| 1 | Amniotic Band Syndrome | 42.9% |
| 2 | Asphyxia Neonatorum | 42.9% |
| 3 | Infant, Premature, Diseases | 42.9% |
| 4 | Anemia, Neonatal | 27.9% |
| 5 | Persistent Fetal Circulation Syndrome | 27.9% |
| 6 | Umbilical hernia | 27.4% |
| 7 | Deformity | 23.1% |
| 8 | Genetic Diseases, Inborn | 23.1% |
| 9 | Cystic Fibrosis | 22.9% |
| 10 | Neonatal Abstinence Syndrome | 21.4% |
| 11 | Paralysis, Obstetric | 20.9% |
| 12 | Retinopathy of Prematurity | 20.9% |
| 13 | Xeroderma | 20.5% |
| 14 | Mobius Syndrome | 20.5% |
| 15 | Congenital nystagmus | 20.5% |
| 16 | Toxoplasmosis, Congenital | 20.3% |
| 17 | Bronchopulmonary Dysplasia | 20.2% |
| 18 | Syphilis, Congenital | 20.2% |
| 19 | Meconium Aspiration Syndrome | 18.6% |
| 20 | Congenital Hyperinsulinism | 16.4% |
| 21 | Respiratory Distress Syndrome, Newborn | 15.8% |
| 22 | Beckwith-Wiedemann Syndrome | 15.3% |
| 23 | Wolf-Hirschhorn Syndrome | 15.3% |
| 24 | Fetal Diseases | 15% |
| 25 | Abnormalities, Drug-Induced | 14.3% |
| 26 | Situs Inversus | 14.3% |
| 27 | Ichthyosis, X-Linked | 13.2% |
| 28 | Hyaline Membrane Disease | 12.6% |
| 29 | Smith-Magenis syndrome | 12.3% |
| 30 | Aicardi's syndrome | 12.2% |
| 31 | Cri-du-Chat Syndrome | 12.1% |
| 32 | Down Syndrome | 12.1% |
| 33 | Trisomy 21 | 12.1% |
| 34 | CHARGE Syndrome | 12.1% |
| 35 | Leukomalacia, Periventricular | 12% |
| 36 | Nesidioblastosis | 11.9% |
| 37 | Holoprosencephaly | 11.7% |
| 38 | Hyperkeratosis, Epidermolytic | 11.4% |
| 39 | Ophthalmia Neonatorum | 11.3% |
| 40 | Sjogren-Larsson Syndrome | 11% |
| 41 | Fragile X Syndrome | 10.9% |
| 42 | Familial Mediterranean Fever | 10.3% |
| 43 | Prune Belly Syndrome | 10.3% |
| 44 | Twins, Conjoined | 10.3% |
| 45 | Waardenburg Syndrome | 10.3% |
| 46 | Ectodermal Dysplasia | 10.1% |
| 47 | Aplasia Cutis Congenita | 10.1% |
| 48 | Eye Abnormalities | 10% |
| 49 | Neoplastic Syndromes, Hereditary | 10% |
| 50 | Prader-Willi Syndrome | 10% |
| 51 | Cardiovascular Abnormalities | 10% |
| 52 | Nail-Patella Syndrome | 9.7% |
| 53 | Rubinstein-Taybi Syndrome | 9.5% |
| 54 | Skin Abnormalities | 9.5% |
| 55 | Lymphatic Abnormalities | 9.5% |
| 56 | Congenital Microtia | 9.5% |
| 57 | Multiple Epiphyseal Dysplasia | 9.3% |
| 58 | Osteochondrodysplasias | 9.3% |
| 59 | Pelger-Huet Anomaly | 9.3% |
| 60 | Werner Syndrome | 9.3% |
| 61 | Myasthenic Syndromes, Congenital | 9.3% |
| 62 | Anencephaly | 9.2% |
| 63 | Congenital diaphragmatic hernia | 9.2% |
| 64 | Kernicterus | 8.7% |
| 65 | Cockayne Syndrome | 8.6% |
| 66 | Alstrom Syndrome | 8.5% |
| 67 | Kartagener Syndrome | 8.5% |
| 68 | Rett Syndrome | 8.2% |
| 69 | Marfan Syndrome | 8.1% |
| 70 | Primary Ciliary Dyskinesia | 8% |
| 71 | Anemia, Sickle Cell | 8% |
| 72 | Thalassemia | 8% |
| 73 | Muscular Dystrophy, Duchenne | 8% |
| 74 | Polycystic Kidney Diseases | 8% |
| 75 | Williams Syndrome | 8% |
| 76 | Smith-Lemli-Opitz Syndrome | 7.5% |
| 77 | Maxillofacial Abnormalities | 7.5% |
| 78 | Dural Arteriovenous Fistula | 7.5% |
| 79 | Classical Lissencephalies and Subcortical Band Heterotopias | 7.4% |
| 80 | Urogenital Abnormalities | 7.4% |
| 81 | Dextrocardia | 7.4% |
| 82 | Dwarfism | 7.3% |
| 83 | Albinism | 7.1% |
| 84 | Anophthalmos | 7% |
| 85 | Anus, Imperforate | 7% |
| 86 | Hydranencephaly | 7% |
| 87 | Microphthalmos | 7% |
| 88 | Neural Tube Defects | 7% |
| 89 | Retinal Dysplasia | 7% |
| 90 | Tethered Cord Syndrome | 7% |
| 91 | Iniencephaly | 7% |
| 92 | Craniorachischisis | 7% |
| 93 | Limb Deformities, Congenital | 7% |
| 94 | Exencephaly | 7% |
| 95 | Septo-Optic Dysplasia | 7% |
| 96 | Craniofacial Abnormalities | 7% |
| 97 | Cortical Dysplasia | 7% |
| 98 | Malformations of Cortical Development | 7% |
| 99 | Anorectal Malformations | 7% |
| 100 | Aniridia | 6.9% |
| 101 | Fetal Growth Retardation | 6.9% |
| 102 | Muscular Dystrophy | 6.8% |
| 103 | Osteogenesis Imperfecta | 6.8% |
| 104 | Fetal Hypoxia | 6.8% |
| 105 | Fetal Alcohol Spectrum Disorders | 6.8% |
| 106 | Mucopolysaccharidosis II | 6.8% |
| 107 | Amino Acid Metabolism, Inborn Errors | 6.8% |
| 108 | Bloom Syndrome | 6.8% |
| 109 | Carbohydrate Metabolism, Inborn Errors | 6.8% |
| 110 | Metal Metabolism, Inborn Errors | 6.8% |
| 111 | Progeria | 6.8% |
| 112 | Lysosomal Storage Diseases | 6.8% |
| 113 | Cytochrome-c Oxidase Deficiency | 6.8% |
| 114 | Peroxisomal Disorders | 6.8% |
| 115 | Epidermolysis Bullosa | 6.7% |
| 116 | Sickle Cell Trait | 6.5% |
| 117 | Polycystic Kidney, Autosomal Dominant | 6.5% |
| 118 | Microcephaly | 6.3% |
| 119 | Macrocephaly | 6.3% |
| 120 | Kallmann Syndrome | 5.9% |
| 121 | Menkes Kinky Hair Syndrome | 5.9% |
| 122 | Porencephaly | 5.9% |
| 123 | Neuronal Ceroid-Lipofuscinoses | 5.8% |
| 124 | Wiskott-Aldrich Syndrome | 5.7% |
| 125 | Tuberous Sclerosis | 5.6% |
| 126 | Amelia | 5.6% |
| 127 | Arachnodactyly | 5.6% |
| 128 | Ectopia Cordis | 5.6% |
| 129 | Ectromelia | 5.6% |
| 130 | Hemimelia | 5.6% |
| 131 | Meningomyelocele | 5.6% |
| 132 | Phocomelia | 5.6% |
| 133 | Sirenomelia | 5.6% |
| 134 | Spina Bifida | 5.6% |
| 135 | Polydactyly | 5.6% |
| 136 | Brachydactyly | 5.6% |
| 137 | Plagiocephaly | 5.6% |
| 138 | Lower Extremity Deformities, Congenital | 5.6% |
| 139 | Upper Extremity Deformities, Congenital | 5.6% |
| 140 | Single umbilical artery | 5.6% |
| 141 | Alkaptonuria | 5.6% |
| 142 | Glycogen Storage Disease | 5.6% |
| 143 | Hypophosphatasia | 5.6% |
| 144 | Propionic acidemia | 5.6% |
| 145 | Autoimmune Lymphoproliferative Syndrome | 5.6% |
| 146 | Dihydropyrimidine Dehydrogenase Deficiency | 5.6% |
| 147 | Cystinosis | 5.6% |
| 148 | Craniosynostosis | 5.5% |
| 149 | Syndactyly | 5.5% |
| 150 | Brachycephaly | 5.5% |
| 151 | Klinefelter Syndrome | 5.5% |
| 152 | Charcot-Marie-Tooth Disease | 5.5% |
| 153 | Antley-Bixler Syndrome Phenotype | 5.5% |
| 154 | Chorioamnionitis | 5.4% |
| 155 | Refsum Disease | 5.4% |
| 156 | Scimitar Syndrome | 5.4% |
| 157 | Angioedemas, Hereditary | 5.4% |
| 158 | Turner Syndrome | 5.3% |
| 159 | Acrocephalosyndactylia | 5.3% |
| 160 | Blepharophimosis | 5.3% |
| 161 | Laryngostenosis | 5.3% |
| 162 | Mouth Abnormalities | 5.3% |
| 163 | Cutis Laxa | 5.2% |
| 164 | Esophageal Atresia | 5.2% |
| 165 | Intestinal Atresia | 5.2% |
| 166 | Horseshoe Kidney | 5.2% |
| 167 | Pectus excavatum | 5.2% |
| 168 | Klippel-Feil Syndrome | 5.1% |
| 169 | Retinitis Pigmentosa | 5.1% |
| 170 | Gastroschisis | 5.1% |
| 171 | Synostosis | 5.1% |
| 172 | Pigmentary retinopathy | 5.1% |
| 173 | Acrodermatitis | 5.1% |
| 174 | Lymphangiectasis, Intestinal | 5.1% |
| 175 | Porokeratosis | 5.1% |
| 176 | Gianotti-Crosti Syndrome | 5.1% |
| 177 | Keratoderma, Palmoplantar | 5.1% |
| 178 | Pseudoxanthoma Elasticum | 5.1% |
| 179 | Chronic granulomatous disease | 5% |
| 180 | Welander Distal Myopathy | 5% |
| 181 | Dermal Sinus | 5% |
| 182 | Spina Bifida Cystica | 5% |
| 183 | Spina Bifida Occulta | 5% |
| 184 | Lissencephaly | 5% |
| 185 | Polymicrogyria | 5% |
| 186 | Pachygyria | 5% |
| 187 | Schizencephaly | 5% |
| 188 | Periventricular Nodular Heterotopia | 5% |
| 189 | Myotonic Dystrophy | 5% |
| 190 | Glycogen Storage Disease Type I | 4.9% |
| 191 | Glycogen Storage Disease Type V | 4.9% |
| 192 | Poland Syndrome | 4.9% |
| 193 | Mucopolysaccharidosis III | 4.9% |
| 194 | Glycogen storage disease type II | 4.8% |
| 195 | Noonan Syndrome | 4.8% |
| 196 | Zellweger Syndrome | 4.8% |
| 197 | Acute Chest Syndrome | 4.8% |
| 198 | Galactosemias | 4.7% |
| 199 | Urea Cycle Disorders, Inborn | 4.7% |
| 200 | Tyrosinemias | 4.7% |
| 201 | Adrenoleukodystrophy | 4.7% |
| 202 | Fabry Disease | 4.6% |
| 203 | Jaw Abnormalities | 4.6% |
| 204 | Cleft Palate | 4.5% |
| 205 | Xeroderma Pigmentosum | 4.5% |
| 206 | Amyloid Neuropathies, Familial | 4.5% |
| 207 | Abnormalities, Radiation-Induced | 4.5% |
| 208 | Hepatolenticular Degeneration | 4.4% |
| 209 | Hydrops Fetalis | 4.4% |
| 210 | Arthrogryposis | 4.2% |
| 211 | Choanal Atresia | 4.2% |
| 212 | Tracheobronchomegaly | 4.2% |
| 213 | Laryngocele | 4.2% |
| 214 | Aortic coarctation | 4.2% |
| 215 | Cor Triatriatum | 4.2% |
| 216 | Coronary Vessel Anomalies | 4.2% |
| 217 | Dental Enamel Hypoplasia | 4.2% |
| 218 | Patent ductus arteriosus | 4.2% |
| 219 | Ebstein Anomaly | 4.2% |
| 220 | Heart Septal Defects | 4.2% |
| 221 | Hypodontia | 4.2% |
| 222 | Macrostomia | 4.2% |
| 223 | Meningocele | 4.2% |
| 224 | Microstomia | 4.2% |
| 225 | Tetralogy of Fallot | 4.2% |
| 226 | Transposition of Great Vessels | 4.2% |
| 227 | Hypoplastic Left Heart Syndrome | 4.2% |
| 228 | May-Thurner Syndrome | 4.2% |
| 229 | Encephalocele | 4.2% |
| 230 | Choledochal Cyst | 4.2% |
| 231 | Craniofacial Dysostosis | 4.2% |
| 232 | Duane Retraction Syndrome | 4.2% |
| 233 | Hermaphroditism | 4.2% |
| 234 | Disorders of Sex Development | 4.2% |
| 235 | Hypolipoproteinemias | 4.1% |
| 236 | Papillon-Lefevre Disease | 4.1% |
| 237 | Wolff-Parkinson-White Syndrome | 4.1% |
| 238 | Hyperlipidemia, Familial Combined | 4.1% |
| 239 | Cryptorchidism | 4.1% |
| 240 | Porphyrias, Hepatic | 4.1% |
| 241 | Hypospadias | 4.1% |
| 242 | Hyperlipoproteinemia Type III | 4.1% |
| 243 | Optic Atrophy, Hereditary, Leber | 4.1% |
| 244 | Micrognathism | 4.1% |
| 245 | Pierre Robin Syndrome | 4.1% |
| 246 | Central Nervous System Cysts | 4.1% |
| 247 | Hyperphosphaturia | 4.1% |
| 248 | Gaucher Disease | 4.1% |
| 249 | Dandy-Walker Syndrome | 4.1% |
| 250 | Peutz-Jeghers Syndrome | 4% |
| 251 | Myotonia Congenita | 4% |
| 252 | Thrombasthenia | 4% |
| 253 | Antithrombin III Deficiency | 4% |
| 254 | Protein C Deficiency | 4% |
| 255 | Brain Diseases, Metabolic, Inborn | 4% |
| 256 | Afibrinogenemia | 4% |
| 257 | Dystonia Musculorum Deformans | 4% |
| 258 | Factor VII Deficiency | 4% |
| 259 | Factor X Deficiency | 4% |
| 260 | Factor XII Deficiency | 4% |
| 261 | Hemophilia A | 4% |
| 262 | POEMS Syndrome | 4% |
| 263 | Activated Protein C Resistance | 4% |
| 264 | Factor II deficiency | 4% |
| 265 | Factor VIII Deficiency | 4% |
| 266 | Factor V deficiency | 4% |
| 267 | Factor XI Deficiency | 4% |
| 268 | Hypoprothrombinemias | 4% |
| 269 | Fanconi Anemia | 4% |
| 270 | Basal Cell Nevus Syndrome | 4% |
| 271 | Lafora Disease | 4% |
| 272 | Unverricht-Lundborg Syndrome | 4% |
| 273 | Anemia, Diamond-Blackfan | 3.9% |
| 274 | Homocystinuria | 3.9% |
| 275 | Leigh Disease | 3.9% |
| 276 | Tay-Sachs Disease | 3.9% |
| 277 | Canavan Disease | 3.8% |
| 278 | Alexander Disease | 3.8% |
| 279 | Aortopulmonary Septal Defect | 3.7% |
| 280 | Double Outlet Right Ventricle | 3.7% |
| 281 | Endocardial Cushion Defects | 3.7% |
| 282 | Myocardial bridging | 3.7% |
| 283 | Aorticopulmonary Septal Defect | 3.7% |
| 284 | Hypoalphalipoproteinemias | 3.7% |
| 285 | Carbamoyl-Phosphate Synthase I Deficiency Disease | 3.6% |
| 286 | Retrognathia | 3.6% |
| 287 | Niemann-Pick Disease, Type C | 3.6% |
| 288 | Multiple Endocrine Neoplasia | 3.5% |
| 289 | Laryngomalacia | 3.5% |
| 290 | Truncus Arteriosus, Persistent | 3.5% |
| 291 | Goldenhar Syndrome | 3.5% |
| 292 | Pectus carinatum | 3.4% |
| 293 | Ataxia Telangiectasia | 3.4% |
| 294 | Bladder Exstrophy | 3.4% |
| 295 | Congenital Hypothyroidism | 3.4% |
| 296 | Epispadias | 3.4% |
| 297 | Familial Periodic Paralysis | 3.4% |
| 298 | Dermatitis, Atopic | 3.4% |
| 299 | Multicystic Dysplastic Kidney | 3.4% |
| 300 | Long QT Syndrome | 3.4% |
| 301 | Platybasia | 3.4% |
| 302 | Tricuspid Atresia | 3.4% |
| 303 | Arrhythmogenic Right Ventricular Dysplasia | 3.4% |
| 304 | Gonadal Dysgenesis | 3.3% |
| 305 | Bronchomalacia | 3.3% |
| 306 | Adrenogenital Syndrome | 3.3% |
| 307 | Tracheomalacia | 3.3% |
| 308 | Ovotesticular Disorders of Sex Development | 3.3% |
| 309 | Lactose Intolerance | 3.3% |
| 310 | Variegate Porphyria | 3.3% |
| 311 | Acute intermittent porphyria | 3.3% |
| 312 | Porphyria Cutanea Tarda | 3.3% |
| 313 | Hyperhomocysteinemia | 3.3% |
| 314 | Renal Aminoacidurias | 3.3% |
| 315 | Fanconi Syndrome | 3.3% |
| 316 | Pseudohypoaldosteronism | 3.3% |
| 317 | Liddle Syndrome | 3.3% |
| 318 | Hyperlipoproteinemia Type IV | 3.3% |
| 319 | Hyperlipoproteinemia Type V | 3.3% |
| 320 | Hyperandrogenism | 3.2% |
| 321 | Prognathism | 3.2% |
| 322 | Hypokalemic periodic paralysis | 3% |
| 323 | Mandibulofacial Dysostosis | 3% |
| 324 | Romano-Ward Syndrome | 3% |
| 325 | Cystinuria | 2.9% |
| 326 | Behcet Syndrome | 2.9% |
| 327 | Talipes | 2.8% |
| 328 | Gout | 2.8% |
| 329 | Multiple Endocrine Neoplasia Type 1 | 2.8% |
| 330 | Pseudohypoparathyroidism | 2.8% |
| 331 | Friedreich Ataxia | 2.7% |
| 332 | Renal tubular acidosis | 2.7% |
| 333 | Congenital clubfoot | 2.7% |
| 334 | Vertical Talus | 2.7% |
| 335 | Huntington Disease | 2.5% |
| 336 | Arthritis, Gouty | 2.5% |
| 337 | Denys-Drash Syndrome | 2.4% |
| 338 | Familial Hypophosphatemic Rickets | 2.2% |
| 339 | Nephroblastoma | 2.2% |
| 340 | Arteriovenous fistula | 2.1% |
| 341 | Glycosuria, Renal | 2% |
| 342 | Adenomatous Polyposis Coli | 2% |
| 343 | MELAS Syndrome | 1.6% |
