| 1 | Anophthalmos | 44.8% |
| 2 | Blepharophimosis | 41.7% |
| 3 | Retinal Dysplasia | 35.6% |
| 4 | Aniridia | 34.3% |
| 5 | Abnormalities, Drug-Induced | 20.9% |
| 6 | Situs Inversus | 20.9% |
| 7 | Beckwith-Wiedemann Syndrome | 18.9% |
| 8 | Wolf-Hirschhorn Syndrome | 18.9% |
| 9 | Aicardi's syndrome | 18.3% |
| 10 | Holoprosencephaly | 17% |
| 11 | CHARGE Syndrome | 16.4% |
| 12 | Cardiovascular Abnormalities | 16.4% |
| 13 | Smith-Magenis syndrome | 15.9% |
| 14 | Skin Abnormalities | 15.8% |
| 15 | Lymphatic Abnormalities | 15.8% |
| 16 | Congenital Microtia | 15.8% |
| 17 | Cri-du-Chat Syndrome | 15.6% |
| 18 | Down Syndrome | 15.6% |
| 19 | Trisomy 21 | 15.6% |
| 20 | Congenital diaphragmatic hernia | 15.4% |
| 21 | Asthenopia | 14.6% |
| 22 | Conjunctival Diseases | 14.6% |
| 23 | Corneal Diseases | 14.6% |
| 24 | Eyelid Diseases | 14.6% |
| 25 | Lacrimal Apparatus Diseases | 14.6% |
| 26 | Lens Diseases | 14.6% |
| 27 | Ocular Hypertension | 14.6% |
| 28 | Ocular Hypotension | 14.6% |
| 29 | Retinal Diseases | 14.6% |
| 30 | Scleral Diseases | 14.6% |
| 31 | Vitreous Detachment | 14.6% |
| 32 | Posterior Vitreous Detachment | 14.6% |
| 33 | Anencephaly | 14.1% |
| 34 | Retinal Degeneration | 14% |
| 35 | Rubinstein-Taybi Syndrome | 13.7% |
| 36 | Prune Belly Syndrome | 13.6% |
| 37 | Twins, Conjoined | 13.6% |
| 38 | Waardenburg Syndrome | 13.6% |
| 39 | Ectodermal Dysplasia | 13.5% |
| 40 | Aplasia Cutis Congenita | 13.5% |
| 41 | Prader-Willi Syndrome | 13.3% |
| 42 | Urogenital Abnormalities | 13% |
| 43 | Genetic Diseases, Inborn | 12.2% |
| 44 | Xerophthalmia | 12.1% |
| 45 | Low Tension Glaucoma | 12.1% |
| 46 | Iridocorneal endothelial syndrome | 12.1% |
| 47 | Maxillofacial Abnormalities | 11.9% |
| 48 | Dural Arteriovenous Fistula | 11.9% |
| 49 | Dextrocardia | 11.7% |
| 50 | Retinitis Pigmentosa | 11.6% |
| 51 | Pigmentary retinopathy | 11.6% |
| 52 | Duane Retraction Syndrome | 11.5% |
| 53 | Uveal Neoplasms | 11.1% |
| 54 | Eyelid Neoplasms | 11% |
| 55 | Retinal Hemorrhage | 11% |
| 56 | Eye Infection | 10.9% |
| 57 | Eye Manifestations | 10.9% |
| 58 | Eye Neoplasms | 10.9% |
| 59 | Optic Neuropathy | 10.9% |
| 60 | Kartagener Syndrome | 10.8% |
| 61 | Keratoconjunctivitis Sicca | 10.7% |
| 62 | Anus, Imperforate | 10.3% |
| 63 | Hydranencephaly | 10.3% |
| 64 | Nail-Patella Syndrome | 10.3% |
| 65 | Neural Tube Defects | 10.3% |
| 66 | Retinopathy of Prematurity | 10.3% |
| 67 | Tethered Cord Syndrome | 10.3% |
| 68 | Iniencephaly | 10.3% |
| 69 | Craniorachischisis | 10.3% |
| 70 | Limb Deformities, Congenital | 10.3% |
| 71 | Exencephaly | 10.3% |
| 72 | Septo-Optic Dysplasia | 10.3% |
| 73 | Craniofacial Abnormalities | 10.3% |
| 74 | Cortical Dysplasia | 10.3% |
| 75 | Malformations of Cortical Development | 10.3% |
| 76 | Anorectal Malformations | 10.3% |
| 77 | Xeroderma | 10.2% |
| 78 | Mobius Syndrome | 10.2% |
| 79 | Marfan Syndrome | 10.2% |
| 80 | Bloom Syndrome | 10.2% |
| 81 | Keratoconjunctivitis | 10.2% |
| 82 | Alstrom Syndrome | 10.2% |
| 83 | Chorioretinitis | 10.1% |
| 84 | Corneal Ulcer | 9.6% |
| 85 | Choroid Hemorrhage | 9.5% |
| 86 | Pars Planitis | 9.4% |
| 87 | Angioid Streaks | 9.3% |
| 88 | Anisometropia | 9.3% |
| 89 | Aphakia | 9.3% |
| 90 | Astigmatism | 9.3% |
| 91 | Blepharitis | 9.3% |
| 92 | Blepharoptosis | 9.3% |
| 93 | Blepharospasm | 9.3% |
| 94 | Choroid Diseases | 9.3% |
| 95 | Conjunctivitis | 9.3% |
| 96 | Corneal edema | 9.3% |
| 97 | Corneal Opacity | 9.3% |
| 98 | Dacryocystitis | 9.3% |
| 99 | Dry Eye Syndromes | 9.3% |
| 100 | Ectropion | 9.3% |
| 101 | Enophthalmos | 9.3% |
| 102 | Entropion | 9.3% |
| 103 | Episcleritis | 9.3% |
| 104 | Exophthalmos | 9.3% |
| 105 | Glaucoma | 9.3% |
| 106 | Iris Diseases | 9.3% |
| 107 | Keratitis | 9.3% |
| 108 | Keratoconus | 9.3% |
| 109 | Lacrimal Duct Obstruction | 9.3% |
| 110 | Lens dislocation | 9.3% |
| 111 | Lens Subluxation | 9.3% |
| 112 | Mydriasis | 9.3% |
| 113 | Myopia | 9.3% |
| 114 | Presbyopia | 9.3% |
| 115 | Pterygium | 9.3% |
| 116 | Retinal Detachment | 9.3% |
| 117 | Retinitis | 9.3% |
| 118 | Scleritis | 9.3% |
| 119 | Uveitis | 9.3% |
| 120 | Corneal Neovascularization | 9.3% |
| 121 | Orbital Pseudotumor | 9.3% |
| 122 | Cataract | 9.3% |
| 123 | Pinguecula | 9.3% |
| 124 | Trichiasis | 9.3% |
| 125 | Fetal Diseases | 9.1% |
| 126 | Microcephaly | 9.1% |
| 127 | Macrocephaly | 9.1% |
| 128 | Corneal Scar | 9% |
| 129 | Scimitar Syndrome | 9% |
| 130 | Polycystic Kidney Diseases | 8.9% |
| 131 | Williams Syndrome | 8.9% |
| 132 | Choroiditis | 8.8% |
| 133 | Iridocyclitis | 8.8% |
| 134 | Iritis | 8.8% |
| 135 | Ocular Motility Disorders | 8.7% |
| 136 | Cyclophoria | 8.7% |
| 137 | Abnormalities, Radiation-Induced | 8.6% |
| 138 | Pupil Disorders | 8.6% |
| 139 | Craniosynostosis | 8.5% |
| 140 | Syndactyly | 8.5% |
| 141 | Brachycephaly | 8.5% |
| 142 | Eye Hemorrhage | 8.5% |
| 143 | Fragile X Syndrome | 8.4% |
| 144 | Vision Disorders | 8.4% |
| 145 | Metamorphopsia | 8.4% |
| 146 | Visual Impairment | 8.4% |
| 147 | Cockayne Syndrome | 8.4% |
| 148 | Eye Injuries | 8.3% |
| 149 | Laryngostenosis | 8.3% |
| 150 | Mouth Abnormalities | 8.3% |
| 151 | Esophageal Atresia | 8.2% |
| 152 | Intestinal Atresia | 8.2% |
| 153 | Horseshoe Kidney | 8.2% |
| 154 | Pectus excavatum | 8.2% |
| 155 | Porencephaly | 8.2% |
| 156 | Klippel-Feil Syndrome | 8.2% |
| 157 | Gastroschisis | 8.2% |
| 158 | Synostosis | 8.2% |
| 159 | Congenital nystagmus | 8.2% |
| 160 | Acrodermatitis | 8.1% |
| 161 | Lymphangiectasis, Intestinal | 8.1% |
| 162 | Gianotti-Crosti Syndrome | 8.1% |
| 163 | Acrocephalosyndactylia | 8.1% |
| 164 | Classical Lissencephalies and Subcortical Band Heterotopias | 8% |
| 165 | Hordeolum | 7.9% |
| 166 | Color blindness | 7.8% |
| 167 | Primary Ciliary Dyskinesia | 7.8% |
| 168 | Epidermolysis Bullosa | 7.7% |
| 169 | Amelia | 7.6% |
| 170 | Arachnodactyly | 7.6% |
| 171 | Ectopia Cordis | 7.6% |
| 172 | Ectromelia | 7.6% |
| 173 | Hemimelia | 7.6% |
| 174 | Meningomyelocele | 7.6% |
| 175 | Noonan Syndrome | 7.6% |
| 176 | Phocomelia | 7.6% |
| 177 | Sirenomelia | 7.6% |
| 178 | Spina Bifida | 7.6% |
| 179 | Polydactyly | 7.6% |
| 180 | Brachydactyly | 7.6% |
| 181 | Plagiocephaly | 7.6% |
| 182 | Lower Extremity Deformities, Congenital | 7.6% |
| 183 | Upper Extremity Deformities, Congenital | 7.6% |
| 184 | Single umbilical artery | 7.6% |
| 185 | Trachoma | 7.4% |
| 186 | Mandibulofacial Dysostosis | 7.4% |
| 187 | Smith-Lemli-Opitz Syndrome | 7.4% |
| 188 | Retinoblastoma | 7.4% |
| 189 | Turner Syndrome | 7.4% |
| 190 | Ichthyosis, X-Linked | 7.2% |
| 191 | Albinism | 7.1% |
| 192 | Cystic Fibrosis | 7.1% |
| 193 | Poland Syndrome | 7% |
| 194 | Abdominal Cramps | 7% |
| 195 | Amniotic Band Syndrome | 7% |
| 196 | Arthrogryposis | 7% |
| 197 | Asphyxia Neonatorum | 7% |
| 198 | Choanal Atresia | 7% |
| 199 | Infant, Premature, Diseases | 7% |
| 200 | Tracheobronchomegaly | 7% |
| 201 | Infantile Colic | 7% |
| 202 | Laryngocele | 7% |
| 203 | Jaw Abnormalities | 6.9% |
| 204 | Cleft Palate | 6.9% |
| 205 | Choledochal Cyst | 6.9% |
| 206 | Endophthalmitis | 6.9% |
| 207 | Hermaphroditism | 6.9% |
| 208 | Optic Atrophy | 6.9% |
| 209 | Optic Neuritis | 6.9% |
| 210 | Papilledema | 6.9% |
| 211 | Pemphigoid, Benign Mucous Membrane | 6.9% |
| 212 | Retinal Artery Occlusion | 6.9% |
| 213 | Disorders of Sex Development | 6.9% |
| 214 | Strabismus | 6.9% |
| 215 | Tolosa-Hunt Syndrome | 6.9% |
| 216 | Orbital Cellulitis | 6.9% |
| 217 | Retinal Vasculitis | 6.9% |
| 218 | Hypertensive Retinopathy | 6.9% |
| 219 | Retrobulbar Hemorrhage | 6.9% |
| 220 | Corneal Endothelial Cell Loss | 6.9% |
| 221 | Hyphema | 6.8% |
| 222 | Retinal Neovascularization | 6.8% |
| 223 | Vitreous Hemorrhage | 6.8% |
| 224 | Acanthamoeba Keratitis | 6.8% |
| 225 | Cryptorchidism | 6.8% |
| 226 | Angle Closure Glaucoma | 6.8% |
| 227 | Glaucoma, Open-Angle | 6.8% |
| 228 | Macular degeneration | 6.8% |
| 229 | Panuveitis | 6.8% |
| 230 | Retinal Drusen | 6.8% |
| 231 | Retinal Necrosis Syndrome, Acute | 6.8% |
| 232 | Retinoschisis | 6.8% |
| 233 | Exfoliation Syndrome | 6.8% |
| 234 | Hypospadias | 6.8% |
| 235 | Keratitis, Herpetic | 6.8% |
| 236 | Cytomegalovirus Retinitis | 6.8% |
| 237 | Central Nervous System Cysts | 6.8% |
| 238 | Dandy-Walker Syndrome | 6.7% |
| 239 | Bacterial conjunctivitis | 6.7% |
| 240 | POEMS Syndrome | 6.7% |
| 241 | Ophthalmia Neonatorum | 6.6% |
| 242 | Corneal Perforation | 6.6% |
| 243 | Polycystic Kidney, Autosomal Dominant | 6.5% |
| 244 | Klinefelter Syndrome | 6.3% |
| 245 | Dermal Sinus | 6.2% |
| 246 | Spina Bifida Cystica | 6.2% |
| 247 | Spina Bifida Occulta | 6.2% |
| 248 | Lissencephaly | 6.2% |
| 249 | Polymicrogyria | 6.2% |
| 250 | Pachygyria | 6.2% |
| 251 | Schizencephaly | 6.2% |
| 252 | Periventricular Nodular Heterotopia | 6.2% |
| 253 | Optic Atrophy, Hereditary, Leber | 6.2% |
| 254 | Aortic coarctation | 6% |
| 255 | Cor Triatriatum | 6% |
| 256 | Coronary Vessel Anomalies | 6% |
| 257 | Dental Enamel Hypoplasia | 6% |
| 258 | Patent ductus arteriosus | 6% |
| 259 | Ebstein Anomaly | 6% |
| 260 | Heart Septal Defects | 6% |
| 261 | Hypodontia | 6% |
| 262 | Macrostomia | 6% |
| 263 | Meningocele | 6% |
| 264 | Microstomia | 6% |
| 265 | Tetralogy of Fallot | 6% |
| 266 | Transposition of Great Vessels | 6% |
| 267 | Hypoplastic Left Heart Syndrome | 6% |
| 268 | May-Thurner Syndrome | 6% |
| 269 | Encephalocele | 6% |
| 270 | Craniofacial Dysostosis | 6% |
| 271 | Pseudoxanthoma Elasticum | 6% |
| 272 | Wolff-Parkinson-White Syndrome | 6% |
| 273 | Meconium Aspiration Syndrome | 5.9% |
| 274 | Laryngomalacia | 5.9% |
| 275 | Pectus carinatum | 5.9% |
| 276 | Micrognathism | 5.8% |
| 277 | Pierre Robin Syndrome | 5.8% |
| 278 | Sjogren-Larsson Syndrome | 5.8% |
| 279 | Bladder Exstrophy | 5.8% |
| 280 | Epispadias | 5.8% |
| 281 | Multicystic Dysplastic Kidney | 5.8% |
| 282 | Charcot-Marie-Tooth Disease | 5.6% |
| 283 | Antley-Bixler Syndrome Phenotype | 5.6% |
| 284 | Anterior uveitis | 5.6% |
| 285 | Uveitis, Posterior | 5.6% |
| 286 | Kallmann Syndrome | 5.6% |
| 287 | Optic Neuropathy, Ischemic | 5.6% |
| 288 | Anterior Ischemic Optic Neuropathy | 5.6% |
| 289 | Hyperkeratosis, Epidermolytic | 5.5% |
| 290 | Retinal Vein Occlusion | 5.5% |
| 291 | Neoplastic Syndromes, Hereditary | 5.5% |
| 292 | Anisocoria | 5.4% |
| 293 | Diabetic Retinopathy | 5.4% |
| 294 | Tonic Pupil | 5.4% |
| 295 | Eye pain | 5.4% |
| 296 | Orbital Myositis | 5.4% |
| 297 | Panophthalmitis | 5.4% |
| 298 | Xeroderma Pigmentosum | 5.4% |
| 299 | Diplopia | 5.4% |
| 300 | Scotoma | 5.4% |
| 301 | Photophobia | 5.4% |
| 302 | Amaurosis | 5.4% |
| 303 | Blindness | 5.4% |
| 304 | Retrognathia | 5.2% |
| 305 | Anemia, Neonatal | 5.2% |
| 306 | Multiple Epiphyseal Dysplasia | 5.2% |
| 307 | Osteochondrodysplasias | 5.2% |
| 308 | Pelger-Huet Anomaly | 5.2% |
| 309 | Persistent Fetal Circulation Syndrome | 5.2% |
| 310 | Werner Syndrome | 5.2% |
| 311 | Myasthenic Syndromes, Congenital | 5.2% |
| 312 | Umbilical hernia | 5.1% |
| 313 | Esotropia | 5% |
| 314 | Exotropia | 5% |
| 315 | Choroidal Neovascularization | 5% |
| 316 | Long QT Syndrome | 5% |
| 317 | Platybasia | 5% |
| 318 | Tricuspid Atresia | 5% |
| 319 | Arrhythmogenic Right Ventricular Dysplasia | 5% |
| 320 | Gonadal Dysgenesis | 5% |
| 321 | Bronchomalacia | 5% |
| 322 | Adrenogenital Syndrome | 5% |
| 323 | Tracheomalacia | 5% |
| 324 | Ovotesticular Disorders of Sex Development | 5% |
| 325 | Zellweger Syndrome | 5% |
| 326 | Aortopulmonary Septal Defect | 5% |
| 327 | Double Outlet Right Ventricle | 5% |
| 328 | Endocardial Cushion Defects | 5% |
| 329 | Myocardial bridging | 5% |
| 330 | Aorticopulmonary Septal Defect | 5% |
| 331 | Hyperandrogenism | 4.9% |
| 332 | Basal Cell Nevus Syndrome | 4.8% |
| 333 | Tuberous Sclerosis | 4.8% |
| 334 | Prognathism | 4.7% |
| 335 | Familial Mediterranean Fever | 4.5% |
| 336 | Ophthalmoplegia | 4.5% |
| 337 | External Ophthalmoplegia | 4.5% |
| 338 | Refsum Disease | 4.5% |
| 339 | Amblyopia | 4.5% |
| 340 | Anemia, Sickle Cell | 4.5% |
| 341 | Thalassemia | 4.5% |
| 342 | Muscular Dystrophy, Duchenne | 4.4% |
| 343 | Truncus Arteriosus, Persistent | 4.4% |
| 344 | Goldenhar Syndrome | 4.4% |
| 345 | Dwarfism | 4.3% |
| 346 | Neonatal Abstinence Syndrome | 4.2% |
| 347 | Fetal Growth Retardation | 4.1% |
| 348 | Romano-Ward Syndrome | 4.1% |
| 349 | Uveomeningoencephalitic Syndrome | 4.1% |
| 350 | Muscular Dystrophy | 4.1% |
| 351 | Osteogenesis Imperfecta | 4.1% |
| 352 | Fetal Hypoxia | 4.1% |
| 353 | Fetal Alcohol Spectrum Disorders | 4.1% |
| 354 | Herpes Zoster Ophthalmicus | 4.1% |
| 355 | Toxoplasmosis, Congenital | 4% |
| 356 | Syphilis, Congenital | 4% |
| 357 | Hemianopsia | 4% |
| 358 | Amaurosis Fugax | 4% |
| 359 | Blindness, Cortical | 4% |
| 360 | Rett Syndrome | 4% |
| 361 | Talipes | 3.7% |
| 362 | Mucopolysaccharidosis II | 3.6% |
| 363 | Behcet Syndrome | 3.6% |
| 364 | Congenital clubfoot | 3.5% |
| 365 | Vertical Talus | 3.5% |
| 366 | Paralysis, Obstetric | 3.4% |
| 367 | Autoimmune Lymphoproliferative Syndrome | 3.4% |
| 368 | Graves Disease | 3.4% |
| 369 | Congenital Hyperinsulinism | 3.4% |
| 370 | Amino Acid Metabolism, Inborn Errors | 3.4% |
| 371 | Carbohydrate Metabolism, Inborn Errors | 3.4% |
| 372 | Chorioamnionitis | 3.4% |
| 373 | Metal Metabolism, Inborn Errors | 3.4% |
| 374 | Progeria | 3.4% |
| 375 | Lysosomal Storage Diseases | 3.4% |
| 376 | Cytochrome-c Oxidase Deficiency | 3.4% |
| 377 | Peroxisomal Disorders | 3.4% |
| 378 | Bronchopulmonary Dysplasia | 3.4% |
| 379 | Horner Syndrome | 3.4% |
| 380 | Angioedemas, Hereditary | 3.4% |
| 381 | Wiskott-Aldrich Syndrome | 3.3% |
| 382 | Sickle Cell Trait | 3.3% |
| 383 | Menkes Kinky Hair Syndrome | 3.3% |
| 384 | Arteriovenous fistula | 3.1% |
| 385 | Neuronal Ceroid-Lipofuscinoses | 3.1% |
| 386 | Opsoclonus-Myoclonus Syndrome | 3% |
| 387 | Myotonic Dystrophy | 2.9% |
| 388 | Respiratory Distress Syndrome, Newborn | 2.8% |
| 389 | Cutis Laxa | 2.7% |
| 390 | Porokeratosis | 2.7% |
| 391 | Keratoderma, Palmoplantar | 2.7% |
| 392 | Chronic granulomatous disease | 2.7% |
| 393 | Welander Distal Myopathy | 2.7% |
| 394 | Miller Fisher Syndrome | 2.6% |
| 395 | Adrenoleukodystrophy | 2.6% |
| 396 | Kearns-Sayre syndrome | 2.6% |
| 397 | Amyloid Neuropathies, Familial | 2.6% |
| 398 | Hepatolenticular Degeneration | 2.5% |
| 399 | Acute Chest Syndrome | 2.5% |
| 400 | Alkaptonuria | 2.5% |
| 401 | Glycogen Storage Disease | 2.5% |
| 402 | Hypophosphatasia | 2.5% |
| 403 | Propionic acidemia | 2.5% |
| 404 | Dihydropyrimidine Dehydrogenase Deficiency | 2.5% |
| 405 | Cystinosis | 2.5% |
| 406 | Sicca Syndrome | 2.5% |
| 407 | Sjogren's Syndrome | 2.5% |
| 408 | Fabry Disease | 2.5% |
| 409 | Galactosemias | 2.5% |
| 410 | Urea Cycle Disorders, Inborn | 2.5% |
| 411 | Tyrosinemias | 2.5% |
| 412 | Denys-Drash Syndrome | 2.4% |
| 413 | Glycogen storage disease type II | 2.4% |
| 414 | Hydrops Fetalis | 2.4% |
| 415 | Mucopolysaccharidosis III | 2.3% |
| 416 | Porphyrias, Hepatic | 2.3% |
| 417 | Ataxia Telangiectasia | 2.3% |
| 418 | Peutz-Jeghers Syndrome | 2.2% |
| 419 | Myotonia Congenita | 2.2% |
| 420 | Thrombasthenia | 2.2% |
| 421 | Antithrombin III Deficiency | 2.2% |
| 422 | Protein C Deficiency | 2.2% |
| 423 | Brain Diseases, Metabolic, Inborn | 2.2% |
| 424 | Ophthalmoplegic Migraine | 2.2% |
| 425 | Afibrinogenemia | 2.2% |
| 426 | Dystonia Musculorum Deformans | 2.2% |
| 427 | Factor VII Deficiency | 2.2% |
| 428 | Factor X Deficiency | 2.2% |
| 429 | Factor XII Deficiency | 2.2% |
| 430 | Hemophilia A | 2.2% |
| 431 | Leukomalacia, Periventricular | 2.2% |
| 432 | Activated Protein C Resistance | 2.2% |
| 433 | Factor II deficiency | 2.2% |
| 434 | Factor VIII Deficiency | 2.2% |
| 435 | Factor V deficiency | 2.2% |
| 436 | Factor XI Deficiency | 2.2% |
| 437 | Hypoprothrombinemias | 2.2% |
| 438 | Fanconi Anemia | 2.2% |
| 439 | Nesidioblastosis | 2.2% |
| 440 | Progressive supranuclear palsy | 2.2% |
| 441 | Lafora Disease | 2.2% |
| 442 | Unverricht-Lundborg Syndrome | 2.2% |
| 443 | Anemia, Diamond-Blackfan | 2.2% |
| 444 | Hyperphosphaturia | 2.2% |
| 445 | Canavan Disease | 2.1% |
| 446 | Alexander Disease | 2.1% |
| 447 | Glycogen Storage Disease Type I | 2.1% |
| 448 | Glycogen Storage Disease Type V | 2.1% |
| 449 | Hyaline Membrane Disease | 2% |
| 450 | Homocystinuria | 2% |
| 451 | Leigh Disease | 2% |
| 452 | Hypolipoproteinemias | 2% |
| 453 | Papillon-Lefevre Disease | 2% |
| 454 | Hyperlipidemia, Familial Combined | 2% |
| 455 | Multiple Endocrine Neoplasia | 2% |
| 456 | Hyperlipoproteinemia Type III | 2% |
| 457 | Neuromyelitis Optica | 2% |
| 458 | Gaucher Disease | 2% |
| 459 | Congenital Hypothyroidism | 1.9% |
| 460 | Dermatitis, Atopic | 1.9% |
| 461 | Carbamoyl-Phosphate Synthase I Deficiency Disease | 1.8% |
| 462 | Tay-Sachs Disease | 1.8% |
| 463 | Niemann-Pick Disease, Type C | 1.7% |
| 464 | Kernicterus | 1.7% |
| 465 | Familial Periodic Paralysis | 1.7% |
| 466 | Lactose Intolerance | 1.7% |
| 467 | Variegate Porphyria | 1.7% |
| 468 | Acute intermittent porphyria | 1.7% |
| 469 | Porphyria Cutanea Tarda | 1.7% |
| 470 | Hyperhomocysteinemia | 1.7% |
| 471 | Renal Aminoacidurias | 1.6% |
| 472 | Fanconi Syndrome | 1.6% |
| 473 | Pseudohypoaldosteronism | 1.6% |
| 474 | Liddle Syndrome | 1.6% |
| 475 | Hypoalphalipoproteinemias | 1.6% |
| 476 | Hyperlipoproteinemia Type IV | 1.6% |
| 477 | Hyperlipoproteinemia Type V | 1.6% |
| 478 | Optic Nerve Glioma | 1.6% |
| 479 | Huntington Disease | 1.5% |
| 480 | Gout | 1.4% |
| 481 | Multiple Endocrine Neoplasia Type 1 | 1.4% |
| 482 | Pseudohypoparathyroidism | 1.4% |
| 483 | Friedreich Ataxia | 1.4% |
| 484 | Renal tubular acidosis | 1.4% |
| 485 | Hypokalemic periodic paralysis | 1.4% |
| 486 | Cystinuria | 1.4% |
| 487 | Nephroblastoma | 1.3% |
| 488 | Adenomatous Polyposis Coli | 1.2% |
| 489 | Arthritis, Gouty | 1.2% |
| 490 | Familial Hypophosphatemic Rickets | 1.1% |
| 491 | Glycosuria, Renal | 1.1% |
| 492 | MELAS Syndrome | 0.9% |