| 1 | Smith-Lemli-Opitz Syndrome | 37.4% |
| 2 | Hyperlipidemia, Familial Combined | 35.9% |
| 3 | Hyperlipoproteinemia Type IV | 34.8% |
| 4 | Hyperlipoproteinemia Type V | 34.8% |
| 5 | Hyperlipoproteinemia Type III | 33.5% |
| 6 | Amino Acid Metabolism, Inborn Errors | 27.5% |
| 7 | Carbohydrate Metabolism, Inborn Errors | 27.5% |
| 8 | Metal Metabolism, Inborn Errors | 27.5% |
| 9 | Progeria | 27.5% |
| 10 | Lysosomal Storage Diseases | 27.5% |
| 11 | Peroxisomal Disorders | 27.5% |
| 12 | Brain Diseases, Metabolic, Inborn | 26.7% |
| 13 | Wasting Syndrome | 23.9% |
| 14 | Pseudohypoparathyroidism | 22.5% |
| 15 | Neuronal Ceroid-Lipofuscinoses | 22.3% |
| 16 | Acid-Base Imbalance | 22% |
| 17 | Calcium Metabolism Disorders | 22% |
| 18 | Iron Metabolism Disorders | 22% |
| 19 | Phosphorus Metabolism Disorders | 22% |
| 20 | Water-Electrolyte Imbalance | 22% |
| 21 | Mitochondrial Diseases | 22% |
| 22 | Glucose Metabolism Disorders | 22% |
| 23 | Lipodystrophy | 21.7% |
| 24 | Galactosemias | 21.4% |
| 25 | Urea Cycle Disorders, Inborn | 21.4% |
| 26 | Tyrosinemias | 21.4% |
| 27 | Leigh Disease | 21.3% |
| 28 | Cytochrome-c Oxidase Deficiency | 21% |
| 29 | Xanthomatosis | 20.1% |
| 30 | Xanthoma | 20.1% |
| 31 | Hypercalcemia | 19.4% |
| 32 | Hypocalcemia | 19.4% |
| 33 | Milk-Alkali Syndrome | 19.4% |
| 34 | Hyperhomocysteinemia | 19.2% |
| 35 | Hyperphosphaturia | 19.2% |
| 36 | Werner Syndrome | 18.7% |
| 37 | Lactose Intolerance | 18.6% |
| 38 | Osteopenia | 17.9% |
| 39 | Brain Diseases, Metabolic | 17.7% |
| 40 | Carbamoyl-Phosphate Synthase I Deficiency Disease | 17.5% |
| 41 | Menkes Kinky Hair Syndrome | 17.1% |
| 42 | Gaucher Disease | 17% |
| 43 | Homocystinuria | 16.6% |
| 44 | Glycogen storage disease type II | 16.4% |
| 45 | Lipomatosis | 16.4% |
| 46 | Alkaptonuria | 16.3% |
| 47 | Glycogen Storage Disease | 16.3% |
| 48 | Hypophosphatasia | 16.3% |
| 49 | Propionic acidemia | 16.3% |
| 50 | Dihydropyrimidine Dehydrogenase Deficiency | 16.3% |
| 51 | Cystinosis | 16.3% |
| 52 | Sjogren-Larsson Syndrome | 16% |
| 53 | Hepatolenticular Degeneration | 15.7% |
| 54 | Zellweger Syndrome | 15.6% |
| 55 | Adrenoleukodystrophy | 15.5% |
| 56 | Fabry Disease | 15.3% |
| 57 | Refsum Disease | 15.2% |
| 58 | Rickets | 14.6% |
| 59 | Amyloid Neuropathies, Familial | 14.5% |
| 60 | Nutrition Disorders | 14.3% |
| 61 | Hypercholesterolemia | 14.3% |
| 62 | Hyperlipoproteinemias | 14.3% |
| 63 | Hypertriglyceridemia | 14.3% |
| 64 | Renal tubular acidosis | 13.8% |
| 65 | Mucopolysaccharidosis III | 13.5% |
| 66 | Albinism | 13.3% |
| 67 | Niemann-Pick Disease, Type C | 12.9% |
| 68 | Familial Hypophosphatemic Rickets | 12.5% |
| 69 | Mucopolysaccharidosis II | 12.5% |
| 70 | Tay-Sachs Disease | 12.4% |
| 71 | Acidosis | 12% |
| 72 | Alkalosis | 12% |
| 73 | Amyloidosis | 12% |
| 74 | Calcinosis | 12% |
| 75 | Hyperglycemia | 12% |
| 76 | Hyperinsulinism | 12% |
| 77 | Hyperkalemia | 12% |
| 78 | Hypernatremia | 12% |
| 79 | Hypoglycemia | 12% |
| 80 | Hypokalemia | 12% |
| 81 | Hyponatremia | 12% |
| 82 | Hypophosphatemia | 12% |
| 83 | Metabolic acidosis | 12% |
| 84 | Iron Overload | 12% |
| 85 | Ichthyosis, X-Linked | 12% |
| 86 | Familial Periodic Paralysis | 11.9% |
| 87 | Cockayne Syndrome | 11.8% |
| 88 | Renal Aminoacidurias | 11.6% |
| 89 | Fanconi Syndrome | 11.6% |
| 90 | Pseudohypoaldosteronism | 11.6% |
| 91 | Liddle Syndrome | 11.6% |
| 92 | Bloom Syndrome | 11.3% |
| 93 | Glycosuria, Renal | 11% |
| 94 | Lipid Metabolism Disorders | 11% |
| 95 | Antley-Bixler Syndrome Phenotype | 10.8% |
| 96 | Glycogen Storage Disease Type I | 10.8% |
| 97 | Glycogen Storage Disease Type V | 10.8% |
| 98 | MELAS Syndrome | 10.8% |
| 99 | Porphyrias, Hepatic | 10.6% |
| 100 | Congenital Hyperinsulinism | 10.6% |
| 101 | Gout | 10.4% |
| 102 | Fanconi Anemia | 10.3% |
| 103 | Diabetes Mellitus | 10.1% |
| 104 | Dehydration | 9.8% |
| 105 | Water Intoxication | 9.8% |
| 106 | Achlorhydria | 9.7% |
| 107 | Osteoporosis | 9.7% |
| 108 | Bone Demineralization, Pathologic | 9.7% |
| 109 | Post-Traumatic Osteoporosis | 9.7% |
| 110 | Mitochondrial Encephalomyopathies | 9.7% |
| 111 | Adiposis Dolorosa | 9.6% |
| 112 | Celiac Disease | 9.6% |
| 113 | Sprue, Tropical | 9.6% |
| 114 | Steatorrhea | 9.6% |
| 115 | Sprue | 9.6% |
| 116 | Ataxia Telangiectasia | 9.4% |
| 117 | Neoplastic Syndromes, Hereditary | 9.2% |
| 118 | Canavan Disease | 8.9% |
| 119 | Alexander Disease | 8.9% |
| 120 | Multiple Epiphyseal Dysplasia | 8.9% |
| 121 | Osteochondrodysplasias | 8.9% |
| 122 | Pelger-Huet Anomaly | 8.9% |
| 123 | Myasthenic Syndromes, Congenital | 8.9% |
| 124 | Osteomalacia | 8.8% |
| 125 | CHARGE Syndrome | 8.8% |
| 126 | Cystic Fibrosis | 8.7% |
| 127 | HIV-Associated Lipodystrophy Syndrome | 8.6% |
| 128 | Mitochondrial Myopathies | 8.2% |
| 129 | Myelinolysis, Central Pontine | 8.2% |
| 130 | HIV Wasting Syndrome | 8.1% |
| 131 | Glycosuria | 8.1% |
| 132 | Reye Syndrome | 8.1% |
| 133 | Hepatic Encephalopathy | 8% |
| 134 | Diabetic Ketoacidosis | 8% |
| 135 | Friedreich Ataxia | 7.8% |
| 136 | Hypokalemic periodic paralysis | 7.8% |
| 137 | Optic Atrophy, Hereditary, Leber | 7.7% |
| 138 | Aicardi's syndrome | 7.7% |
| 139 | Cystinuria | 7.7% |
| 140 | Dwarfism | 7.6% |
| 141 | Nail-Patella Syndrome | 7.6% |
| 142 | Xeroderma Pigmentosum | 7.5% |
| 143 | Muscular Dystrophy | 7.4% |
| 144 | Osteogenesis Imperfecta | 7.4% |
| 145 | Child Nutrition Disorders | 7.3% |
| 146 | Hypervitaminosis A | 7.3% |
| 147 | Infant Nutrition Disorders | 7.3% |
| 148 | Malnutrition | 7.3% |
| 149 | Deformity | 7.2% |
| 150 | Acidosis, Lactic | 7.2% |
| 151 | Calciphylaxis | 7.2% |
| 152 | Hemosiderosis | 7.2% |
| 153 | Ketosis | 7.2% |
| 154 | Ketonuria | 7.2% |
| 155 | Ketoacidosis | 7.2% |
| 156 | Ketonemia | 7.2% |
| 157 | Vascular calcification | 7.2% |
| 158 | Necrobiosis Lipoidica Diabeticorum | 7% |
| 159 | Anemia, Sickle Cell | 6.9% |
| 160 | Thalassemia | 6.9% |
| 161 | Muscular Dystrophy, Duchenne | 6.9% |
| 162 | Arthritis, Gouty | 6.8% |
| 163 | Beckwith-Wiedemann Syndrome | 6.8% |
| 164 | Wolf-Hirschhorn Syndrome | 6.8% |
| 165 | Nesidioblastosis | 6.7% |
| 166 | Wernicke Encephalopathy | 6.6% |
| 167 | Autoimmune Lymphoproliferative Syndrome | 6.4% |
| 168 | Kernicterus | 6.4% |
| 169 | Prader-Willi Syndrome | 6.3% |
| 170 | Angioedemas, Hereditary | 6.3% |
| 171 | Variegate Porphyria | 6.2% |
| 172 | Acute intermittent porphyria | 6.2% |
| 173 | Porphyria Cutanea Tarda | 6.2% |
| 174 | Renal Osteodystrophy | 6.2% |
| 175 | Renal rickets | 6.2% |
| 176 | Familial Mediterranean Fever | 6% |
| 177 | Dyslipidemias | 6% |
| 178 | Fragile X Syndrome | 6% |
| 179 | Smith-Magenis syndrome | 5.9% |
| 180 | Marfan Syndrome | 5.8% |
| 181 | Fetal Diseases | 5.8% |
| 182 | Cri-du-Chat Syndrome | 5.8% |
| 183 | Down Syndrome | 5.8% |
| 184 | Trisomy 21 | 5.8% |
| 185 | Acidosis, Respiratory | 5.8% |
| 186 | Alkalosis, Respiratory | 5.8% |
| 187 | Insulin Resistance | 5.8% |
| 188 | Osteoporosis, Postmenopausal | 5.8% |
| 189 | Wiskott-Aldrich Syndrome | 5.4% |
| 190 | Kartagener Syndrome | 5.3% |
| 191 | Alstrom Syndrome | 5.3% |
| 192 | Kallmann Syndrome | 5.2% |
| 193 | Kearns-Sayre syndrome | 5.2% |
| 194 | Ectodermal Dysplasia | 5.1% |
| 195 | Aplasia Cutis Congenita | 5.1% |
| 196 | Holoprosencephaly | 5.1% |
| 197 | Gestational Diabetes | 5% |
| 198 | Latent Autoimmune Diabetes in Adults | 5% |
| 199 | Diabetes Mellitus, Experimental | 4.9% |
| 200 | Myotonic Dystrophy | 4.9% |
| 201 | Nephrocalcinosis | 4.8% |
| 202 | Tetany | 4.8% |
| 203 | Hypolipoproteinemias | 4.8% |
| 204 | Rett Syndrome | 4.8% |
| 205 | Cerebral Amyloid Angiopathy | 4.8% |
| 206 | Polycystic Kidney Diseases | 4.6% |
| 207 | Williams Syndrome | 4.6% |
| 208 | Rubinstein-Taybi Syndrome | 4.6% |
| 209 | Tuberous Sclerosis | 4.5% |
| 210 | Primary Ciliary Dyskinesia | 4.4% |
| 211 | Retinal Dysplasia | 4.2% |
| 212 | Primary amyloidosis | 4.2% |
| 213 | Aniridia | 4.2% |
| 214 | Cutis Laxa | 4.1% |
| 215 | Sickle Cell Trait | 4.1% |
| 216 | Epidermolysis Bullosa | 4.1% |
| 217 | Retinitis Pigmentosa | 4.1% |
| 218 | Pigmentary retinopathy | 4.1% |
| 219 | Porokeratosis | 4.1% |
| 220 | Keratoderma, Palmoplantar | 4.1% |
| 221 | Chronic granulomatous disease | 4% |
| 222 | Deficiency Diseases | 4% |
| 223 | Starvation | 4% |
| 224 | Refeeding Syndrome | 4% |
| 225 | Welander Distal Myopathy | 4% |
| 226 | Meconium Aspiration Syndrome | 3.8% |
| 227 | Abdominal Cramps | 3.7% |
| 228 | Abnormalities, Drug-Induced | 3.7% |
| 229 | Amniotic Band Syndrome | 3.7% |
| 230 | Asphyxia Neonatorum | 3.7% |
| 231 | Infant, Premature, Diseases | 3.7% |
| 232 | Situs Inversus | 3.7% |
| 233 | Infantile Colic | 3.7% |
| 234 | Amyotrophic Lateral Sclerosis | 3.7% |
| 235 | Duane Retraction Syndrome | 3.6% |
| 236 | Peutz-Jeghers Syndrome | 3.5% |
| 237 | Myotonia Congenita | 3.5% |
| 238 | Thrombasthenia | 3.5% |
| 239 | Antithrombin III Deficiency | 3.5% |
| 240 | Protein C Deficiency | 3.5% |
| 241 | Afibrinogenemia | 3.5% |
| 242 | Dystonia Musculorum Deformans | 3.5% |
| 243 | Factor VII Deficiency | 3.5% |
| 244 | Factor X Deficiency | 3.5% |
| 245 | Factor XII Deficiency | 3.5% |
| 246 | Hemophilia A | 3.5% |
| 247 | Activated Protein C Resistance | 3.5% |
| 248 | Factor II deficiency | 3.5% |
| 249 | Factor VIII Deficiency | 3.5% |
| 250 | Factor V deficiency | 3.5% |
| 251 | Factor XI Deficiency | 3.5% |
| 252 | Hypoprothrombinemias | 3.5% |
| 253 | Lafora Disease | 3.4% |
| 254 | Unverricht-Lundborg Syndrome | 3.4% |
| 255 | Anemia, Diamond-Blackfan | 3.4% |
| 256 | Pseudoxanthoma Elasticum | 3.3% |
| 257 | Xeroderma | 3.3% |
| 258 | Mobius Syndrome | 3.3% |
| 259 | Acute Chest Syndrome | 3.3% |
| 260 | CREST Syndrome | 3.2% |
| 261 | Hypoalphalipoproteinemias | 3.2% |
| 262 | Multiple Endocrine Neoplasia | 3.1% |
| 263 | Congenital Hypothyroidism | 3.1% |
| 264 | Eye Abnormalities | 3.1% |
| 265 | Cardiovascular Abnormalities | 3.1% |
| 266 | Dermatitis, Atopic | 3.1% |
| 267 | Skin Abnormalities | 3% |
| 268 | Lymphatic Abnormalities | 3% |
| 269 | Congenital Microtia | 3% |
| 270 | Anemia, Neonatal | 3% |
| 271 | Persistent Fetal Circulation Syndrome | 3% |
| 272 | Congenital diaphragmatic hernia | 2.9% |
| 273 | Umbilical hernia | 2.9% |
| 274 | Frontotemporal dementia | 2.7% |
| 275 | Polycystic Kidney, Autosomal Dominant | 2.7% |
| 276 | Behcet Syndrome | 2.7% |
| 277 | Basal Cell Nevus Syndrome | 2.7% |
| 278 | Urogenital Abnormalities | 2.6% |
| 279 | Neonatal Abstinence Syndrome | 2.5% |
| 280 | Classical Lissencephalies and Subcortical Band Heterotopias | 2.5% |
| 281 | Hyperkeratosis, Epidermolytic | 2.5% |
| 282 | Fetal Growth Retardation | 2.5% |
| 283 | Fetal Hypoxia | 2.5% |
| 284 | Congenital nystagmus | 2.5% |
| 285 | Fetal Alcohol Spectrum Disorders | 2.5% |
| 286 | Huntington Disease | 2.4% |
| 287 | Toxoplasmosis, Congenital | 2.4% |
| 288 | Syphilis, Congenital | 2.4% |
| 289 | Charcot-Marie-Tooth Disease | 2.4% |
| 290 | Papillon-Lefevre Disease | 2.4% |
| 291 | Kwashiorkor | 2.4% |
| 292 | Magnesium Deficiency | 2.4% |
| 293 | Potassium Deficiency | 2.4% |
| 294 | Protein Deficiency | 2.4% |
| 295 | Avitaminosis | 2.4% |
| 296 | Obesity | 2.3% |
| 297 | Nephroblastoma | 2.2% |
| 298 | Anencephaly | 2.2% |
| 299 | Chorioamnionitis | 2.1% |
| 300 | Adenomatous Polyposis Coli | 2% |
| 301 | Prune Belly Syndrome | 2% |
| 302 | Twins, Conjoined | 2% |
| 303 | Waardenburg Syndrome | 2% |
| 304 | Maxillofacial Abnormalities | 1.9% |
| 305 | Dural Arteriovenous Fistula | 1.9% |
| 306 | Dextrocardia | 1.9% |
| 307 | Abnormalities, Radiation-Induced | 1.8% |
| 308 | Multiple Endocrine Neoplasia Type 1 | 1.8% |
| 309 | Hydrops Fetalis | 1.8% |
| 310 | Anophthalmos | 1.6% |
| 311 | Anus, Imperforate | 1.6% |
| 312 | Hydranencephaly | 1.6% |
| 313 | Microphthalmos | 1.6% |
| 314 | Neural Tube Defects | 1.6% |
| 315 | Paralysis, Obstetric | 1.6% |
| 316 | Retinopathy of Prematurity | 1.6% |
| 317 | Tethered Cord Syndrome | 1.6% |
| 318 | Iniencephaly | 1.6% |
| 319 | Craniorachischisis | 1.6% |
| 320 | Limb Deformities, Congenital | 1.6% |
| 321 | Exencephaly | 1.6% |
| 322 | Septo-Optic Dysplasia | 1.6% |
| 323 | Craniofacial Abnormalities | 1.6% |
| 324 | Cortical Dysplasia | 1.6% |
| 325 | Malformations of Cortical Development | 1.6% |
| 326 | Anorectal Malformations | 1.6% |
| 327 | Ophthalmia Neonatorum | 1.6% |
| 328 | Bronchopulmonary Dysplasia | 1.6% |
| 329 | Klinefelter Syndrome | 1.6% |
| 330 | Ascorbic Acid Deficiency | 1.6% |
| 331 | Vitamin A Deficiency | 1.6% |
| 332 | Vitamin D Deficiency | 1.6% |
| 333 | Vitamin E Deficiency | 1.6% |
| 334 | Marasmus | 1.6% |
| 335 | Obesity, Abdominal | 1.6% |
| 336 | Turner Syndrome | 1.5% |
| 337 | Scimitar Syndrome | 1.5% |
| 338 | Blepharophimosis | 1.4% |
| 339 | Laryngostenosis | 1.4% |
| 340 | Mouth Abnormalities | 1.4% |
| 341 | Respiratory Distress Syndrome, Newborn | 1.4% |
| 342 | Esophageal Atresia | 1.4% |
| 343 | Intestinal Atresia | 1.4% |
| 344 | Horseshoe Kidney | 1.4% |
| 345 | Pectus excavatum | 1.4% |
| 346 | Klippel-Feil Syndrome | 1.4% |
| 347 | Gastroschisis | 1.4% |
| 348 | Synostosis | 1.4% |
| 349 | Pediatric Obesity | 1.4% |
| 350 | Acrodermatitis | 1.4% |
| 351 | Lymphangiectasis, Intestinal | 1.4% |
| 352 | Gianotti-Crosti Syndrome | 1.4% |
| 353 | Craniosynostosis | 1.2% |
| 354 | Syndactyly | 1.2% |
| 355 | Brachycephaly | 1.2% |
| 356 | Arthrogryposis | 1.2% |
| 357 | Choanal Atresia | 1.2% |
| 358 | Tracheobronchomegaly | 1.2% |
| 359 | Laryngocele | 1.2% |
| 360 | Folic Acid Deficiency | 1.2% |
| 361 | Pellagra | 1.2% |
| 362 | Thiamine Deficiency | 1.2% |
| 363 | Vitamin B 12 Deficiency | 1.2% |
| 364 | Vitamin B 6 Deficiency | 1.2% |
| 365 | Pyridoxine Deficiency | 1.2% |
| 366 | Choledochal Cyst | 1.2% |
| 367 | Hermaphroditism | 1.2% |
| 368 | Disorders of Sex Development | 1.2% |
| 369 | Cryptorchidism | 1.2% |
| 370 | Hypospadias | 1.2% |
| 371 | Central Nervous System Cysts | 1.2% |
| 372 | Denys-Drash Syndrome | 1.2% |
| 373 | Dandy-Walker Syndrome | 1.2% |
| 374 | Leukomalacia, Periventricular | 1.2% |
| 375 | POEMS Syndrome | 1.2% |
| 376 | Microcephaly | 1.1% |
| 377 | Macrocephaly | 1.1% |
| 378 | Noonan Syndrome | 1.1% |
| 379 | Vitamin K Deficiency | 1.1% |
| 380 | Laryngomalacia | 1% |
| 381 | Pectus carinatum | 1% |
| 382 | Bladder Exstrophy | 1% |
| 383 | Epispadias | 1% |
| 384 | Multicystic Dysplastic Kidney | 1% |
| 385 | Beriberi | 1% |
| 386 | Acrocephalosyndactylia | 1% |
| 387 | Amelia | 1% |
| 388 | Arachnodactyly | 1% |
| 389 | Ectopia Cordis | 1% |
| 390 | Ectromelia | 1% |
| 391 | Hemimelia | 1% |
| 392 | Meningomyelocele | 1% |
| 393 | Phocomelia | 1% |
| 394 | Sirenomelia | 1% |
| 395 | Spina Bifida | 1% |
| 396 | Polydactyly | 1% |
| 397 | Brachydactyly | 1% |
| 398 | Plagiocephaly | 1% |
| 399 | Lower Extremity Deformities, Congenital | 1% |
| 400 | Upper Extremity Deformities, Congenital | 1% |
| 401 | Single umbilical artery | 1% |
| 402 | Jaw Abnormalities | 0.9% |
| 403 | Porencephaly | 0.9% |
| 404 | Cleft Palate | 0.9% |
| 405 | Aortic coarctation | 0.8% |
| 406 | Cor Triatriatum | 0.8% |
| 407 | Coronary Vessel Anomalies | 0.8% |
| 408 | Dental Enamel Hypoplasia | 0.8% |
| 409 | Patent ductus arteriosus | 0.8% |
| 410 | Ebstein Anomaly | 0.8% |
| 411 | Heart Septal Defects | 0.8% |
| 412 | Hyaline Membrane Disease | 0.8% |
| 413 | Hypodontia | 0.8% |
| 414 | Macrostomia | 0.8% |
| 415 | Meningocele | 0.8% |
| 416 | Microstomia | 0.8% |
| 417 | Tetralogy of Fallot | 0.8% |
| 418 | Transposition of Great Vessels | 0.8% |
| 419 | Hypoplastic Left Heart Syndrome | 0.8% |
| 420 | May-Thurner Syndrome | 0.8% |
| 421 | Encephalocele | 0.8% |
| 422 | Craniofacial Dysostosis | 0.8% |
| 423 | Scurvy | 0.8% |
| 424 | Wolff-Parkinson-White Syndrome | 0.8% |
| 425 | Poland Syndrome | 0.8% |
| 426 | Anemia, Pernicious | 0.8% |
| 427 | Long QT Syndrome | 0.7% |
| 428 | Platybasia | 0.7% |
| 429 | Tricuspid Atresia | 0.7% |
| 430 | Arrhythmogenic Right Ventricular Dysplasia | 0.7% |
| 431 | Gonadal Dysgenesis | 0.7% |
| 432 | Bronchomalacia | 0.7% |
| 433 | Adrenogenital Syndrome | 0.7% |
| 434 | Tracheomalacia | 0.7% |
| 435 | Ovotesticular Disorders of Sex Development | 0.7% |
| 436 | Dermal Sinus | 0.6% |
| 437 | Spina Bifida Cystica | 0.6% |
| 438 | Spina Bifida Occulta | 0.6% |
| 439 | Lissencephaly | 0.6% |
| 440 | Polymicrogyria | 0.6% |
| 441 | Pachygyria | 0.6% |
| 442 | Schizencephaly | 0.6% |
| 443 | Periventricular Nodular Heterotopia | 0.6% |
| 444 | Micrognathism | 0.6% |
| 445 | Pierre Robin Syndrome | 0.6% |
| 446 | Hyperandrogenism | 0.6% |
| 447 | Retrognathia | 0.6% |
| 448 | Aortopulmonary Septal Defect | 0.5% |
| 449 | Double Outlet Right Ventricle | 0.5% |
| 450 | Endocardial Cushion Defects | 0.5% |
| 451 | Myocardial bridging | 0.5% |
| 452 | Aorticopulmonary Septal Defect | 0.5% |
| 453 | Subacute Combined Degeneration | 0.5% |
| 454 | Prognathism | 0.5% |
| 455 | Mandibulofacial Dysostosis | 0.5% |
| 456 | Romano-Ward Syndrome | 0.5% |
| 457 | Truncus Arteriosus, Persistent | 0.4% |
| 458 | Goldenhar Syndrome | 0.4% |
| 459 | Arteriovenous fistula | 0.4% |
| 460 | Talipes | 0.3% |
| 461 | Congenital clubfoot | 0.3% |
| 462 | Vertical Talus | 0.3% |