| 1 | Retinal Dysplasia | 55.9% |
| 2 | Blepharophimosis | 39.7% |
| 3 | Aicardi's syndrome | 37.8% |
| 4 | Retinitis Pigmentosa | 35.3% |
| 5 | Pigmentary retinopathy | 35.3% |
| 6 | Duane Retraction Syndrome | 35.1% |
| 7 | Anophthalmos | 34.3% |
| 8 | Microphthalmos | 34.3% |
| 9 | Iridocorneal endothelial syndrome | 30.4% |
| 10 | Retinal Degeneration | 29.7% |
| 11 | CHARGE Syndrome | 29.1% |
| 12 | Albinism | 27.5% |
| 13 | Iridocyclitis | 27.2% |
| 14 | Iritis | 27.2% |
| 15 | Alstrom Syndrome | 24.6% |
| 16 | Uveal Neoplasms | 24.1% |
| 17 | Exfoliation Syndrome | 22.7% |
| 18 | Pars Planitis | 22.2% |
| 19 | Optic Atrophy, Hereditary, Leber | 21.3% |
| 20 | Chorioretinitis | 21% |
| 21 | Beckwith-Wiedemann Syndrome | 20.3% |
| 22 | Wolf-Hirschhorn Syndrome | 20.3% |
| 23 | Holoprosencephaly | 20.1% |
| 24 | Asthenopia | 20% |
| 25 | Conjunctival Diseases | 20% |
| 26 | Corneal Diseases | 20% |
| 27 | Eyelid Diseases | 20% |
| 28 | Lacrimal Apparatus Diseases | 20% |
| 29 | Lens Diseases | 20% |
| 30 | Ocular Hypertension | 20% |
| 31 | Ocular Hypotension | 20% |
| 32 | Retinal Diseases | 20% |
| 33 | Scleral Diseases | 20% |
| 34 | Vitreous Detachment | 20% |
| 35 | Posterior Vitreous Detachment | 20% |
| 36 | Choroid Hemorrhage | 19.6% |
| 37 | Choroid Diseases | 19.5% |
| 38 | Uveitis | 19.5% |
| 39 | Choroiditis | 19.5% |
| 40 | Retinoblastoma | 19.5% |
| 41 | Eyelid Neoplasms | 18.9% |
| 42 | Retinal Hemorrhage | 18.9% |
| 43 | Color blindness | 18.8% |
| 44 | Xerophthalmia | 18.6% |
| 45 | Low Tension Glaucoma | 18.6% |
| 46 | Smith-Magenis syndrome | 18.2% |
| 47 | Cri-du-Chat Syndrome | 18% |
| 48 | Down Syndrome | 18% |
| 49 | Trisomy 21 | 18% |
| 50 | Keratoconjunctivitis Sicca | 17.6% |
| 51 | Eye Infection | 17.2% |
| 52 | Eye Manifestations | 17.2% |
| 53 | Eye Neoplasms | 17.2% |
| 54 | Optic Neuropathy | 17.2% |
| 55 | Rubinstein-Taybi Syndrome | 16.7% |
| 56 | Kartagener Syndrome | 16.6% |
| 57 | Corneal Scar | 16.6% |
| 58 | Aniridia | 16.4% |
| 59 | Corneal Ulcer | 16.2% |
| 60 | Ectodermal Dysplasia | 16.2% |
| 61 | Aplasia Cutis Congenita | 16.2% |
| 62 | Prader-Willi Syndrome | 16.1% |
| 63 | Fragile X Syndrome | 15.9% |
| 64 | Keratoconjunctivitis | 15.5% |
| 65 | Nail-Patella Syndrome | 15.3% |
| 66 | Ichthyosis, X-Linked | 15.2% |
| 67 | Ocular Motility Disorders | 15% |
| 68 | Cyclophoria | 15% |
| 69 | Pupil Disorders | 14.9% |
| 70 | Eye Hemorrhage | 14.8% |
| 71 | Marfan Syndrome | 14.7% |
| 72 | Vision Disorders | 14.7% |
| 73 | Metamorphopsia | 14.7% |
| 74 | Visual Impairment | 14.7% |
| 75 | Retinopathy of Prematurity | 14.7% |
| 76 | Cockayne Syndrome | 14.7% |
| 77 | Eye Injuries | 14.7% |
| 78 | Trachoma | 14.5% |
| 79 | Hordeolum | 14.3% |
| 80 | Eye Abnormalities | 14.1% |
| 81 | Mandibulofacial Dysostosis | 14.1% |
| 82 | Cystic Fibrosis | 14% |
| 83 | Abnormalities, Drug-Induced | 13.8% |
| 84 | Situs Inversus | 13.8% |
| 85 | Panuveitis | 13.6% |
| 86 | Angioid Streaks | 12.6% |
| 87 | Anisometropia | 12.6% |
| 88 | Aphakia | 12.6% |
| 89 | Astigmatism | 12.6% |
| 90 | Blepharitis | 12.6% |
| 91 | Blepharoptosis | 12.6% |
| 92 | Blepharospasm | 12.6% |
| 93 | Conjunctivitis | 12.6% |
| 94 | Corneal edema | 12.6% |
| 95 | Corneal Opacity | 12.6% |
| 96 | Dacryocystitis | 12.6% |
| 97 | Dry Eye Syndromes | 12.6% |
| 98 | Ectropion | 12.6% |
| 99 | Enophthalmos | 12.6% |
| 100 | Entropion | 12.6% |
| 101 | Episcleritis | 12.6% |
| 102 | Exophthalmos | 12.6% |
| 103 | Glaucoma | 12.6% |
| 104 | Keratitis | 12.6% |
| 105 | Keratoconus | 12.6% |
| 106 | Lacrimal Duct Obstruction | 12.6% |
| 107 | Lens dislocation | 12.6% |
| 108 | Lens Subluxation | 12.6% |
| 109 | Mydriasis | 12.6% |
| 110 | Myopia | 12.6% |
| 111 | Presbyopia | 12.6% |
| 112 | Pterygium | 12.6% |
| 113 | Retinal Detachment | 12.6% |
| 114 | Retinitis | 12.6% |
| 115 | Scleritis | 12.6% |
| 116 | Corneal Neovascularization | 12.6% |
| 117 | Orbital Pseudotumor | 12.6% |
| 118 | Cataract | 12.6% |
| 119 | Pinguecula | 12.6% |
| 120 | Trichiasis | 12.6% |
| 121 | Panophthalmitis | 12.4% |
| 122 | Acanthamoeba Keratitis | 12.1% |
| 123 | Neoplastic Syndromes, Hereditary | 12.1% |
| 124 | Cardiovascular Abnormalities | 12.1% |
| 125 | Smith-Lemli-Opitz Syndrome | 12.1% |
| 126 | Keratitis, Herpetic | 12.1% |
| 127 | Cytomegalovirus Retinitis | 12.1% |
| 128 | Bacterial conjunctivitis | 12% |
| 129 | Anemia, Sickle Cell | 12% |
| 130 | Thalassemia | 12% |
| 131 | Muscular Dystrophy, Duchenne | 11.9% |
| 132 | Polycystic Kidney Diseases | 11.9% |
| 133 | Williams Syndrome | 11.9% |
| 134 | Congenital nystagmus | 11.9% |
| 135 | Skin Abnormalities | 11.9% |
| 136 | Lymphatic Abnormalities | 11.9% |
| 137 | Congenital Microtia | 11.9% |
| 138 | Corneal Perforation | 11.9% |
| 139 | Anencephaly | 11.8% |
| 140 | Multiple Epiphyseal Dysplasia | 11.8% |
| 141 | Osteochondrodysplasias | 11.8% |
| 142 | Pelger-Huet Anomaly | 11.8% |
| 143 | Werner Syndrome | 11.8% |
| 144 | Myasthenic Syndromes, Congenital | 11.8% |
| 145 | Congenital diaphragmatic hernia | 11.7% |
| 146 | Choroidal Neovascularization | 11.6% |
| 147 | Ophthalmia Neonatorum | 11.5% |
| 148 | Mucopolysaccharidosis II | 11.1% |
| 149 | Primary Ciliary Dyskinesia | 11% |
| 150 | Sjogren-Larsson Syndrome | 10.9% |
| 151 | Epidermolysis Bullosa | 10.8% |
| 152 | Endophthalmitis | 10.8% |
| 153 | Optic Atrophy | 10.8% |
| 154 | Optic Neuritis | 10.8% |
| 155 | Papilledema | 10.8% |
| 156 | Pemphigoid, Benign Mucous Membrane | 10.8% |
| 157 | Retinal Artery Occlusion | 10.8% |
| 158 | Strabismus | 10.8% |
| 159 | Tolosa-Hunt Syndrome | 10.8% |
| 160 | Orbital Cellulitis | 10.8% |
| 161 | Retinal Vasculitis | 10.8% |
| 162 | Hypertensive Retinopathy | 10.8% |
| 163 | Retrobulbar Hemorrhage | 10.8% |
| 164 | Corneal Endothelial Cell Loss | 10.8% |
| 165 | Anterior uveitis | 10.7% |
| 166 | Uveitis, Posterior | 10.7% |
| 167 | Hyphema | 10.7% |
| 168 | Retinal Neovascularization | 10.7% |
| 169 | Vitreous Hemorrhage | 10.7% |
| 170 | Urogenital Abnormalities | 10.6% |
| 171 | Xeroderma | 10.6% |
| 172 | Mobius Syndrome | 10.6% |
| 173 | Maxillofacial Abnormalities | 10.6% |
| 174 | Dural Arteriovenous Fistula | 10.6% |
| 175 | Dwarfism | 10.5% |
| 176 | Menkes Kinky Hair Syndrome | 10.5% |
| 177 | Dextrocardia | 10.5% |
| 178 | Kallmann Syndrome | 10.3% |
| 179 | Uveomeningoencephalitic Syndrome | 10.3% |
| 180 | Classical Lissencephalies and Subcortical Band Heterotopias | 10.2% |
| 181 | Tuberous Sclerosis | 10.2% |
| 182 | Muscular Dystrophy | 10.2% |
| 183 | Osteogenesis Imperfecta | 10.2% |
| 184 | Fetal Diseases | 10.1% |
| 185 | Rett Syndrome | 10% |
| 186 | Behcet Syndrome | 10% |
| 187 | Refsum Disease | 9.9% |
| 188 | Wiskott-Aldrich Syndrome | 9.7% |
| 189 | Optic Neuropathy, Ischemic | 9.5% |
| 190 | Anterior Ischemic Optic Neuropathy | 9.5% |
| 191 | Turner Syndrome | 9.5% |
| 192 | Retinal Vein Occlusion | 9.4% |
| 193 | Anisocoria | 9.4% |
| 194 | Diabetic Retinopathy | 9.4% |
| 195 | Tonic Pupil | 9.4% |
| 196 | Eye pain | 9.4% |
| 197 | Orbital Myositis | 9.4% |
| 198 | Diplopia | 9.3% |
| 199 | Scotoma | 9.3% |
| 200 | Photophobia | 9.3% |
| 201 | Amaurosis | 9.3% |
| 202 | Blindness | 9.3% |
| 203 | Iris Diseases | 9.2% |
| 204 | Autoimmune Lymphoproliferative Syndrome | 9.2% |
| 205 | Angle Closure Glaucoma | 9.1% |
| 206 | Glaucoma, Open-Angle | 9.1% |
| 207 | Macular degeneration | 9.1% |
| 208 | Familial Mediterranean Fever | 9.1% |
| 209 | Prune Belly Syndrome | 9.1% |
| 210 | Retinal Drusen | 9.1% |
| 211 | Retinal Necrosis Syndrome, Acute | 9.1% |
| 212 | Twins, Conjoined | 9.1% |
| 213 | Retinoschisis | 9.1% |
| 214 | Waardenburg Syndrome | 9.1% |
| 215 | Pseudoxanthoma Elasticum | 9% |
| 216 | Adrenoleukodystrophy | 9% |
| 217 | Angioedemas, Hereditary | 9% |
| 218 | Myotonic Dystrophy | 8.9% |
| 219 | Sickle Cell Trait | 8.9% |
| 220 | Zellweger Syndrome | 8.9% |
| 221 | Polycystic Kidney, Autosomal Dominant | 8.8% |
| 222 | Scimitar Syndrome | 8.7% |
| 223 | Acrocephalosyndactylia | 8.7% |
| 224 | Neuronal Ceroid-Lipofuscinoses | 8.7% |
| 225 | Hyperkeratosis, Epidermolytic | 8.4% |
| 226 | Xeroderma Pigmentosum | 8.3% |
| 227 | Hepatolenticular Degeneration | 8.3% |
| 228 | Ophthalmoplegia | 8.3% |
| 229 | External Ophthalmoplegia | 8.3% |
| 230 | Meconium Aspiration Syndrome | 8.3% |
| 231 | Amblyopia | 8.3% |
| 232 | Klinefelter Syndrome | 8.2% |
| 233 | Fabry Disease | 8.2% |
| 234 | Microcephaly | 8.2% |
| 235 | Macrocephaly | 8.2% |
| 236 | Abnormalities, Radiation-Induced | 8.1% |
| 237 | Craniosynostosis | 8% |
| 238 | Syndactyly | 8% |
| 239 | Brachycephaly | 8% |
| 240 | Charcot-Marie-Tooth Disease | 8% |
| 241 | Antley-Bixler Syndrome Phenotype | 8% |
| 242 | Anus, Imperforate | 7.8% |
| 243 | Hydranencephaly | 7.8% |
| 244 | Neural Tube Defects | 7.8% |
| 245 | Tethered Cord Syndrome | 7.8% |
| 246 | Iniencephaly | 7.8% |
| 247 | Craniorachischisis | 7.8% |
| 248 | Limb Deformities, Congenital | 7.8% |
| 249 | Exencephaly | 7.8% |
| 250 | Septo-Optic Dysplasia | 7.8% |
| 251 | Craniofacial Abnormalities | 7.8% |
| 252 | Cortical Dysplasia | 7.8% |
| 253 | Malformations of Cortical Development | 7.8% |
| 254 | Anorectal Malformations | 7.8% |
| 255 | Amino Acid Metabolism, Inborn Errors | 7.8% |
| 256 | Bloom Syndrome | 7.8% |
| 257 | Carbohydrate Metabolism, Inborn Errors | 7.8% |
| 258 | Metal Metabolism, Inborn Errors | 7.8% |
| 259 | Progeria | 7.8% |
| 260 | Lysosomal Storage Diseases | 7.8% |
| 261 | Cytochrome-c Oxidase Deficiency | 7.8% |
| 262 | Peroxisomal Disorders | 7.8% |
| 263 | Amyloid Neuropathies, Familial | 7.7% |
| 264 | Esotropia | 7.7% |
| 265 | Exotropia | 7.7% |
| 266 | Basal Cell Nevus Syndrome | 7.6% |
| 267 | Glycogen storage disease type II | 7.5% |
| 268 | Porencephaly | 7.4% |
| 269 | Noonan Syndrome | 7.4% |
| 270 | Acute Chest Syndrome | 7.3% |
| 271 | Cleft Palate | 7.3% |
| 272 | Galactosemias | 7.2% |
| 273 | Urea Cycle Disorders, Inborn | 7.2% |
| 274 | Tyrosinemias | 7.2% |
| 275 | Abdominal Cramps | 6.9% |
| 276 | Amniotic Band Syndrome | 6.9% |
| 277 | Asphyxia Neonatorum | 6.9% |
| 278 | Infant, Premature, Diseases | 6.9% |
| 279 | Laryngostenosis | 6.9% |
| 280 | Mouth Abnormalities | 6.9% |
| 281 | Infantile Colic | 6.9% |
| 282 | Cutis Laxa | 6.8% |
| 283 | Esophageal Atresia | 6.8% |
| 284 | Intestinal Atresia | 6.8% |
| 285 | Horseshoe Kidney | 6.8% |
| 286 | Pectus excavatum | 6.8% |
| 287 | Klippel-Feil Syndrome | 6.8% |
| 288 | Gastroschisis | 6.8% |
| 289 | Synostosis | 6.8% |
| 290 | Herpes Zoster Ophthalmicus | 6.8% |
| 291 | Ataxia Telangiectasia | 6.8% |
| 292 | Acrodermatitis | 6.8% |
| 293 | Lymphangiectasis, Intestinal | 6.8% |
| 294 | Porokeratosis | 6.8% |
| 295 | Gianotti-Crosti Syndrome | 6.8% |
| 296 | Keratoderma, Palmoplantar | 6.8% |
| 297 | Jaw Abnormalities | 6.8% |
| 298 | Chronic granulomatous disease | 6.8% |
| 299 | Hemianopsia | 6.7% |
| 300 | Welander Distal Myopathy | 6.7% |
| 301 | Amaurosis Fugax | 6.7% |
| 302 | Blindness, Cortical | 6.7% |
| 303 | Poland Syndrome | 6.6% |
| 304 | Canavan Disease | 6.6% |
| 305 | Alexander Disease | 6.6% |
| 306 | Hyperphosphaturia | 6.6% |
| 307 | Mucopolysaccharidosis III | 6.6% |
| 308 | Gaucher Disease | 6.3% |
| 309 | Opsoclonus-Myoclonus Syndrome | 6.2% |
| 310 | Arthrogryposis | 6.2% |
| 311 | Choanal Atresia | 6.2% |
| 312 | Tracheobronchomegaly | 6.2% |
| 313 | Laryngocele | 6.2% |
| 314 | Choledochal Cyst | 6.1% |
| 315 | Hermaphroditism | 6.1% |
| 316 | Disorders of Sex Development | 6.1% |
| 317 | Homocystinuria | 6.1% |
| 318 | Cryptorchidism | 6.1% |
| 319 | Graves Disease | 6.1% |
| 320 | Porphyrias, Hepatic | 6.1% |
| 321 | Hypospadias | 6.1% |
| 322 | Leigh Disease | 6.1% |
| 323 | Central Nervous System Cysts | 6% |
| 324 | Dandy-Walker Syndrome | 6% |
| 325 | Horner Syndrome | 6% |
| 326 | Peutz-Jeghers Syndrome | 6% |
| 327 | Myotonia Congenita | 6% |
| 328 | Thrombasthenia | 6% |
| 329 | Antithrombin III Deficiency | 6% |
| 330 | Protein C Deficiency | 6% |
| 331 | Brain Diseases, Metabolic, Inborn | 6% |
| 332 | Afibrinogenemia | 6% |
| 333 | Dystonia Musculorum Deformans | 6% |
| 334 | Factor VII Deficiency | 6% |
| 335 | Factor X Deficiency | 6% |
| 336 | Factor XII Deficiency | 6% |
| 337 | Hemophilia A | 6% |
| 338 | POEMS Syndrome | 6% |
| 339 | Activated Protein C Resistance | 6% |
| 340 | Factor II deficiency | 6% |
| 341 | Factor VIII Deficiency | 6% |
| 342 | Factor V deficiency | 6% |
| 343 | Factor XI Deficiency | 6% |
| 344 | Hypoprothrombinemias | 6% |
| 345 | Fanconi Anemia | 5.9% |
| 346 | Lafora Disease | 5.9% |
| 347 | Unverricht-Lundborg Syndrome | 5.9% |
| 348 | Anemia, Diamond-Blackfan | 5.9% |
| 349 | Anemia, Neonatal | 5.9% |
| 350 | Persistent Fetal Circulation Syndrome | 5.9% |
| 351 | Deformity | 5.9% |
| 352 | Genetic Diseases, Inborn | 5.9% |
| 353 | Umbilical hernia | 5.8% |
| 354 | Amelia | 5.8% |
| 355 | Arachnodactyly | 5.8% |
| 356 | Ectopia Cordis | 5.8% |
| 357 | Ectromelia | 5.8% |
| 358 | Hemimelia | 5.8% |
| 359 | Meningomyelocele | 5.8% |
| 360 | Phocomelia | 5.8% |
| 361 | Sirenomelia | 5.8% |
| 362 | Spina Bifida | 5.8% |
| 363 | Polydactyly | 5.8% |
| 364 | Brachydactyly | 5.8% |
| 365 | Plagiocephaly | 5.8% |
| 366 | Lower Extremity Deformities, Congenital | 5.8% |
| 367 | Upper Extremity Deformities, Congenital | 5.8% |
| 368 | Single umbilical artery | 5.8% |
| 369 | Alkaptonuria | 5.8% |
| 370 | Glycogen Storage Disease | 5.8% |
| 371 | Hypophosphatasia | 5.8% |
| 372 | Propionic acidemia | 5.8% |
| 373 | Dihydropyrimidine Dehydrogenase Deficiency | 5.8% |
| 374 | Cystinosis | 5.8% |
| 375 | Micrognathism | 5.7% |
| 376 | Pierre Robin Syndrome | 5.7% |
| 377 | Tay-Sachs Disease | 5.7% |
| 378 | Miller Fisher Syndrome | 5.6% |
| 379 | Multiple Endocrine Neoplasia | 5.5% |
| 380 | Laryngomalacia | 5.5% |
| 381 | Niemann-Pick Disease, Type C | 5.5% |
| 382 | Pectus carinatum | 5.5% |
| 383 | Carbamoyl-Phosphate Synthase I Deficiency Disease | 5.5% |
| 384 | Bladder Exstrophy | 5.4% |
| 385 | Congenital Hypothyroidism | 5.4% |
| 386 | Epispadias | 5.4% |
| 387 | Dermatitis, Atopic | 5.4% |
| 388 | Multicystic Dysplastic Kidney | 5.4% |
| 389 | Kearns-Sayre syndrome | 5.4% |
| 390 | Retrognathia | 5.3% |
| 391 | Neonatal Abstinence Syndrome | 5.2% |
| 392 | Fetal Growth Retardation | 5.1% |
| 393 | Fetal Hypoxia | 5.1% |
| 394 | Fetal Alcohol Spectrum Disorders | 5.1% |
| 395 | Toxoplasmosis, Congenital | 5.1% |
| 396 | Aortic coarctation | 5.1% |
| 397 | Cor Triatriatum | 5.1% |
| 398 | Coronary Vessel Anomalies | 5.1% |
| 399 | Dental Enamel Hypoplasia | 5.1% |
| 400 | Patent ductus arteriosus | 5.1% |
| 401 | Ebstein Anomaly | 5.1% |
| 402 | Heart Septal Defects | 5.1% |
| 403 | Hypodontia | 5.1% |
| 404 | Macrostomia | 5.1% |
| 405 | Meningocele | 5.1% |
| 406 | Microstomia | 5.1% |
| 407 | Syphilis, Congenital | 5.1% |
| 408 | Tetralogy of Fallot | 5.1% |
| 409 | Transposition of Great Vessels | 5.1% |
| 410 | Hypoplastic Left Heart Syndrome | 5.1% |
| 411 | May-Thurner Syndrome | 5.1% |
| 412 | Encephalocele | 5.1% |
| 413 | Hyperandrogenism | 5.1% |
| 414 | Craniofacial Dysostosis | 5% |
| 415 | Hydrops Fetalis | 5% |
| 416 | Hypolipoproteinemias | 5% |
| 417 | Papillon-Lefevre Disease | 5% |
| 418 | Wolff-Parkinson-White Syndrome | 5% |
| 419 | Hyperlipidemia, Familial Combined | 5% |
| 420 | Hyperlipoproteinemia Type III | 5% |
| 421 | Sicca Syndrome | 4.9% |
| 422 | Sjogren's Syndrome | 4.9% |
| 423 | Prognathism | 4.9% |
| 424 | Dermal Sinus | 4.8% |
| 425 | Spina Bifida Cystica | 4.8% |
| 426 | Spina Bifida Occulta | 4.8% |
| 427 | Lissencephaly | 4.8% |
| 428 | Polymicrogyria | 4.8% |
| 429 | Pachygyria | 4.8% |
| 430 | Schizencephaly | 4.8% |
| 431 | Periventricular Nodular Heterotopia | 4.8% |
| 432 | Glycogen Storage Disease Type I | 4.8% |
| 433 | Glycogen Storage Disease Type V | 4.8% |
| 434 | Congenital Hyperinsulinism | 4.5% |
| 435 | Chorioamnionitis | 4.5% |
| 436 | Familial Periodic Paralysis | 4.5% |
| 437 | Long QT Syndrome | 4.5% |
| 438 | Platybasia | 4.5% |
| 439 | Tricuspid Atresia | 4.5% |
| 440 | Arrhythmogenic Right Ventricular Dysplasia | 4.5% |
| 441 | Ophthalmoplegic Migraine | 4.5% |
| 442 | Gonadal Dysgenesis | 4.5% |
| 443 | Bronchomalacia | 4.5% |
| 444 | Adrenogenital Syndrome | 4.5% |
| 445 | Tracheomalacia | 4.5% |
| 446 | Ovotesticular Disorders of Sex Development | 4.5% |
| 447 | Lactose Intolerance | 4.5% |
| 448 | Variegate Porphyria | 4.5% |
| 449 | Acute intermittent porphyria | 4.5% |
| 450 | Porphyria Cutanea Tarda | 4.5% |
| 451 | Huntington Disease | 4.5% |
| 452 | Hyperhomocysteinemia | 4.4% |
| 453 | Progressive supranuclear palsy | 4.4% |
| 454 | Renal Aminoacidurias | 4.4% |
| 455 | Fanconi Syndrome | 4.4% |
| 456 | Pseudohypoaldosteronism | 4.4% |
| 457 | Liddle Syndrome | 4.4% |
| 458 | Hyperlipoproteinemia Type IV | 4.4% |
| 459 | Hyperlipoproteinemia Type V | 4.4% |
| 460 | Denys-Drash Syndrome | 4.2% |
| 461 | Aortopulmonary Septal Defect | 4.2% |
| 462 | Double Outlet Right Ventricle | 4.2% |
| 463 | Endocardial Cushion Defects | 4.2% |
| 464 | Myocardial bridging | 4.2% |
| 465 | Aorticopulmonary Septal Defect | 4.2% |
| 466 | Hypoalphalipoproteinemias | 4.2% |
| 467 | Nephroblastoma | 4.1% |
| 468 | Neuromyelitis Optica | 4.1% |
| 469 | Gout | 4.1% |
| 470 | Multiple Endocrine Neoplasia Type 1 | 4% |
| 471 | Pseudohypoparathyroidism | 4% |
| 472 | Friedreich Ataxia | 4% |
| 473 | Renal tubular acidosis | 4% |
| 474 | Paralysis, Obstetric | 3.9% |
| 475 | Bronchopulmonary Dysplasia | 3.9% |
| 476 | Familial Hypophosphatemic Rickets | 3.8% |
| 477 | Adenomatous Polyposis Coli | 3.8% |
| 478 | Truncus Arteriosus, Persistent | 3.7% |
| 479 | Goldenhar Syndrome | 3.7% |
| 480 | Hypokalemic periodic paralysis | 3.7% |
| 481 | Romano-Ward Syndrome | 3.7% |
| 482 | Cystinuria | 3.7% |
| 483 | Optic Nerve Glioma | 3.5% |
| 484 | Respiratory Distress Syndrome, Newborn | 3.4% |
| 485 | Talipes | 3.3% |
| 486 | Arthritis, Gouty | 3.3% |
| 487 | Glycosuria, Renal | 3.3% |
| 488 | Congenital clubfoot | 3.1% |
| 489 | Vertical Talus | 3.1% |
| 490 | Arteriovenous fistula | 3% |
| 491 | Leukomalacia, Periventricular | 3% |
| 492 | Nesidioblastosis | 3% |
| 493 | MELAS Syndrome | 2.8% |
| 494 | Hyaline Membrane Disease | 2.5% |
| 495 | Kernicterus | 2.5% |