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norrie syndrome - rare inherited neurodevelopmental disorder Definition for Norrie Syndrome http://ghr.nlm.nih.gov/condition=norriedisease some common symptoms blindness delayed development not gaining weight vision problems some related diagnoses 1 - 7 of 94 diagnoses intracranial arteriovenous malformations multiple sclerosis migraine intracranial tumor Factor V Leiden thrombophilia head injury transient ischemic attacks   more do i have 'Norrie Syndrome'? In addition the following diagnostic tests might be need to help verify the diagnosis: diagnostic test search results for 'norrie syndrome' 1 - 5 of 8 diagnostic tests Hearing test standard technique of representing hearing loss Norrie Syndrome and Hearing test vision tests Norrie Syndrome and vision tests Amniocentesis Norrie Syndrome and Amniocentesis Chorionic Villus Sampling (CVS) Norrie Syndrome and Chorionic Villus Sampling (CVS) Molecular Genetic Studies Norrie Syndrome and Molecular Genetic Studies Comprehensive eye exam Norrie Syndrome and Comprehensive eye exam Developmental testing Norrie Syndrome and Developmental testing speech reception threshold (SRT) Norrie Syndrome and speech reception threshold (SRT) for more please login, login is free (click to login) therapeutic procedures for 'Norrie Syndrome'? Managing or treating a diseases should always be determined by a patients health care provider. Below is a list of associated therapeutic procedures or medications for Norrie Syndrome: therapeutic procedure search results for 'norrie syndrome' 1 - 2 of 2 therapeutic procedures rankings are computer generated. please consult your health care provider. Special Education Norrie Syndrome and Special Education Speech Therapy Norrie Syndrome and Speech Therapy medications search results for 'norrie syndrome' rankings are computer generated. please consult your health care provider. web search results for norrie syndrome Web (All)  |  Treatment  |  Drugs  |  Tests  |  Research  |  Diet Results 1 - 50 - Norrie Syndrome Usher syndrome - Wikipedia, the free encyclopedia 4 Genes associated with Usher syndrome. 5 Prospects for gene therapy. 6 ... ataxia, Hurler syndrome (MPS-1), Kearns-Sayre syndrome (CPEO), Norrie syndrome, ... http://en.wikipedia.org/wiki/Usher_syndrome   en.wikipedia.org - summary Norrie disease - Genetics Home Reference Norrie disease is an inherited eye disorder that leads to ... Norrie syndrome. Norrie-Warburg syndrome. Oligophrenia microphthalmus. pseudoglioma congenita ... http://ghr.nlm.nih.gov/condition=norriedisease   ghr.nlm.nih.gov - summary NDP-Related Retinopathies -- GeneReviews -- NCBI Bookshelf ... the Norrie disease gene in patients with Norrie syndrome. Hum Mutat. ... the X chromosome explains a complex genetic syndrome dominated by Norrie disease. ... http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=norrie   www.ncbi.nlm.nih.gov - summary WebMD Health A-Z - Find reliable health and medical information on ... Find a comprehensive index of trusted health and medical information. It is your ultimate guide to ... Noonan Syndrome. Normal Menstrual Cycle ... http://www.webmd.com/a-to-z-guides/health-topics/nk-no.htm   www.webmd.com - summary Encyclopedia N-Nz on Yahoo! Health Health encyclopedia of diseases and conditions covering symptoms, definitions, ... Noonan Syndrome. Normal Menstrual Cycle. Noroviruses. Norrie Disease ... http://health.yahoo.com/ency/n/   health.yahoo.com - summary MedlinePlus: Eye Diseases Genetics Home Reference: Lowe syndrome(National Library of Medicine) Genetics Home Reference: Norrie disease(National Library of Medicine) ... http://www.nlm.nih.gov/medlineplus/eyediseases.html   www.nlm.nih.gov - summary Norrie disease - Wikipedia, the free encyclopedia Axenfeld syndrome. Other. Buphthalmos - Coloboma - Hydrophthalmos - Keratoglobus - Norrie disease ... transcarbamylase deficiency · Oculocerebrorenal syndrome ... http://en.wikipedia.org/wiki/Norrie_disease   en.wikipedia.org - summary Eye Diseases - Genetics Home Reference isolated Duane retraction syndrome. Leber hereditary optic neuropathy. Lenz microphthalmia syndrome. Lowe syndrome. Norrie disease. ocular albinism ... http://ghr.nlm.nih.gov/conditionGroup=eyediseases;jsessionid...   ghr.nlm.nih.gov - summary Anophthalmia / Microphthalmia Overview -- GeneReviews -- NCBI Bookshelf "Anophthalmia-plus" syndrome. ... Norrie disease (ND) is characterized by a ... (CHARGE syndrome), IKBKG (incontinentia pigmenti), NDP (Norrie disease), SOX2 ... http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=anophthalmia-ov   www.ncbi.nlm.nih.gov - summary Eye Diseases, Hereditary - Genetics Home Reference isolated Duane retraction syndrome. Leber hereditary optic neuropathy. Lenz microphthalmia syndrome. Norrie disease. ocular albinism. oculocutaneous albinism ... http://ghr.nlm.nih.gov/conditionGroup=eyediseaseshereditary   ghr.nlm.nih.gov - summary Aicardi Syndrome - Wikipedia Hyperlinked overview with history, epidemiology, pathophysiology, features, diagnosis, treatments, and prognosis. http://en.wikipedia.org/wiki/Aicardi_syndrome   en.wikipedia.org - summary Eyes and vision - Genetics Home Reference Anderson-Warburg syndrome see Norrie disease ... Oligophrenia microphthalmus see Norrie disease. ONCR see renal coloboma syndrome ... http://ghr.nlm.nih.gov/ghr/conditionsByCategory/show/eyesandvision   ghr.nlm.nih.gov - summary Site Map od Pedbase.org - The Pediatric Database Pedbase Site Map. Pediatric. Site Map. Resources. Contact. PEDBASE.org - The Pediatric Database. A. B. C. D. E. F. G. H. I. J. K. L. M. N. O. P. R. S. T. U. V. W. X ... http://pedbase.org/sitemap.html   pedbase.org - summary OMIM Update List for March, 1998 270400 SMITH-LEMLI-OPITZ SYNDROME. 310600 NORRIE DISEASE; NDP ... 130050 EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT ... 218800 CRIGLER-NAJJAR SYNDROME ... http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?3.1998   www.ncbi.nlm.nih.gov - summary Alport syndrome - Wikipedia, the free encyclopedia "OMIM - ALPORT SYNDROME, AUTOSOMAL DOMINANT" ... and green, but not blue) · Ocular albinism (1) · Norrie disease · Choroideremia ... http://en.wikipedia.org/wiki/Alport_syndrome   en.wikipedia.org - summary X chromosome - Conditions related to genes on the X chromosome ... Coffin-Lowry syndrome. color vision deficiency ... Norrie disease. ocular albinism. oculofaciocardiodental syndrome. Opitz G/BBB syndrome ... http://ghr.nlm.nih.gov/chromosome=X/show/Conditions   ghr.nlm.nih.gov - summary Wiskott-Aldrich syndrome - Wikipedia, the free encyclopedia Decreased levels of Wiskott-Aldrich syndrome protein and/or confirmation of a ... and green, but not blue) · Ocular albinism (1) · Norrie disease · Choroideremia ... http://en.wikipedia.org/wiki/Wiskott-Aldrich_syndrome   en.wikipedia.org - summary Search Results - Genetics Home Reference Norrie disease. Condition summary. Found in name or synonym: Anderson-Warburg syndrome ... Found: Anderson-Tawil syndrome is a disorder that causes... Related ... http://ghr.nlm.nih.gov/ghr/search?query=anderson   ghr.nlm.nih.gov - summary Zazam Sheriff Phillips syndrome - Wikipedia, the free encyclopedia Zazam Sheriff Phillips syndrome; Aniridia, lens luxation, ... Axenfeld syndrome. Other. Buphthalmos - Coloboma - Hydrophthalmos - Keratoglobus - Norrie disease ... http://en.wikipedia.org/wiki/Zazam_Sheriff_Phillips_syndrome   en.wikipedia.org - summary The molecular biology of Norrie's disease. The Norrie's disease gene has been accurately located on the short arm of the X chromosome. ... Sex Chromosome Aberrations. Syndrome. X Chromosome* PMID: ... http://www.ncbi.nlm.nih.gov/pubmed/7835440   www.ncbi.nlm.nih.gov - summary X chromosome - Genes on the X chromosome - Genetics Home Reference MID1: midline 1 (Opitz/BBB syndrome) MTM1: myotubularin 1. NDP: Norrie disease (pseudoglioma) ... WAS: Wiskott-Aldrich syndrome (eczema-thrombocytopenia) ... http://ghr.nlm.nih.gov/chromosome=X/show/Genes   ghr.nlm.nih.gov - summary Barth syndrome - Wikipedia, the free encyclopedia Barth syndrome (BTHS), also known as 3-Methylglutaconic aciduria type II, is a ... and green, but not blue) · Ocular albinism (1) · Norrie disease · Choroideremia ... http://en.wikipedia.org/wiki/Barth_syndrome   en.wikipedia.org - summary Norrie Disease - Yahoo! Health ... that the main title of the report Norrie Disease is not the name you expected. Please ... Norrie Syndrome. Disorder Subdivisions. None. General Discussion ... http://health.yahoo.com/children-resources/norrie-disease/he...   health.yahoo.com - summary OMIM Update List for October, 2005 Clinical Synopsis for 301790 ATAXIA-DEAFNESS SYNDROME, X-LINKED ... 236670 WALKER-WARBURG SYNDROME ... 310600 NORRIE DISEASE; NDP. 312750 RETT SYNDROME; RTT ... http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?10.2005   www.ncbi.nlm.nih.gov - summary Fragile X Syndrome - Wikipedia User-edited article about Fragile X Syndrome, also known as the Martin-Bell Syndrome. Includes history, causes, symptoms, diagnosis, and references. http://en.wikipedia.org/wiki/Fragile_X_syndrome   en.wikipedia.org - summary OMIM Update List for April, 2004 Clinical Synopsis for 163800 SICK SINUS SYNDROME, AUTOSOMAL DOMINANT ... 310600 NORRIE DISEASE; NDP. 601132 KINASE SUPPRESSOR OF RAS; KSR ... http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?4.2004   www.ncbi.nlm.nih.gov - summary NDP - Norrie disease (pseudoglioma) - Genetics Home Reference Norrie disease - caused by mutations in the NDP gene ... about a personal genetic disease, syndrome, or condition should consult with a ... http://ghr.nlm.nih.gov/gene=ndp   ghr.nlm.nih.gov - summary Diagnostic Categories Sandifer syndrome secondary to reflux is mentioned under Miscellaneous ... Pick type C, Norrie disease, the Prader-Willi Syndrome ( 136 ), and as an ... http://www.ncbi.nlm.nih.gov/books/bv.fcgi?indexed=google&rid...   www.ncbi.nlm.nih.gov - summary Androgen Insensitivity Syndrome - Wikipedia Hyperlinked overview discussing genetics, symptoms, complications, and more. http://en.wikipedia.org/wiki/Androgen_insensitivity_syndrome   en.wikipedia.org - summary Axenfeld syndrome - Wikipedia, the free encyclopedia Axenfeld Rieger syndrome at NIH's Office of Rare Diseases ... Axenfeld syndrome. Other. Buphthalmos - Coloboma - Hydrophthalmos - Keratoglobus - Norrie disease ... http://en.wikipedia.org/wiki/Axenfeld_syndrome   en.wikipedia.org - summary NORRIE DISEASE - Pedbase.org A syndrome of retinal malformation characterized by dysplasia of retina and ... 1994 -2007 Pedbase.org. Powered by Database of Pediatrics- NORRIE DISEASE ... http://pedbase.org/n/norrie-disease/   pedbase.org - summary Hunter syndrome - Wikipedia, the free encyclopedia Hunter syndrome, or mucopolysaccharoidosis Type II, is a lysosomal storage ... and green, but not blue) · Ocular albinism (1) · Norrie disease · Choroideremia ... http://en.wikipedia.org/wiki/Hunter_syndrome   en.wikipedia.org - summary Kallmann syndrome - Wikipedia, the free encyclopedia Kallmann syndrome was described in 1944 by Franz Josef Kallmann, a German ... and green, but not blue) · Ocular albinism (1) · Norrie disease · Choroideremia ... http://en.wikipedia.org/wiki/Kallmann_syndrome   en.wikipedia.org - summary Lesch-Nyhan syndrome - Wikipedia, the free encyclopedia For the most part, Lesch-Nyhan syndrome is first suspected when self-inflicted ... and green, but not blue) · Ocular albinism (1) · Norrie disease · Choroideremia ... http://en.wikipedia.org/wiki/Lesch-Nyhan_syndrome   en.wikipedia.org - summary OMIM Update List for November, 1999 212540 CATARACT, MICROCEPHALY, FAILURE TO THRIVE, KYPHOSCOLIOSIS SYNDROME ... 310600 NORRIE DISEASE; NDP. 600075 TATA BOX-BINDING PROTEIN; TBP ... http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?11.1999   www.ncbi.nlm.nih.gov - summary Extracellular space - Gene Category - Genetics Home Reference ... endoglin (Osler-Rendu-Weber syndrome 1) F2: coagulation factor II ... NDP: Norrie disease (pseudoglioma) PCSK9: proprotein convertase subtilisin/kexin type 9 ... http://ghr.nlm.nih.gov/ghr/genesByCategory/show/GO_0005575,GO_0044421,GO_0005615   ghr.nlm.nih.gov - summary Mutations in the Norrie disease gene. ... our experience to date in mutation identification in the Norrie disease (ND) gene. ... with a more severe neurologic syndrome.(ABSTRACT TRUNCATED AT 250 WORDS) ... http://www.ncbi.nlm.nih.gov/pubmed/7627181   www.ncbi.nlm.nih.gov - summary Neonatal Seizure, Noonan Syndrome, Otitis Media, Osteosarcoma, Night ... Pediatric Database - Neonatal Seizure, Noonan Syndrome, Otitis Media, Osteosarcoma ... 1994 -2007 Pedbase.org. Powered by Database of Pediatrics ... http://pedbase.org/n-o/   pedbase.org - summary Search Results - Genetics Home Reference Marinesco-Sjögren syndrome. Condition summary. Found in link title: Congenital cataract ... NDP: Norrie disease (pseudoglioma) Gene summary ... http://ghr.nlm.nih.gov/search?query="Cataract"   ghr.nlm.nih.gov - summary A missense point mutation (Leu13Arg) of the Norrie disease gene in a ... ... of the Norrie disease gene in a large Cuban kindred ... Polymerase Chain Reaction. Syndrome. X Chromosome* PMID: 8069314 [PubMed - indexed for MEDLINE] ... http://www.ncbi.nlm.nih.gov/pubmed/8069314   www.ncbi.nlm.nih.gov - summary Conradi-Hünermann syndrome - Wikipedia, the free encyclopedia ... dysplasia) · Polyostotic fibrous dysplasia (McCune-Albright syndrome) ... Bixler syndrome ... not blue) · Ocular albinism (1) · Norrie disease · Choroideremia ... http://en.wikipedia.org/wiki/Conradi-H%C3%BCnermann_syndrome   en.wikipedia.org - summary Search Results - Genetics Home Reference Norrie disease. Condition summary. Related classification: Eye Diseases, Hereditary ... Weill-Marchesani syndrome. Condition summary. Found in link title: Eye ... http://ghr.nlm.nih.gov/search?query="Eye+Diseases"   ghr.nlm.nih.gov - summary Search Results - Genetics Home Reference isolated Duane retraction syndrome. Condition summary ... Norrie disease. Condition summary. Related classification: Eye Diseases, Hereditary ... http://ghr.nlm.nih.gov/search?query="Eye+Diseases%2C+Hereditary"   ghr.nlm.nih.gov - summary Search Results - Genetics Home Reference Found: ...syndrome is a common form of syndromic deafness (hearing loss that ... Found: ...with Norrie disease develop progressive hearing loss, and more than ... http://ghr.nlm.nih.gov/search?query=hearing+loss&show=conditions   ghr.nlm.nih.gov - summary Hyper-IgM syndrome type 1 - Wikipedia, the free encyclopedia ... · IgG deficiency · IgM deficiency · Hyper IgM syndrome (2, 3, 4, 5) ... and green, but not blue) · Ocular albinism (1) · Norrie disease · Choroideremia ... http://en.wikipedia.org/wiki/Hyper-IgM_syndrome_type_1   en.wikipedia.org - summary OMIM Update List for February, 2009 235400 HEMOLYTIC UREMIC SYNDROME, ATYPICAL ... 214800 CHARGE SYNDROME ... 310600 NORRIE DISEASE; ND. 312180 UBIQUITIN-CONJUGATING ENZYME E2A; UBE2A ... http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?2.2009   www.ncbi.nlm.nih.gov - summary OMIM Update List for June, 1999 301000 WISKOTT-ALDRICH SYNDROME; WAS ... Clinical Synopsis for 130650 BECKWITH-WIEDEMANN SYNDROME; BWS ... 310600 NORRIE DISEASE; NDP. 312750 RETT SYNDROME; RTT ... http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?6.1999   www.ncbi.nlm.nih.gov - summary 18817988 2008 10 20 2009 01 13 0165-5876 72 11 2008 Nov Int. J. Pediatr ... Twenty years of audiology in a patient with Norrie disease. ... by the cognitive effects of the syndrome, and hearing aid use was very effective. ... http://www.ncbi.nlm.nih.gov/pubmed/18817988?dopt=Abstract   www.ncbi.nlm.nih.gov - summary Cell proliferation - Gene Category - Genetics Home Reference JAG1: jagged 1 (Alagille syndrome) KRT16: keratin 16. KRT6A: keratin 6A ... NDP: Norrie disease (pseudoglioma) NF1: neurofibromin 1. NF2: neurofibromin 2 (merlin) ... http://ghr.nlm.nih.gov/GenesByCategory/GO_0008150,GO_0009987,GO_0008283   ghr.nlm.nih.gov - summary Multicellular organismal development - Gene Category - Genetics Home ... NDP: Norrie disease (pseudoglioma) NEFH: neurofilament, heavy polypeptide. NF1: neurofibromin 1 ... TCOF1: Treacher Collins-Franceschetti syndrome 1 ... http://ghr.nlm.nih.gov/GenesByCategory/GO_0008150,GO_0032501,GO_0007275   ghr.nlm.nih.gov - summary show more 1  2