| 1 | Abnormalities, Drug-Induced | 42.9% |
| 2 | Beckwith-Wiedemann Syndrome | 35.6% |
| 3 | Wolf-Hirschhorn Syndrome | 35.6% |
| 4 | Prune Belly Syndrome | 31% |
| 5 | Twins, Conjoined | 31% |
| 6 | Waardenburg Syndrome | 31% |
| 7 | Eye Abnormalities | 30% |
| 8 | Holoprosencephaly | 30% |
| 9 | Cardiovascular Abnormalities | 30% |
| 10 | Smith-Magenis syndrome | 28.8% |
| 11 | Skin Abnormalities | 28.6% |
| 12 | Lymphatic Abnormalities | 28.6% |
| 13 | Congenital Microtia | 28.6% |
| 14 | Cri-du-Chat Syndrome | 28.2% |
| 15 | Down Syndrome | 28.2% |
| 16 | Trisomy 21 | 28.2% |
| 17 | Anencephaly | 27.7% |
| 18 | Congenital diaphragmatic hernia | 27.6% |
| 19 | Aicardi's syndrome | 24.9% |
| 20 | Rubinstein-Taybi Syndrome | 23.7% |
| 21 | Ectodermal Dysplasia | 23.6% |
| 22 | Aplasia Cutis Congenita | 23.6% |
| 23 | Prader-Willi Syndrome | 23.3% |
| 24 | Genetic Diseases, Inborn | 23.1% |
| 25 | Maxillofacial Abnormalities | 22.4% |
| 26 | Dural Arteriovenous Fistula | 22.4% |
| 27 | CHARGE Syndrome | 22.4% |
| 28 | Urogenital Abnormalities | 22.2% |
| 29 | Anophthalmos | 20.9% |
| 30 | Anus, Imperforate | 20.9% |
| 31 | Hydranencephaly | 20.9% |
| 32 | Microphthalmos | 20.9% |
| 33 | Neural Tube Defects | 20.9% |
| 34 | Tethered Cord Syndrome | 20.9% |
| 35 | Iniencephaly | 20.9% |
| 36 | Craniorachischisis | 20.9% |
| 37 | Limb Deformities, Congenital | 20.9% |
| 38 | Exencephaly | 20.9% |
| 39 | Septo-Optic Dysplasia | 20.9% |
| 40 | Craniofacial Abnormalities | 20.9% |
| 41 | Cortical Dysplasia | 20.9% |
| 42 | Malformations of Cortical Development | 20.9% |
| 43 | Anorectal Malformations | 20.9% |
| 44 | Bloom Syndrome | 20.5% |
| 45 | Microcephaly | 18.8% |
| 46 | Macrocephaly | 18.8% |
| 47 | Nail-Patella Syndrome | 18.1% |
| 48 | Xeroderma | 17.8% |
| 49 | Mobius Syndrome | 17.8% |
| 50 | Porencephaly | 17.6% |
| 51 | Marfan Syndrome | 17.4% |
| 52 | Classical Lissencephalies and Subcortical Band Heterotopias | 16.9% |
| 53 | Amelia | 16.9% |
| 54 | Arachnodactyly | 16.9% |
| 55 | Ectopia Cordis | 16.9% |
| 56 | Ectromelia | 16.9% |
| 57 | Hemimelia | 16.9% |
| 58 | Meningomyelocele | 16.9% |
| 59 | Phocomelia | 16.9% |
| 60 | Sirenomelia | 16.9% |
| 61 | Spina Bifida | 16.9% |
| 62 | Polydactyly | 16.9% |
| 63 | Brachydactyly | 16.9% |
| 64 | Plagiocephaly | 16.9% |
| 65 | Lower Extremity Deformities, Congenital | 16.9% |
| 66 | Upper Extremity Deformities, Congenital | 16.9% |
| 67 | Single umbilical artery | 16.9% |
| 68 | Craniosynostosis | 16.5% |
| 69 | Syndactyly | 16.5% |
| 70 | Brachycephaly | 16.5% |
| 71 | Fragile X Syndrome | 16.3% |
| 72 | Scimitar Syndrome | 16.3% |
| 73 | Polycystic Kidney Diseases | 15.9% |
| 74 | Williams Syndrome | 15.9% |
| 75 | Acrocephalosyndactylia | 15.8% |
| 76 | Blepharophimosis | 15.8% |
| 77 | Laryngostenosis | 15.8% |
| 78 | Mouth Abnormalities | 15.8% |
| 79 | Esophageal Atresia | 15.5% |
| 80 | Intestinal Atresia | 15.5% |
| 81 | Horseshoe Kidney | 15.5% |
| 82 | Pectus excavatum | 15.5% |
| 83 | Klippel-Feil Syndrome | 15.4% |
| 84 | Gastroschisis | 15.4% |
| 85 | Synostosis | 15.4% |
| 86 | Primary Ciliary Dyskinesia | 15.3% |
| 87 | Acrodermatitis | 15.3% |
| 88 | Lymphangiectasis, Intestinal | 15.3% |
| 89 | Gianotti-Crosti Syndrome | 15.3% |
| 90 | Alstrom Syndrome | 15.1% |
| 91 | Fetal Diseases | 15% |
| 92 | Kartagener Syndrome | 15% |
| 93 | Dermal Sinus | 14.9% |
| 94 | Spina Bifida Cystica | 14.9% |
| 95 | Spina Bifida Occulta | 14.9% |
| 96 | Lissencephaly | 14.9% |
| 97 | Polymicrogyria | 14.9% |
| 98 | Pachygyria | 14.9% |
| 99 | Schizencephaly | 14.9% |
| 100 | Periventricular Nodular Heterotopia | 14.9% |
| 101 | Poland Syndrome | 14.6% |
| 102 | Noonan Syndrome | 14.4% |
| 103 | Cockayne Syndrome | 14.4% |
| 104 | Abdominal Cramps | 14.3% |
| 105 | Amniotic Band Syndrome | 14.3% |
| 106 | Asphyxia Neonatorum | 14.3% |
| 107 | Infant, Premature, Diseases | 14.3% |
| 108 | Infantile Colic | 14.3% |
| 109 | Retinal Dysplasia | 14% |
| 110 | Turner Syndrome | 13.9% |
| 111 | Aniridia | 13.8% |
| 112 | Jaw Abnormalities | 13.7% |
| 113 | Cleft Palate | 13.5% |
| 114 | Epidermolysis Bullosa | 13.5% |
| 115 | Abnormalities, Radiation-Induced | 13.5% |
| 116 | Smith-Lemli-Opitz Syndrome | 13.1% |
| 117 | Polycystic Kidney, Autosomal Dominant | 13.1% |
| 118 | Klinefelter Syndrome | 12.8% |
| 119 | Arthrogryposis | 12.7% |
| 120 | Choanal Atresia | 12.7% |
| 121 | Tracheobronchomegaly | 12.7% |
| 122 | Laryngocele | 12.7% |
| 123 | Aortic coarctation | 12.6% |
| 124 | Cor Triatriatum | 12.6% |
| 125 | Coronary Vessel Anomalies | 12.6% |
| 126 | Dental Enamel Hypoplasia | 12.6% |
| 127 | Patent ductus arteriosus | 12.6% |
| 128 | Ebstein Anomaly | 12.6% |
| 129 | Heart Septal Defects | 12.6% |
| 130 | Hypodontia | 12.6% |
| 131 | Macrostomia | 12.6% |
| 132 | Meningocele | 12.6% |
| 133 | Microstomia | 12.6% |
| 134 | Tetralogy of Fallot | 12.6% |
| 135 | Transposition of Great Vessels | 12.6% |
| 136 | Hypoplastic Left Heart Syndrome | 12.6% |
| 137 | May-Thurner Syndrome | 12.6% |
| 138 | Encephalocele | 12.6% |
| 139 | Ichthyosis, X-Linked | 12.5% |
| 140 | Choledochal Cyst | 12.5% |
| 141 | Craniofacial Dysostosis | 12.5% |
| 142 | Hermaphroditism | 12.5% |
| 143 | Disorders of Sex Development | 12.5% |
| 144 | Wolff-Parkinson-White Syndrome | 12.4% |
| 145 | Cryptorchidism | 12.3% |
| 146 | Hypospadias | 12.3% |
| 147 | Micrognathism | 12.3% |
| 148 | Pierre Robin Syndrome | 12.3% |
| 149 | Central Nervous System Cysts | 12.2% |
| 150 | Dandy-Walker Syndrome | 12.2% |
| 151 | POEMS Syndrome | 12% |
| 152 | Cystic Fibrosis | 11.4% |
| 153 | Aortopulmonary Septal Defect | 11.1% |
| 154 | Double Outlet Right Ventricle | 11.1% |
| 155 | Endocardial Cushion Defects | 11.1% |
| 156 | Myocardial bridging | 11.1% |
| 157 | Aorticopulmonary Septal Defect | 11.1% |
| 158 | Charcot-Marie-Tooth Disease | 11% |
| 159 | Antley-Bixler Syndrome Phenotype | 11% |
| 160 | Hyperkeratosis, Epidermolytic | 10.9% |
| 161 | Retrognathia | 10.8% |
| 162 | Laryngomalacia | 10.5% |
| 163 | Truncus Arteriosus, Persistent | 10.4% |
| 164 | Goldenhar Syndrome | 10.4% |
| 165 | Familial Mediterranean Fever | 10.3% |
| 166 | Pectus carinatum | 10.3% |
| 167 | Sjogren-Larsson Syndrome | 10.3% |
| 168 | Kallmann Syndrome | 10.2% |
| 169 | Bladder Exstrophy | 10.2% |
| 170 | Epispadias | 10.2% |
| 171 | Pseudoxanthoma Elasticum | 10.1% |
| 172 | Multicystic Dysplastic Kidney | 10.1% |
| 173 | Dextrocardia | 10.1% |
| 174 | Long QT Syndrome | 10.1% |
| 175 | Platybasia | 10.1% |
| 176 | Tricuspid Atresia | 10.1% |
| 177 | Arrhythmogenic Right Ventricular Dysplasia | 10.1% |
| 178 | Gonadal Dysgenesis | 10% |
| 179 | Neoplastic Syndromes, Hereditary | 10% |
| 180 | Bronchomalacia | 10% |
| 181 | Adrenogenital Syndrome | 10% |
| 182 | Tracheomalacia | 10% |
| 183 | Ovotesticular Disorders of Sex Development | 10% |
| 184 | Hyperandrogenism | 9.7% |
| 185 | Prognathism | 9.6% |
| 186 | Anemia, Neonatal | 9.3% |
| 187 | Meconium Aspiration Syndrome | 9.3% |
| 188 | Multiple Epiphyseal Dysplasia | 9.3% |
| 189 | Osteochondrodysplasias | 9.3% |
| 190 | Pelger-Huet Anomaly | 9.3% |
| 191 | Persistent Fetal Circulation Syndrome | 9.3% |
| 192 | Werner Syndrome | 9.3% |
| 193 | Myasthenic Syndromes, Congenital | 9.3% |
| 194 | Umbilical hernia | 9.1% |
| 195 | Xeroderma Pigmentosum | 9% |
| 196 | Mandibulofacial Dysostosis | 8.9% |
| 197 | Romano-Ward Syndrome | 8.9% |
| 198 | Tuberous Sclerosis | 8.7% |
| 199 | Talipes | 8.4% |
| 200 | Zellweger Syndrome | 8.4% |
| 201 | Rett Syndrome | 8.2% |
| 202 | Refsum Disease | 8.1% |
| 203 | Congenital clubfoot | 8.1% |
| 204 | Vertical Talus | 8.1% |
| 205 | Anemia, Sickle Cell | 8% |
| 206 | Thalassemia | 8% |
| 207 | Muscular Dystrophy, Duchenne | 8% |
| 208 | Basal Cell Nevus Syndrome | 7.9% |
| 209 | Dwarfism | 7.3% |
| 210 | Neonatal Abstinence Syndrome | 7.1% |
| 211 | Albinism | 7.1% |
| 212 | Paralysis, Obstetric | 7% |
| 213 | Retinopathy of Prematurity | 7% |
| 214 | Fetal Growth Retardation | 6.9% |
| 215 | Muscular Dystrophy | 6.8% |
| 216 | Osteogenesis Imperfecta | 6.8% |
| 217 | Fetal Hypoxia | 6.8% |
| 218 | Congenital nystagmus | 6.8% |
| 219 | Fetal Alcohol Spectrum Disorders | 6.8% |
| 220 | Mucopolysaccharidosis II | 6.8% |
| 221 | Amino Acid Metabolism, Inborn Errors | 6.8% |
| 222 | Carbohydrate Metabolism, Inborn Errors | 6.8% |
| 223 | Metal Metabolism, Inborn Errors | 6.8% |
| 224 | Progeria | 6.8% |
| 225 | Lysosomal Storage Diseases | 6.8% |
| 226 | Cytochrome-c Oxidase Deficiency | 6.8% |
| 227 | Peroxisomal Disorders | 6.8% |
| 228 | Toxoplasmosis, Congenital | 6.8% |
| 229 | Bronchopulmonary Dysplasia | 6.7% |
| 230 | Syphilis, Congenital | 6.7% |
| 231 | Sickle Cell Trait | 6.5% |
| 232 | Arteriovenous fistula | 6.4% |
| 233 | Menkes Kinky Hair Syndrome | 5.9% |
| 234 | Neuronal Ceroid-Lipofuscinoses | 5.8% |
| 235 | Wiskott-Aldrich Syndrome | 5.7% |
| 236 | Alkaptonuria | 5.6% |
| 237 | Glycogen Storage Disease | 5.6% |
| 238 | Hypophosphatasia | 5.6% |
| 239 | Propionic acidemia | 5.6% |
| 240 | Autoimmune Lymphoproliferative Syndrome | 5.6% |
| 241 | Dihydropyrimidine Dehydrogenase Deficiency | 5.6% |
| 242 | Cystinosis | 5.6% |
| 243 | Congenital Hyperinsulinism | 5.5% |
| 244 | Chorioamnionitis | 5.4% |
| 245 | Angioedemas, Hereditary | 5.4% |
| 246 | Respiratory Distress Syndrome, Newborn | 5.3% |
| 247 | Cutis Laxa | 5.2% |
| 248 | Retinitis Pigmentosa | 5.1% |
| 249 | Pigmentary retinopathy | 5.1% |
| 250 | Porokeratosis | 5.1% |
| 251 | Keratoderma, Palmoplantar | 5.1% |
| 252 | Chronic granulomatous disease | 5% |
| 253 | Welander Distal Myopathy | 5% |
| 254 | Myotonic Dystrophy | 5% |
| 255 | Glycogen Storage Disease Type I | 4.9% |
| 256 | Glycogen Storage Disease Type V | 4.9% |
| 257 | Mucopolysaccharidosis III | 4.9% |
| 258 | Glycogen storage disease type II | 4.8% |
| 259 | Acute Chest Syndrome | 4.8% |
| 260 | Galactosemias | 4.7% |
| 261 | Urea Cycle Disorders, Inborn | 4.7% |
| 262 | Tyrosinemias | 4.7% |
| 263 | Adrenoleukodystrophy | 4.7% |
| 264 | Fabry Disease | 4.6% |
| 265 | Denys-Drash Syndrome | 4.6% |
| 266 | Amyloid Neuropathies, Familial | 4.5% |
| 267 | Hepatolenticular Degeneration | 4.4% |
| 268 | Hydrops Fetalis | 4.4% |
| 269 | Hyaline Membrane Disease | 4.2% |
| 270 | Duane Retraction Syndrome | 4.2% |
| 271 | Hypolipoproteinemias | 4.1% |
| 272 | Papillon-Lefevre Disease | 4.1% |
| 273 | Hyperlipidemia, Familial Combined | 4.1% |
| 274 | Porphyrias, Hepatic | 4.1% |
| 275 | Hyperlipoproteinemia Type III | 4.1% |
| 276 | Optic Atrophy, Hereditary, Leber | 4.1% |
| 277 | Hyperphosphaturia | 4.1% |
| 278 | Gaucher Disease | 4.1% |
| 279 | Peutz-Jeghers Syndrome | 4% |
| 280 | Myotonia Congenita | 4% |
| 281 | Thrombasthenia | 4% |
| 282 | Antithrombin III Deficiency | 4% |
| 283 | Protein C Deficiency | 4% |
| 284 | Brain Diseases, Metabolic, Inborn | 4% |
| 285 | Afibrinogenemia | 4% |
| 286 | Dystonia Musculorum Deformans | 4% |
| 287 | Factor VII Deficiency | 4% |
| 288 | Factor X Deficiency | 4% |
| 289 | Factor XII Deficiency | 4% |
| 290 | Hemophilia A | 4% |
| 291 | Leukomalacia, Periventricular | 4% |
| 292 | Activated Protein C Resistance | 4% |
| 293 | Factor II deficiency | 4% |
| 294 | Factor VIII Deficiency | 4% |
| 295 | Factor V deficiency | 4% |
| 296 | Factor XI Deficiency | 4% |
| 297 | Hypoprothrombinemias | 4% |
| 298 | Fanconi Anemia | 4% |
| 299 | Nesidioblastosis | 4% |
| 300 | Lafora Disease | 4% |
| 301 | Unverricht-Lundborg Syndrome | 4% |
| 302 | Anemia, Diamond-Blackfan | 3.9% |
| 303 | Homocystinuria | 3.9% |
| 304 | Leigh Disease | 3.9% |
| 305 | Tay-Sachs Disease | 3.9% |
| 306 | Canavan Disease | 3.8% |
| 307 | Alexander Disease | 3.8% |
| 308 | Ophthalmia Neonatorum | 3.8% |
| 309 | Hypoalphalipoproteinemias | 3.7% |
| 310 | Carbamoyl-Phosphate Synthase I Deficiency Disease | 3.6% |
| 311 | Niemann-Pick Disease, Type C | 3.6% |
| 312 | Multiple Endocrine Neoplasia | 3.5% |
| 313 | Ataxia Telangiectasia | 3.4% |
| 314 | Congenital Hypothyroidism | 3.4% |
| 315 | Familial Periodic Paralysis | 3.4% |
| 316 | Dermatitis, Atopic | 3.4% |
| 317 | Lactose Intolerance | 3.3% |
| 318 | Variegate Porphyria | 3.3% |
| 319 | Acute intermittent porphyria | 3.3% |
| 320 | Porphyria Cutanea Tarda | 3.3% |
| 321 | Hyperhomocysteinemia | 3.3% |
| 322 | Renal Aminoacidurias | 3.3% |
| 323 | Fanconi Syndrome | 3.3% |
| 324 | Pseudohypoaldosteronism | 3.3% |
| 325 | Liddle Syndrome | 3.3% |
| 326 | Hyperlipoproteinemia Type IV | 3.3% |
| 327 | Hyperlipoproteinemia Type V | 3.3% |
| 328 | Hypokalemic periodic paralysis | 3% |
| 329 | Cystinuria | 2.9% |
| 330 | Kernicterus | 2.9% |
| 331 | Behcet Syndrome | 2.9% |
| 332 | Gout | 2.8% |
| 333 | Multiple Endocrine Neoplasia Type 1 | 2.8% |
| 334 | Pseudohypoparathyroidism | 2.8% |
| 335 | Friedreich Ataxia | 2.7% |
| 336 | Renal tubular acidosis | 2.7% |
| 337 | Huntington Disease | 2.5% |
| 338 | Arthritis, Gouty | 2.5% |
| 339 | Familial Hypophosphatemic Rickets | 2.2% |
| 340 | Nephroblastoma | 2.2% |
| 341 | Glycosuria, Renal | 2% |
| 342 | Adenomatous Polyposis Coli | 2% |
| 343 | MELAS Syndrome | 1.6% |