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- Norrie_disease abstract "Norrie disease is a genetic disorder that primarily affects the eye and almost always leads to blindness. In addition to the congenital ocular symptoms, some patients suffer from a progressive hearing loss starting mostly in their 2nd decade of life, while another portion may be mentally challenged.Patients with Norrie disease may develop cataracts, leukocoria (a condition where the pupils appear white when light is shone on them), along with other developmental issues in the eye, such as shrinking of the globe and the wasting away of the iris. Around 30 to 50% of them will also have developmental delay/mental retardation, psychotic-like features, incoordination of movements or behavioral abnormalities. Most patients are born with normal hearing; however, the onset of hearing loss is very common in early adolescence. About 15% of patients are estimated to develop all the features of the disease.The disease affects almost only male infants at or soon after birth, because the disease is inherited X-linked recessive. Only in very rare cases, females have been diagnosed with Norrie disease as well. The exact incidence number is unknown; only a few hundred cases have been reported. It is a very rare disorder that is not associated with any specific ethnic or racial groups.".
- Norrie_disease icd10 "Q15.8".
- Norrie_disease icd9 "743.8".
- Norrie_disease omim "310600".
- Norrie_disease thumbnail X-linked_recessive.svg?width=300.
- Norrie_disease wikiPageExternalLink www.norriedisease.org.
- Norrie_disease wikiPageID "1971959".
- Norrie_disease wikiPageLength "13977".
- Norrie_disease wikiPageOutDegree "70".
- Norrie_disease wikiPageRevisionID "700279531".
- Norrie_disease wikiPageWikiLink Adhesion.
- Norrie_disease wikiPageWikiLink Amino_acid.
- Norrie_disease wikiPageWikiLink Anterior_chamber_of_eyeball.
- Norrie_disease wikiPageWikiLink Atrophy.
- Norrie_disease wikiPageWikiLink Blood_vessel.
- Norrie_disease wikiPageWikiLink Cataract.
- Norrie_disease wikiPageWikiLink Category:Blindness.
- Norrie_disease wikiPageWikiLink Category:Congenital_disorders_of_eyes.
- Norrie_disease wikiPageWikiLink Category:Genetic_disorders.
- Norrie_disease wikiPageWikiLink Category:X-linked_recessive_disorders.
- Norrie_disease wikiPageWikiLink Congenital_disorder.
- Norrie_disease wikiPageWikiLink Consanguinity.
- Norrie_disease wikiPageWikiLink Cornea.
- Norrie_disease wikiPageWikiLink Cysteine.
- Norrie_disease wikiPageWikiLink Cystine_knot.
- Norrie_disease wikiPageWikiLink Diagnostic_test.
- Norrie_disease wikiPageWikiLink Epithelium.
- Norrie_disease wikiPageWikiLink Genetic_carrier.
- Norrie_disease wikiPageWikiLink Genetic_disorder.
- Norrie_disease wikiPageWikiLink Genetic_linkage.
- Norrie_disease wikiPageWikiLink Gordon_Norrie.
- Norrie_disease wikiPageWikiLink Heredity.
- Norrie_disease wikiPageWikiLink Histology.
- Norrie_disease wikiPageWikiLink Human_eye.
- Norrie_disease wikiPageWikiLink Hyperplasia.
- Norrie_disease wikiPageWikiLink Hypoplasia.
- Norrie_disease wikiPageWikiLink Infant.
- Norrie_disease wikiPageWikiLink Inner_ear.
- Norrie_disease wikiPageWikiLink Intellectual_disability.
- Norrie_disease wikiPageWikiLink Intraocular_pressure.
- Norrie_disease wikiPageWikiLink Iris_(anatomy).
- Norrie_disease wikiPageWikiLink Lens_(anatomy).
- Norrie_disease wikiPageWikiLink Leukocoria.
- Norrie_disease wikiPageWikiLink Magnetic_resonance_imaging.
- Norrie_disease wikiPageWikiLink Monoamine_oxidase.
- Norrie_disease wikiPageWikiLink Mutation.
- Norrie_disease wikiPageWikiLink Necrosis.
- Norrie_disease wikiPageWikiLink Neuroglia.
- Norrie_disease wikiPageWikiLink Norrin.
- Norrie_disease wikiPageWikiLink Ophthalmology.
- Norrie_disease wikiPageWikiLink Patau_syndrome.
- Norrie_disease wikiPageWikiLink Persistent_hyperplastic_primary_vitreous.
- Norrie_disease wikiPageWikiLink Phthisis_bulbi.
- Norrie_disease wikiPageWikiLink Posterior_chamber_of_eyeball.
- Norrie_disease wikiPageWikiLink Prenatal_development.
- Norrie_disease wikiPageWikiLink Pupil.
- Norrie_disease wikiPageWikiLink Pupillary_reflex.
- Norrie_disease wikiPageWikiLink Retinal_detachment.
- Norrie_disease wikiPageWikiLink Retinal_dysplasia.
- Norrie_disease wikiPageWikiLink Retinoblastoma.
- Norrie_disease wikiPageWikiLink Sensorineural_hearing_loss.
- Norrie_disease wikiPageWikiLink Spinocerebellar_ataxia.
- Norrie_disease wikiPageWikiLink Submicroscopic.
- Norrie_disease wikiPageWikiLink Visual_impairment.
- Norrie_disease wikiPageWikiLink Walker–Warburg_syndrome.
- Norrie_disease wikiPageWikiLink X-inactivation.
- Norrie_disease wikiPageWikiLink X-linked_recessive_inheritance.
- Norrie_disease wikiPageWikiLink File:X-linked_recessive.svg.
- Norrie_disease wikiPageWikiLinkText "Norrie disease".
- Norrie_disease diseasesdb "31165".
- Norrie_disease icd "743.8".
- Norrie_disease icd "Q15.8".
- Norrie_disease name "Norrie disease".
- Norrie_disease omim "310600".
- Norrie_disease wikiPageUsesTemplate Template:Congenital_malformations_and_deformations_of_eye.
- Norrie_disease wikiPageUsesTemplate Template:Infobox_disease.
- Norrie_disease wikiPageUsesTemplate Template:Reflist.
- Norrie_disease wikiPageUsesTemplate Template:X-linked_disorders.
- Norrie_disease subject Category:Blindness.
- Norrie_disease subject Category:Congenital_disorders_of_eyes.
- Norrie_disease subject Category:Genetic_disorders.
- Norrie_disease subject Category:X-linked_recessive_disorders.
- Norrie_disease hypernym Disorder.
- Norrie_disease type Disease.
- Norrie_disease type Disorder.
- Norrie_disease type Thing.
- Norrie_disease type Q12136.
- Norrie_disease comment "Norrie disease is a genetic disorder that primarily affects the eye and almost always leads to blindness.".
- Norrie_disease label "Norrie disease".
- Norrie_disease sameAs Q1415842.
- Norrie_disease sameAs Norrie-Syndrom.
- Norrie_disease sameAs Enfermedad_de_Norrie.
- Norrie_disease sameAs Norrien_tauti.
- Norrie_disease sameAs Sindrome_di_Norrie.
- Norrie_disease sameAs m.06b03_.
- Norrie_disease sameAs Q1415842.
- Norrie_disease wasDerivedFrom Norrie_disease?oldid=700279531.
- Norrie_disease depiction X-linked_recessive.svg.
- Norrie_disease isPrimaryTopicOf Norrie_disease.
- Norrie_disease name "Norrie disease".