| 1 | Abnormalities, Drug-Induced | 31% |
| 2 | Situs Inversus | 31% |
| 3 | Anencephaly | 30.6% |
| 4 | Beckwith-Wiedemann Syndrome | 23.3% |
| 5 | Wolf-Hirschhorn Syndrome | 23.3% |
| 6 | Eye Abnormalities | 22% |
| 7 | Cardiovascular Abnormalities | 22% |
| 8 | Skin Abnormalities | 20.9% |
| 9 | Lymphatic Abnormalities | 20.9% |
| 10 | Congenital Microtia | 20.9% |
| 11 | Congenital diaphragmatic hernia | 20.2% |
| 12 | Prune Belly Syndrome | 20% |
| 13 | Waardenburg Syndrome | 20% |
| 14 | Holoprosencephaly | 19% |
| 15 | Smith-Magenis syndrome | 18.9% |
| 16 | Cri-du-Chat Syndrome | 18.5% |
| 17 | Down Syndrome | 18.5% |
| 18 | Trisomy 21 | 18.5% |
| 19 | Genetic Diseases, Inborn | 18.5% |
| 20 | Aicardi's syndrome | 16.9% |
| 21 | Urogenital Abnormalities | 16.4% |
| 22 | Ectodermal Dysplasia | 15.6% |
| 23 | Aplasia Cutis Congenita | 15.6% |
| 24 | Prader-Willi Syndrome | 15.4% |
| 25 | CHARGE Syndrome | 15.3% |
| 26 | Rubinstein-Taybi Syndrome | 15.2% |
| 27 | Maxillofacial Abnormalities | 14.1% |
| 28 | Dural Arteriovenous Fistula | 14.1% |
| 29 | Dextrocardia | 13.9% |
| 30 | Anophthalmos | 13.6% |
| 31 | Anus, Imperforate | 13.6% |
| 32 | Hydranencephaly | 13.6% |
| 33 | Microphthalmos | 13.6% |
| 34 | Neural Tube Defects | 13.6% |
| 35 | Tethered Cord Syndrome | 13.6% |
| 36 | Iniencephaly | 13.6% |
| 37 | Craniorachischisis | 13.6% |
| 38 | Limb Deformities, Congenital | 13.6% |
| 39 | Exencephaly | 13.6% |
| 40 | Septo-Optic Dysplasia | 13.6% |
| 41 | Craniofacial Abnormalities | 13.6% |
| 42 | Cortical Dysplasia | 13.6% |
| 43 | Malformations of Cortical Development | 13.6% |
| 44 | Anorectal Malformations | 13.6% |
| 45 | Bloom Syndrome | 13.3% |
| 46 | Nail-Patella Syndrome | 12.3% |
| 47 | Fetal Diseases | 12.2% |
| 48 | Xeroderma | 12.2% |
| 49 | Mobius Syndrome | 12.2% |
| 50 | Kartagener Syndrome | 11.6% |
| 51 | Marfan Syndrome | 11.4% |
| 52 | Microcephaly | 10.7% |
| 53 | Macrocephaly | 10.7% |
| 54 | Polycystic Kidney Diseases | 10.5% |
| 55 | Williams Syndrome | 10.5% |
| 56 | Abdominal Cramps | 10.3% |
| 57 | Amniotic Band Syndrome | 10.3% |
| 58 | Asphyxia Neonatorum | 10.3% |
| 59 | Blepharophimosis | 10.3% |
| 60 | Infant, Premature, Diseases | 10.3% |
| 61 | Laryngostenosis | 10.3% |
| 62 | Mouth Abnormalities | 10.3% |
| 63 | Infantile Colic | 10.3% |
| 64 | Scimitar Syndrome | 10.2% |
| 65 | Esophageal Atresia | 10.2% |
| 66 | Intestinal Atresia | 10.2% |
| 67 | Horseshoe Kidney | 10.2% |
| 68 | Pectus excavatum | 10.2% |
| 69 | Klippel-Feil Syndrome | 10.1% |
| 70 | Gastroschisis | 10.1% |
| 71 | Synostosis | 10.1% |
| 72 | Acrodermatitis | 10% |
| 73 | Lymphangiectasis, Intestinal | 10% |
| 74 | Gianotti-Crosti Syndrome | 10% |
| 75 | Abnormalities, Radiation-Induced | 10% |
| 76 | Amelia | 9.9% |
| 77 | Arachnodactyly | 9.9% |
| 78 | Ectopia Cordis | 9.9% |
| 79 | Ectromelia | 9.9% |
| 80 | Hemimelia | 9.9% |
| 81 | Meningomyelocele | 9.9% |
| 82 | Phocomelia | 9.9% |
| 83 | Sirenomelia | 9.9% |
| 84 | Spina Bifida | 9.9% |
| 85 | Polydactyly | 9.9% |
| 86 | Brachydactyly | 9.9% |
| 87 | Plagiocephaly | 9.9% |
| 88 | Lower Extremity Deformities, Congenital | 9.9% |
| 89 | Upper Extremity Deformities, Congenital | 9.9% |
| 90 | Single umbilical artery | 9.9% |
| 91 | Craniosynostosis | 9.8% |
| 92 | Syndactyly | 9.8% |
| 93 | Brachycephaly | 9.8% |
| 94 | Fragile X Syndrome | 9.7% |
| 95 | Porencephaly | 9.7% |
| 96 | Cockayne Syndrome | 9.5% |
| 97 | Primary Ciliary Dyskinesia | 9.4% |
| 98 | Classical Lissencephalies and Subcortical Band Heterotopias | 9.2% |
| 99 | Retinal Dysplasia | 9.2% |
| 100 | Alstrom Syndrome | 9.1% |
| 101 | Aniridia | 9.1% |
| 102 | Epidermolysis Bullosa | 8.9% |
| 103 | Acrocephalosyndactylia | 8.7% |
| 104 | Noonan Syndrome | 8.6% |
| 105 | Cystic Fibrosis | 8.5% |
| 106 | Smith-Lemli-Opitz Syndrome | 8.4% |
| 107 | Arthrogryposis | 8.3% |
| 108 | Choanal Atresia | 8.3% |
| 109 | Tracheobronchomegaly | 8.3% |
| 110 | Laryngocele | 8.3% |
| 111 | Choledochal Cyst | 8.2% |
| 112 | Hermaphroditism | 8.2% |
| 113 | Disorders of Sex Development | 8.2% |
| 114 | Cryptorchidism | 8.1% |
| 115 | Dermal Sinus | 8.1% |
| 116 | Spina Bifida Cystica | 8.1% |
| 117 | Spina Bifida Occulta | 8.1% |
| 118 | Lissencephaly | 8.1% |
| 119 | Polymicrogyria | 8.1% |
| 120 | Pachygyria | 8.1% |
| 121 | Schizencephaly | 8.1% |
| 122 | Hypospadias | 8.1% |
| 123 | Periventricular Nodular Heterotopia | 8.1% |
| 124 | Central Nervous System Cysts | 8.1% |
| 125 | Poland Syndrome | 8% |
| 126 | Dandy-Walker Syndrome | 8% |
| 127 | POEMS Syndrome | 7.9% |
| 128 | Jaw Abnormalities | 7.9% |
| 129 | Ichthyosis, X-Linked | 7.9% |
| 130 | Turner Syndrome | 7.8% |
| 131 | Polycystic Kidney, Autosomal Dominant | 7.7% |
| 132 | Cleft Palate | 7.6% |
| 133 | Aortic coarctation | 7.4% |
| 134 | Cor Triatriatum | 7.4% |
| 135 | Coronary Vessel Anomalies | 7.4% |
| 136 | Dental Enamel Hypoplasia | 7.4% |
| 137 | Patent ductus arteriosus | 7.4% |
| 138 | Ebstein Anomaly | 7.4% |
| 139 | Heart Septal Defects | 7.4% |
| 140 | Hypodontia | 7.4% |
| 141 | Macrostomia | 7.4% |
| 142 | Meningocele | 7.4% |
| 143 | Microstomia | 7.4% |
| 144 | Tetralogy of Fallot | 7.4% |
| 145 | Transposition of Great Vessels | 7.4% |
| 146 | Hypoplastic Left Heart Syndrome | 7.4% |
| 147 | May-Thurner Syndrome | 7.4% |
| 148 | Encephalocele | 7.4% |
| 149 | Craniofacial Dysostosis | 7.4% |
| 150 | Neoplastic Syndromes, Hereditary | 7.3% |
| 151 | Wolff-Parkinson-White Syndrome | 7.3% |
| 152 | Klinefelter Syndrome | 7.1% |
| 153 | Meconium Aspiration Syndrome | 6.9% |
| 154 | Laryngomalacia | 6.9% |
| 155 | Anemia, Neonatal | 6.8% |
| 156 | Multiple Epiphyseal Dysplasia | 6.8% |
| 157 | Osteochondrodysplasias | 6.8% |
| 158 | Pelger-Huet Anomaly | 6.8% |
| 159 | Persistent Fetal Circulation Syndrome | 6.8% |
| 160 | Werner Syndrome | 6.8% |
| 161 | Myasthenic Syndromes, Congenital | 6.8% |
| 162 | Pectus carinatum | 6.8% |
| 163 | Bladder Exstrophy | 6.7% |
| 164 | Epispadias | 6.7% |
| 165 | Umbilical hernia | 6.7% |
| 166 | Pseudoxanthoma Elasticum | 6.7% |
| 167 | Familial Mediterranean Fever | 6.7% |
| 168 | Multicystic Dysplastic Kidney | 6.6% |
| 169 | Micrognathism | 6.6% |
| 170 | Pierre Robin Syndrome | 6.6% |
| 171 | Charcot-Marie-Tooth Disease | 6.5% |
| 172 | Antley-Bixler Syndrome Phenotype | 6.5% |
| 173 | Sjogren-Larsson Syndrome | 6.4% |
| 174 | Kallmann Syndrome | 6.3% |
| 175 | Hyperkeratosis, Epidermolytic | 6.2% |
| 176 | Aortopulmonary Septal Defect | 6.1% |
| 177 | Double Outlet Right Ventricle | 6.1% |
| 178 | Endocardial Cushion Defects | 6.1% |
| 179 | Myocardial bridging | 6.1% |
| 180 | Aorticopulmonary Septal Defect | 6.1% |
| 181 | Xeroderma Pigmentosum | 6% |
| 182 | Long QT Syndrome | 6% |
| 183 | Platybasia | 6% |
| 184 | Tricuspid Atresia | 6% |
| 185 | Arrhythmogenic Right Ventricular Dysplasia | 6% |
| 186 | Gonadal Dysgenesis | 5.9% |
| 187 | Bronchomalacia | 5.9% |
| 188 | Adrenogenital Syndrome | 5.9% |
| 189 | Tracheomalacia | 5.9% |
| 190 | Ovotesticular Disorders of Sex Development | 5.9% |
| 191 | Retrognathia | 5.8% |
| 192 | Truncus Arteriosus, Persistent | 5.4% |
| 193 | Goldenhar Syndrome | 5.4% |
| 194 | Zellweger Syndrome | 5.4% |
| 195 | Dwarfism | 5.4% |
| 196 | Hyperandrogenism | 5.4% |
| 197 | Anemia, Sickle Cell | 5.3% |
| 198 | Thalassemia | 5.3% |
| 199 | Neonatal Abstinence Syndrome | 5.3% |
| 200 | Tuberous Sclerosis | 5.3% |
| 201 | Basal Cell Nevus Syndrome | 5.3% |
| 202 | Muscular Dystrophy, Duchenne | 5.2% |
| 203 | Prognathism | 5.2% |
| 204 | Fetal Growth Retardation | 5.1% |
| 205 | Muscular Dystrophy | 5% |
| 206 | Osteogenesis Imperfecta | 5% |
| 207 | Fetal Hypoxia | 5% |
| 208 | Congenital nystagmus | 5% |
| 209 | Fetal Alcohol Spectrum Disorders | 5% |
| 210 | Toxoplasmosis, Congenital | 5% |
| 211 | Syphilis, Congenital | 5% |
| 212 | Mandibulofacial Dysostosis | 4.9% |
| 213 | Rett Syndrome | 4.9% |
| 214 | Romano-Ward Syndrome | 4.9% |
| 215 | Refsum Disease | 4.9% |
| 216 | Albinism | 4.6% |
| 217 | Paralysis, Obstetric | 4.5% |
| 218 | Retinopathy of Prematurity | 4.5% |
| 219 | Amino Acid Metabolism, Inborn Errors | 4.4% |
| 220 | Carbohydrate Metabolism, Inborn Errors | 4.4% |
| 221 | Metal Metabolism, Inborn Errors | 4.4% |
| 222 | Progeria | 4.4% |
| 223 | Lysosomal Storage Diseases | 4.4% |
| 224 | Cytochrome-c Oxidase Deficiency | 4.4% |
| 225 | Peroxisomal Disorders | 4.4% |
| 226 | Talipes | 4.4% |
| 227 | Bronchopulmonary Dysplasia | 4.4% |
| 228 | Autoimmune Lymphoproliferative Syndrome | 4.1% |
| 229 | Congenital clubfoot | 4.1% |
| 230 | Vertical Talus | 4.1% |
| 231 | Congenital Hyperinsulinism | 4.1% |
| 232 | Chorioamnionitis | 4% |
| 233 | Angioedemas, Hereditary | 4% |
| 234 | Mucopolysaccharidosis II | 3.9% |
| 235 | Sickle Cell Trait | 3.9% |
| 236 | Wiskott-Aldrich Syndrome | 3.8% |
| 237 | Neuronal Ceroid-Lipofuscinoses | 3.5% |
| 238 | Menkes Kinky Hair Syndrome | 3.5% |
| 239 | Arteriovenous fistula | 3.5% |
| 240 | Respiratory Distress Syndrome, Newborn | 3.4% |
| 241 | Cutis Laxa | 3.4% |
| 242 | Retinitis Pigmentosa | 3.4% |
| 243 | Pigmentary retinopathy | 3.4% |
| 244 | Porokeratosis | 3.3% |
| 245 | Keratoderma, Palmoplantar | 3.3% |
| 246 | Chronic granulomatous disease | 3.3% |
| 247 | Myotonic Dystrophy | 3.3% |
| 248 | Welander Distal Myopathy | 3.3% |
| 249 | Alkaptonuria | 3.3% |
| 250 | Glycogen Storage Disease | 3.3% |
| 251 | Hypophosphatasia | 3.3% |
| 252 | Propionic acidemia | 3.3% |
| 253 | Dihydropyrimidine Dehydrogenase Deficiency | 3.3% |
| 254 | Cystinosis | 3.3% |
| 255 | Acute Chest Syndrome | 2.8% |
| 256 | Amyloid Neuropathies, Familial | 2.8% |
| 257 | Ophthalmia Neonatorum | 2.8% |
| 258 | Galactosemias | 2.8% |
| 259 | Urea Cycle Disorders, Inborn | 2.8% |
| 260 | Tyrosinemias | 2.8% |
| 261 | Adrenoleukodystrophy | 2.7% |
| 262 | Duane Retraction Syndrome | 2.7% |
| 263 | Hepatolenticular Degeneration | 2.7% |
| 264 | Porphyrias, Hepatic | 2.7% |
| 265 | Glycogen Storage Disease Type I | 2.7% |
| 266 | Glycogen Storage Disease Type V | 2.7% |
| 267 | Hydrops Fetalis | 2.7% |
| 268 | Mucopolysaccharidosis III | 2.7% |
| 269 | Glycogen storage disease type II | 2.7% |
| 270 | Peutz-Jeghers Syndrome | 2.7% |
| 271 | Myotonia Congenita | 2.6% |
| 272 | Thrombasthenia | 2.6% |
| 273 | Antithrombin III Deficiency | 2.6% |
| 274 | Protein C Deficiency | 2.6% |
| 275 | Brain Diseases, Metabolic, Inborn | 2.6% |
| 276 | Fabry Disease | 2.6% |
| 277 | Afibrinogenemia | 2.6% |
| 278 | Dystonia Musculorum Deformans | 2.6% |
| 279 | Factor VII Deficiency | 2.6% |
| 280 | Factor X Deficiency | 2.6% |
| 281 | Factor XII Deficiency | 2.6% |
| 282 | Hemophilia A | 2.6% |
| 283 | Leukomalacia, Periventricular | 2.6% |
| 284 | Activated Protein C Resistance | 2.6% |
| 285 | Factor II deficiency | 2.6% |
| 286 | Factor VIII Deficiency | 2.6% |
| 287 | Factor V deficiency | 2.6% |
| 288 | Factor XI Deficiency | 2.6% |
| 289 | Hypoprothrombinemias | 2.6% |
| 290 | Fanconi Anemia | 2.6% |
| 291 | Nesidioblastosis | 2.6% |
| 292 | Lafora Disease | 2.6% |
| 293 | Unverricht-Lundborg Syndrome | 2.6% |
| 294 | Anemia, Diamond-Blackfan | 2.6% |
| 295 | Denys-Drash Syndrome | 2.6% |
| 296 | Ataxia Telangiectasia | 2.5% |
| 297 | Hyaline Membrane Disease | 2.5% |
| 298 | Optic Atrophy, Hereditary, Leber | 2.4% |
| 299 | Hypolipoproteinemias | 2.4% |
| 300 | Papillon-Lefevre Disease | 2.4% |
| 301 | Hyperlipidemia, Familial Combined | 2.4% |
| 302 | Hyperlipoproteinemia Type III | 2.4% |
| 303 | Hyperphosphaturia | 2.4% |
| 304 | Canavan Disease | 2.3% |
| 305 | Alexander Disease | 2.3% |
| 306 | Multiple Endocrine Neoplasia | 2.3% |
| 307 | Homocystinuria | 2.2% |
| 308 | Congenital Hypothyroidism | 2.2% |
| 309 | Dermatitis, Atopic | 2.2% |
| 310 | Leigh Disease | 2.2% |
| 311 | Gaucher Disease | 2.1% |
| 312 | Hypoalphalipoproteinemias | 2% |
| 313 | Carbamoyl-Phosphate Synthase I Deficiency Disease | 2% |
| 314 | Familial Periodic Paralysis | 2% |
| 315 | Lactose Intolerance | 2% |
| 316 | Variegate Porphyria | 2% |
| 317 | Acute intermittent porphyria | 2% |
| 318 | Porphyria Cutanea Tarda | 2% |
| 319 | Hyperhomocysteinemia | 2% |
| 320 | Tay-Sachs Disease | 1.9% |
| 321 | Renal Aminoacidurias | 1.9% |
| 322 | Fanconi Syndrome | 1.9% |
| 323 | Pseudohypoaldosteronism | 1.9% |
| 324 | Liddle Syndrome | 1.9% |
| 325 | Hyperlipoproteinemia Type IV | 1.9% |
| 326 | Hyperlipoproteinemia Type V | 1.9% |
| 327 | Kernicterus | 1.9% |
| 328 | Behcet Syndrome | 1.9% |
| 329 | Niemann-Pick Disease, Type C | 1.8% |
| 330 | Gout | 1.7% |
| 331 | Multiple Endocrine Neoplasia Type 1 | 1.6% |
| 332 | Pseudohypoparathyroidism | 1.6% |
| 333 | Huntington Disease | 1.6% |
| 334 | Friedreich Ataxia | 1.6% |
| 335 | Hypokalemic periodic paralysis | 1.6% |
| 336 | Renal tubular acidosis | 1.6% |
| 337 | Cystinuria | 1.6% |
| 338 | Nephroblastoma | 1.5% |
| 339 | Arthritis, Gouty | 1.4% |
| 340 | Adenomatous Polyposis Coli | 1.3% |
| 341 | Familial Hypophosphatemic Rickets | 1.2% |
| 342 | Glycosuria, Renal | 1.2% |
| 343 | MELAS Syndrome | 1% |