (1)
- Jacobsen Distal 11q Deletion Syndrome (1)
- Jaundice, Neonatal (54)
- Jaw Abnormalities (133)
- Jervell-Lange Nielsen Syndrome (2)
- Kallmann Syndrome (21)
- Kartagener Syndrome (13)
- Keratoderma, Palmoplantar (3)
- Keratoderma, Palmoplantar, Diffuse (1)
- Kernicterus (8)
- Klinefelter Syndrome (30)
- Klippel-Feil Syndrome (4)
- LEOPARD Syndrome (2)
- Lactose Intolerance (36)
- Lafora Disease (2)
- Laron Syndrome (2)
- Laryngomalacia (10)
- Laryngostenosis (4)
- Laurence-Moon Syndrome (9)
- Lecithin Cholesterol Acyltransferase Deficiency (3)
- Leigh Disease (13)
- Lennox Gastaut Syndrome (43)
- Lesch-Nyhan Syndrome (4)
- Leukodystrophy, Globoid Cell (24)
- Leukodystrophy, Metachromatic (38)
- Leukomalacia, Periventricular (32)
- Li-Fraumeni Syndrome (14)
- Liddle Syndrome (1)
- Limb Deformities, Congenital (176)
- Lipid Metabolism, Inborn Errors (729)
- Lipidoses (442)
- Lipodystrophy, Congenital Generalized (11)
- Loeys-Dietz Syndrome (5)
- Long QT Syndrome (88)
- Lower Extremity Deformities, Congenital (103)
- Lymphangiectasis, Intestinal (1)
- Lymphatic Abnormalities (58)
- Lysosomal Storage Diseases (728)
- MELAS Syndrome (16)
- Machado-Joseph Disease (28)
- Malformations of Cortical Development (89)
- Malformations of Cortical Development, Group II (4)
- Mannosidase Deficiency Diseases (26)
- Maple Syrup Urine Disease (4)
- Marfan Syndrome (55)
- Maxillofacial Abnormalities (154)
- May-Thurner Syndrome (14)
- Meconium Aspiration Syndrome (19)
- Megalencephaly (4)
- Meningocele (2)
- Meningomyelocele (43)
- Menkes Kinky Hair Syndrome (4)
- Mental Retardation, X-Linked (237)
- Metabolism, Inborn Errors (2,189)
- Metal Metabolism, Inborn Errors (175)
- Mevalonate Kinase Deficiency (4)
- Microcephaly (20)
- Micrognathism (13)
- Microphthalmos (5)
- Microstomia (4)
- Mineralocorticoid Excess Syndrome, Apparent (1)
- Mobius Syndrome (4)
- Mouth Abnormalities (153)
- Mucolipidoses (12)
- Mucopolysaccharidoses (183)
- Mucopolysaccharidosis I (61)
- Mucopolysaccharidosis II (60)
- Mucopolysaccharidosis III (38)
- Mucopolysaccharidosis IV (194)
- Mucopolysaccharidosis VI (29)
- Mucopolysaccharidosis VII (13)
- Muir-Torre Syndrome (3)
- Multicystic Dysplastic Kidney (8)
- Multiple Acyl Coenzyme A Dehydrogenase Deficiency (4)
- Multiple Endocrine Neoplasia (33)
- Multiple Endocrine Neoplasia Type 1 (15)
- Multiple Endocrine Neoplasia Type 2a (9)
- Multiple Endocrine Neoplasia Type 2b (5)
- Multiple Sulfatase Deficiency Disease (1)
- Muscular Dystrophies (509)
- Muscular Dystrophies, Limb-Girdle (36)
- Muscular Dystrophy, Duchenne (295)
- Muscular Dystrophy, Emery-Dreifuss (1)
- Muscular Dystrophy, Facioscapulohumeral (41)
- Muscular Dystrophy, Oculopharyngeal (12)
- Musculoskeletal Abnormalities (726)
- Myasthenic Syndromes, Congenital (11)
- Myocardial Bridging (3)
- Myotonia Congenita (6)
- Myotonic Dystrophy (59)
- Nail-Patella Syndrome (1)
- Neonatal Abstinence Syndrome (64)
- Neonatal Brachial Plexus Palsy (11)
- Neonatal Sepsis (123)
- Neoplastic Syndromes, Hereditary (620)
- Nephritis, Hereditary (15)
- Nervous System Malformations (396)
- Nesidioblastosis (1)
- Netherton Syndrome (8)
- Neural Tube Defects (136)
- Neuroacanthocytosis (1)
- Neurofibromatoses (239)
- Neurofibromatosis 1 (203)
- Neurofibromatosis 2 (48)
- Neuronal Ceroid-Lipofuscinoses (36)
- Nevus, Sebaceous of Jadassohn (5)
- Niemann-Pick Disease, Type A (48)
- Niemann-Pick Disease, Type B (1)
- Niemann-Pick Disease, Type C (48)
- Niemann-Pick Diseases (48)
- Noonan Syndrome (16)
- Nuchal Cord (2)
- Nystagmus, Congenital (3)
- Oculocerebrorenal Syndrome (5)
- Olivopontocerebellar Atrophies (2)
- Ophthalmia Neonatorum (2)
- Optic Atrophies, Hereditary (38)
- Optic Atrophy, Autosomal Dominant (5)
- Optic Atrophy, Hereditary, Leber (32)
- Ornithine Carbamoyltransferase Deficiency Disease (22)
- Orofaciodigital Syndromes (2)
- Osteoarthropathy, Primary Hypertrophic (2)
- Osteochondrodysplasias (196)
- Osteogenesis Imperfecta (54)
- 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 (13)
- Pelizaeus-Merzbacher Disease (5)
- Pemphigus, Benign Familial (3)
- Pentalogy of Cantrell (3)
- Periventricular Nodular Heterotopia (1)
- Peroxisomal Disorders (60)
- Persistent Fetal Circulation Syndrome (31)
- Persistent Hyperplastic Primary Vitreous (1)
- Peutz-Jeghers Syndrome (16)
- Phenylketonuria, Maternal (3)
- Phenylketonurias (117)
- Piebaldism (4)
- Pierre Robin Syndrome (9)
- Plagiocephaly (16)
- Plagiocephaly, Nonsynostotic (10)
- Platybasia (1)
- Polycystic Kidney Diseases (143)
- Polycystic Kidney, Autosomal Dominant (123)
- Polycystic Kidney, Autosomal Recessive (3)
- Polydactyly (5)
- Polymicrogyria (4)
- Porokeratosis (2)
- Porphyria Cutanea Tarda (40)
- Porphyria, Acute Intermittent (19)
- Porphyria, Erythropoietic (48)
- Porphyria, Variegate (7)
- Porphyrias, Hepatic (40)
- Port-Wine Stain (79)
- Prader-Willi Syndrome (101)
- Progeria (9)
- Prognathism (23)
- Prolidase Deficiency (1)
- Propionic Acidemia (12)
- Protein C Deficiency (4)
- Proteus Syndrome (6)
- Protoporphyria, Erythropoietic (17)
- Pseudohypoaldosteronism (5)
- Pseudohypoparathyroidism (16)
- Pseudopseudohypoparathyroidism (16)
- Pseudoxanthoma Elasticum (17)
- Pulmonary Atresia (8)
- Purine-Pyrimidine Metabolism, Inborn Errors (147)
- Pyelectasis (1)
- Pyruvate Carboxylase Deficiency Disease (1)
- Pyruvate Dehydrogenase Complex Deficiency Disease (4)
- Pyruvate Metabolism, Inborn Errors (23)
- Refsum Disease (8)
- Refsum Disease, Infantile (4)
- Renal Tubular Transport, Inborn Errors (159)
- Respiratory Distress Syndrome, Newborn (1,256)
- Respiratory System Abnormalities (30)
- Retinitis Pigmentosa (197)
- Retinopathy of Prematurity (117)
- Retrognathia (14)
- Rett Syndrome (57)
- Romano-Ward Syndrome (4)
- Rothmund-Thomson Syndrome (2)
- Rubella Syndrome, Congenital (2)
- Rubinstein-Taybi Syndrome (2)
- Sandhoff Disease (20)
- Sarcoglycanopathies (5)
- Scimitar Syndrome (4)
- Septo-Optic Dysplasia (2)
- Severe Combined Immunodeficiency (75)
- Sex Chromosome Disorders (179)
- Sialic Acid Storage Disease (1)
- Sickle Cell Trait (36)
- Silver-Russell Syndrome (3)
- Situs Inversus (30)
- Sjogren-Larsson Syndrome (3)
- Skin Abnormalities (335)
- Skin Diseases, Genetic (1,367)
- Smith-Lemli-Opitz Syndrome (14)
- Smith-Magenis Syndrome (12)
- Spastic Paraplegia, Hereditary (17)
- Spherocytosis, Hereditary (5)
- Sphingolipidoses (374)
- Spina Bifida Cystica (43)
- Spina Bifida Occulta (2)
- Spinal Dysraphism (140)
- Spinal Muscular Atrophies of Childhood (20)
- Spinocerebellar Ataxias (168)
- Spinocerebellar Degenerations (168)
- Steroid Metabolism, Inborn Errors (79)
- Stomatognathic System Abnormalities (303)
- Sulfatidosis (32)
- Syndactyly (8)
- Synostosis (59)
- Syphilis, Congenital (4)
- Talipes (88)
- Tangier Disease (5)
- Tarsal Coalition (2)
- Tay-Sachs Disease (25)
- Tay-Sachs Disease, AB Variant (3)
- Telangiectasia, Hereditary Hemorrhagic (71)
- Tetralogy of Fallot (62)
- Thalassemia (373)
- Thrombasthenia (13)
- Thrombocytopenia, Neonatal Alloimmune (11)
- Thyroid Dysgenesis (2)
- Tooth Abnormalities (84)
- Tooth, Supernumerary (2)
- Tourette Syndrome (176)
- Toxoplasmosis, Congenital (5)
- Tracheobronchomalacia (13)
- Tracheobronchomegaly (1)
- Tracheomalacia (5)
- Transient Tachypnea of the Newborn (27)
- Transposition of Great Vessels (39)
- Trichothiodystrophy Syndromes (1)
- Tricuspid Atresia (10)
- Trisomy 13 Syndrome (21)
- Trisomy 18 Syndrome (23)
- Truncus Arteriosus, Persistent (3)
- Tuberous Sclerosis (71)
- Turner Syndrome (88)
- Twins, Conjoined (1)
- Tyrosinemias (12)
- Unverricht-Lundborg Syndrome (5)
- Upper Extremity Deformities, Congenital (7)
- Urea Cycle Disorders, Inborn (63)
- Urogenital Abnormalities (369)
- Usher Syndromes (20)
- Vascular Malformations (375)
- Vascular Ring (1)
- Vein of Galen Malformations (2)
- Velopharyngeal Insufficiency (11)
- Vitelliform Macular Dystrophy (6)
- Von Hippel-Lindau Disease (38)
- Von Willebrand Disease, Type 1 (4)
- Von Willebrand Disease, Type 2 (2)
- Von Willebrand Disease, Type 3 (3)
- Von Willebrand Diseases (71)
- WAGR Syndrome (2)
- Waardenburg Syndrome (1)
- Walker-Warburg Syndrome (2)
- Werner Syndrome (2)
- Williams Syndrome (18)
- Wilms Tumor (216)
- Wiskott-Aldrich Syndrome (39)
- Wolf-Hirschhorn Syndrome (1)
- Wolff-Parkinson-White Syndrome (6)
- Wolfram Syndrome (8)
- Wolman Disease (29)
- X-Linked Combined Immunodeficiency Diseases (15)
- Xanthomatosis, Cerebrotendinous (8)
- Xeroderma Pigmentosum (11)
- Zellweger Syndrome (6)
- alpha-Mannosidosis (26)
- alpha-Thalassemia (14)
- beta-Mannosidosis (1)
- beta-Thalassemia (222)
- 22q11 Deletion Syndrome (40)
- 46, XX Disorders of Sex Development (53)