41. OCRL oculocerebrorenal syndrome of Lowe. Gene symbol OCRL. Phenotype, Nucleotide substitutions,Microlesions, Gross lesions. Lowe oculocerebrorenal syndrome, 42, 25, 6. http://archive.uwcm.ac.uk/uwcm/mg/search/119461.html

Oculocerebrorenal syndrome of Lowe Gene symbol : OCRL Location : Xq Mutations in this gene were first reported in 1993 Leahey (1993) Hum Mol Genet Number of entries by mutation type Click on the respective mutation type to view detailed information about the mutations as logged in HGMD. Mutation type Total number of mutations Nucleotide substitutions (missense / nonsense) Nucleotide substitutions (splicing) Nucleotide substitutions (regulatory) Small deletions Small insertions Small indels Gross deletions Complex rearrangements (including inversions) Repeat variations TOTAL Number of entries by phenotype Phenotype Nucleotide substitutions Micro-lesions Gross lesions Lowe oculocerebrorenal syndrome Clicking on the respective phenotype will start a search for that item at the OMIM web site. As HGMD only records the first literature report of a mutation, the possibility that reported mutations may be responsible for more than one disease state cannot be ruled out. Associated data - Mutation map cDNA sequence HGMD options - HGMD search HGMD help HGMD home External sites - OMIM entry for OCRL GDB entry for OCRL GenAtlas entry for OCRL Nomenclature entry for OCRL ... Lowe syndrome mutation database HGMD

42. AtHIV.com: HIV Related Search Engine General HIV (MESH 1998 © NLM) Neurogenic Bladder oculocerebrorenal syndrome -Oligospermia - Oliguria - Orchitis - Paraphimosis - Penile Induration - Penile http://www.athiv.com/hiv/index2.php3

Global Search Add Url Free Medline Contact Us ... Conferences Bookmark this page for your Future Medline/Internet Searches Try the Medline Search Designed for HIV With FAST results HIV Internet Search Medline Search Designed for HIV Enter Keyword to search help Or And Match entire phrase Enter Keyword to search help Common Terminology Premier HIV Sites General HIV (MESH 1998 © NLM) Acidosis AIDS-Associated Nephropathy Albuminuria ... Nephrotic Syndrome General HIV (MESH 1998 © NLM) Neurogenic Bladder Oculocerebrorenal Syndrome Oligospermia ... HIV

43. Alphabetical Topic Index (AZ) Jump To A B C D E F G H I J K L M Ochronosis Ocular Hypotension Ocular Hypotension Ocular Motility Disorders OcularMotility Disorders oculocerebrorenal syndrome oculocerebrorenal syndrome http://www.uscuh.com/apps/Intermap/topiclist/SectionO.html

Alphabetical Topic Index (A-Z): Jump To: A B C D ... Ov O Ob Obesity Obesity Overview Obesity, Morbid Obesity, Morbid Obsessive-Compulsive Disorders Obsessive-Compulsive Disorders Obstetrics Gestational Diabetes Ectopic Pregnancy Bottle Feeding Your Infant All About Breast-Feeding ... Back To Top ^ Oc Ochronosis Ochronosis Ocular Hypotension Ocular Hypotension Ocular Motility Disorders Ocular Motility Disorders Oculocerebrorenal Syndrome Oculocerebrorenal Syndrome Oculomotor Nerve Diseases Oculomotor Nerve Diseases Back To Top ^ Od Odontodysplasia Odontodysplasia Odontogenic Cyst Nonodontogenic Cysts Odontogenic Cyst, Calcifying Odontogenic Cyst, Calcifying Odontoma Odontoma Back To Top ^ Ol Olfaction Disorders Olfaction Disorders Oligodendroglioma Oligodendroglioma Oligohydramnios Oligohydramnios Oligomenorrhea Oligomenorrhea Oligospermia Oligospermia Oliguria Oliguria Olivopontocerebellar Atrophies Olivopontocerebellar Atrophies Back To Top ^ On Onchocerciasis, Ocular Onchocerciasis, Ocular Oncology AIDS-Related Lymphoma Breast Cancer Overview And Evaluation Stage Breast Cancer Stages I And II And IIIA Breast Cancer ... Localized Cervical Cancer Treatment Onychomycosis Onychomycosis Back To Top ^ Oo Oophoritis Oophoritis Back To Top ^ Op Open Bite Open Bite Ophthalmia Neonatorum Ophthalmia Neonatorum Ophthalmia, Sympathetic

44. AtUrology: Urology Resources Search Engine General Urology (MESH 1998 © NLM) Neurogenic Bladder oculocerebrorenal syndrome- Oligospermia - Oliguria - Orchitis - Paraphimosis - Penile Induration http://www.aturology.com/urology/index2.php3

Global Search Add Url Free Medline Contact Us ... Conferences Bookmark this page for your Future Medline/Internet Searches Try the Medline Search Designed for Urology With FAST results Urology Internet Search Medline Search Designed for Urology Enter Keyword to search help Or And Match entire phrase Enter Keyword to search help Common Terminology Premier Urology Sites General Urology (MESH 1998 © NLM) Acidosis AIDS-Associated Nephropathy Albuminuria ... Nephrotic Syndrome General Urology (MESH 1998 © NLM) Neurogenic Bladder Oculocerebrorenal Syndrome Oligospermia ... Urology

45. AtSurgery: Surgery Resources Search Engine General Surgery (MESH 1998 © NLM) Neurogenic Bladder oculocerebrorenal syndrome- Oligospermia - Oliguria - Orchitis - Paraphimosis - Penile Induration http://www.atsurgery.com/surgery/index2.php3

Global Search Add Url Free Medline Contact Us ... Conferences Bookmark this page for your Future Medline/Internet Searches Try the Medline Search Designed for Surgery With FAST results Surgery Internet Search Medline Search Designed for Surgery Enter Keyword to search help Or And Match entire phrase Enter Keyword to search help Common Terminology General Surgery (MESH 1998 © NLM) Acidosis AIDS-Associated Nephropathy Albuminuria ... Nephrotic Syndrome General Surgery (MESH 1998 © NLM) Neurogenic Bladder Oculocerebrorenal Syndrome Oligospermia ... Surgery

46. Diagnosis - Hypotrichosis Table LouisBar syndrome, Ataxia telangiectasia, 208900. Lowe syndrome, Oculocerebrorenalsyndrome, 309000. Marasmus, oculocerebrorenal syndrome, Lowe syndrome, 309000. http://www.keratin.com/ab/ab005.shtml

hypotrichosis table Home Forums Privacy Advertising ... Home On this page... Introduction List of disorders involving a lack of hair growth (hypotrichosis) as a primary symptom List of disorders involving a lack of hair growth (hypotrichosis) as a secondary symptom Introduction The tables below records disorders known to involve hypotrichosis. The first table lists disorders where hypotrichosis is a primary symptom. The second table lists disorders where hypotrichosis can be one of several symptoms. Typically the other symptoms are of greater concern and health or life threatening. Many of these conditions involving hypotrichosis as a secondary symptom are ectodermal dysplasias. The clinical distinction between alopecia and hypotrichosis is that alopecia involves hair growth that is later lost. Hypotrichosis is a lack of any hair growth. The distinction between alopecia and hypotrichosis is not clear cut for many disorders. Some dermatologists will disagree with my listing. You may find some disorders in both the alopecia and hypotrichosis listings. This is not necessarily a complete list of disorders involving hypotrichosis. Links to relevant web pages on the Online Mendelian Inheritance in Man (OMIM) web database are also given where possible.

47. Lowes Syndrom - Små Och Mindre Kända Handikappgrupper Litteratur. Chamas LR, Gahl WA. The oculocerebrorenal syndrome of Lowe. CharnasLR, Nussbaum R. The oculocerebrorenal syndrome of Lowe (Lowe Syndrome). http://www.sos.se/smkh/2000-29-123/2000-29-123.htm

Socialstyrelsen 106 30 Stockholm e-post Socialstyrelsen klassificerar sin utgivning i olika dokumenttyper Lowes syndrom Oculo-cerebro-renalt syndrom Sjukdom/skada/diagnos Orsak till sjukdomen/skadan Symtom Diagnostik ... Databasreferenser Dokumentdatum: 2000-11-01 HTML-version 1.1 Socialstyrelsen Detta är ett utdrag ur Socialstyrelsens kunskapsdatabas om små och mindre kända handikappgrupper. Med små och mindre kända handikappgrupper avses ovanliga sjukdomar/skador som leder till omfattande funktionshinder och som finns hos högst 100 personer per miljon invånare. Syftet med databasen är att ge aktuell information om små och mindre kända handikappgrupper och om det stöd och den service som dessa grupper behöver. För ytterligare information om aktuell diagnos hänvisas till informationsmaterial, litteratur och databaser som anges under resp diagnos. Sjukdom/skada/diagnos Orsak till sjukdomen/skadan Symtom Diagnostik Epilepsin behandlas med anti-epileptisk medicin. Praktiska tips Resurspersoner Kurser, erfarenhetsutbyte, rekreation info@lowesyndrome.org

48. Willkommen Bei Medianovo Translate this page Anzeigen, Okulozerebrorenales Syndrom, oculocerebrorenal syndrome,1. Anzeigen, Okulozerebrorenales Syndrom, oculocerebrorenal syndrome,1. http://www.medianovo.com/media_66/suche_mesh_Al.asp?sel=O

49. UK Lowe Syndrome Trust The research is entitled Synthetic receptors for inositol phosphates a noveldiagnostic tool for the oculocerebrorenal syndrome of Lowe by Dr Ramon Vilar http://www.lowetrust.com/research_grants.shtml

registered charity no 1081241 Home Donations Research Grants About the LST ... Contact LST awards £50,000 to Imperial College London for a 3 year research grant The Lowe Syndrome Trust (LST) is very excited about two grants awarded in the UK in 2002. In December a major award of £50,000 over 3 years was made to the Department of Chemistry, Imperial College London to support a Phd studentship to research a chemical test for the OCRL enzyme. The research is entitled "Synthetic receptors for inositol phosphates: a novel diagnostic tool for the oculocerebrorenal syndrome of Lowe" by Dr Ramon Vilar-Compte and Dr Rudiger Woscholski. In June 2002 a grant of £9000 was made to support a Kidney Research Project at Gt Ormond Street Hospital/ICH London, headed by Dr Van't Hoff, Robert Unwin and Guido Laube, to whom Lowe Syndrome patients have donated urine samples so that OCRL kidney cells can be cultured and also made available for other research projects. The research is entitled “ An investigation of intracellular metabolism in renal proximal tubular cells from patients with LOWE-Syndrome”. LSA awards $60,000 for two research grants.

50. UK Lowe Syndrome Trust biphosphate, 5 phosphatase. Lowe's oculocerebrorenal syndrome is adisorder affecting the brain, eye and kidney. Research funds are http://www.lowetrust.com/research_uk.shtml

registered charity no 1081241 Home Donations Research Grants About the LST ... Contact Call For Research Proposal In Lowe Syndrome You are invited to apply for research funding from the Lowe Syndrome Trust. Research applications will be also be referred to the local Lowe Syndrome funding sources. USA and North American applications may also be made the Lowe Syndrome Association USA. Lowe Syndrome is caused by a defective gene that results in the deficiency of an enzyme OCRL1 Phosphatidylinositol 4,5-biphosphate, 5 phosphatase. Lowe's oculocerebrorenal syndrome is a disorder affecting the brain, eye and kidney. Research funds are available (£50,000 in the first instance) for funding a research studentship or assistant to (i) establish a data bank of Lowe Syndrome patients worldwide or (ii) to investigate how the enzyme deficiency leads to malfunction in these specific organs. The closing date for applications is 2nd May 2003 Please Email the details of the proposed research proposal using the word.doc form below. For further information please contact Lorraine Thomas

51. Renal Disease Preoperative Care Oxidase deficiency; oculocerebrorenal syndrome of Lowe. Acquired formMultiple Myeloma; Nephrotic Syndrome; Chronic tubulointerstitial http://www.fpnotebook.com/REN127.htm

Home About Links Index ... Editor's Choice Paid Advertisement (click above). Please see the privacy statement Nephrology Surgery Failure Renal Disease Preoperative Care Renal Disease Preoperative Care Preoperative Evaluation in Kidney Disease Book Home Page Cardiovascular Medicine Dental Dermatology Emergency Medicine Endocrinology Gastroenterology General Medicine Geriatric Medicine Gynecology Hematology and Oncology HIV Infectious Disease Jokes Laboratory Neonatology Nephrology Neurology Obstetrics Ophthalmology Orthopedics Otolaryngology Pediatrics Pharmacology Prevention Psychiatry Pulmonology Radiology Rheumatology Sports Medicine Surgery Urology Chapter Nephrology Index Acid and Base Disorders Calcium Chloride Cardiovascular Medicine Dermatology Edema Endocrinology Examination Failure Glomerulus Laboratory General Pulmonology Magnesium Neurology Pharmacology Phosphorus Potassium Radiology Sodium Surgery Tubule Page Surgery Index Failure Diagnostics (Preooperative) Chemistry panel (repeat within 3 hours of surgery) Complete Blood Count Other tests to consider Arterial Blood Gas Bleeding Time (if suspect uremic bleeding risk) Special concerns in renal falure Hyperkalemia Serum Potassium Consider avoiding general anesthesia Consider Hyperkalemia Management Metabolic Acidosis Reduces Local Anesthesia effect Bleeding risk Decrease Uremia (dialysis on day prior to surgery) Correct Bleeding Time s over 10 minutes Avoid surgery within 12 hours of Heparin ized dialysis Avoid antiplatelet agents within 72 hours of surgery Aspirin Dipyridamole Persantine Avoid other agents with increased bleeding risk

52. MEDLINEplus Medical Encyclopedia: Fanconi’s Syndrome Lowe's disease (oculocerebrorenal syndrome), a rare genetic disorder ofthe eyes, brain, and kidneys, can also cause Fanconi's syndrome. http://www.nlm.nih.gov/medlineplus/ency/article/000333.htm

Skip navigation Medical Encyclopedia Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk ... Z Fanconi’s syndrome Contents of this page: Illustrations Alternative names Definition Causes, incidence, and risk factors ... Calling your health care provider Illustrations Kidney anatomy Alternative names Return to top De Toni-Fanconi syndrome Definition Return to top Fanconi's syndrome is an impairment in proximal tubular function of the kidney. This impairment causes certain compounds, which should be absorbed back into the bloodstream by the kidneys, to be excreted in the urine instead. Some compounds that may be lost in the urine include glucose, amino acids, uric acid, and phosphate. Loss of these compounds can cause problems, such as growth failure, decreased bone mineralization (rickets), and abnormal bone mineralization (osteomalacia). Type two renal tubular acidosis (RTA) occurs when too much bicarbonate is excreted in the urine, causing excess acid in the blood (acidosis). Another problem that may result is dehydration caused by excess urination. Causes, incidence, and risk factors

53. Brusa-Torricelli Syndrome (www.whonamedit.com) tumour syndrome AniridiaWilms' tumor association Miller’s syndrome (RW Miller)Synonyms Aniridia-nephroblastoma syndrome, oculocerebrorenal syndrome. http://www.whonamedit.com/synd.cfm/2404.html

Home List categories Eponyms A-Z Biographies by country ... Contact Brusa-Torricelli syndrome Also known as: Aniridia-Wilms’ tumour syndrome Aniridia-Wilms' tumor association Miller’s syndrome (R. W. Miller) Synonyms: Aniridia-nephroblastoma syndrome, oculocerebrorenal syndrome. Associated persons: P. Brusa R. W. Miller C. Torricelli Max Wilms Description: A congenital syndrome in which aniridia (congenital absence of the iris) and nephroblastoma (Wilms' tumour) is associated with mental retardation, craniofacial defects (microcephaly), growth retardation and skeletal anomalies, deformed pinna, genitourinary anomalies, hamartomas, and umbilical and inguinal hernias. Other frequent features include cataract and glycoma, hypospadias, hemihypertrophy, and horseshoe kidney. The syndrome affects both sexes but is more frequent in males. Bibliography: P. Brusa, C. Torricelli: Nefroblastoma di Wilms ed affezioni renali congenite nelle casistiche dell’ IIPAI di Milano. Minerva pediatrica, Torino, 1953, 5: 457-463. R. W. Miller, J. F. Fraumeni, M. D. Manning:

54. Slide SubGrids Gene id NM_002592 name Homo sapiens proliferating cell nuclear antigen (PCNA)mRNA, Gene id T63686 name oculocerebrorenal syndrome (lowe syndrome), Gene id http://www3.mdanderson.org/depts/cancergenomics/Designs/CG4_1_B_3_2_3.html

Slide SubGrids CG4 Named Genes Grid B 3 a b c d e f g h i j *note: Point at a spot to see the GenBank accession number. Click to connect to GenBank at NIH. Grid

55. BLASTX+BEAUTY Search Results 789 to_Entrez to_Related to_Related gi 4160528 gnl PID e1371023 (AL022162) dJ454M7.1.1(Lowe oculocerebrorenal syndrome protein OCRL1) (isoform 1) Homo http://medsfgh.ucsf.edu/id/CpDemoProj/BlastxResults/Plate003/500003A12.x2.beauty

Content-type: text/html BLASTX+BEAUTY Search Results BLAST search performed using the National Center for Biotechnology Information's BLAST WWW Server BEAUTY post-processing provided by the Human Genome Center, Baylor College of Medicine BEAUTY Reference: Kim C. Worley, Brent A. Wiese, and Randall F. Smith (1995). BEAUTY an enhanced BLAST-based search tool that integrates multiple biological information resources into sequence similarity search results. Genome Research RepeatMasker repeats found in sequence: No Repeats Found. BLASTX 1.4.11 [24-Nov-97] [Build 24-Nov-97] Reference: Gish, Warren and David J. States (1993). Identification of protein coding regions by database similarity search. Nat. Genet. 3:266-72. Altschul, Stephen F., Warren Gish, Webb Miller, Eugene W. Myers, and David J. Lipman (1990). Basic local alignment search tool. J. Mol. Biol. 215:403-10. Notice: statistical significance is estimated under the assumption that the equivalent of one entire reading frame in the query sequence codes for protein and that significant alignments will involve only coding reading frames. Query= 500003A12.x2 (692 letters) Translating both strands of query sequence in all 6 reading frames

56. WebMD - Hypopigmentation nord Oculocerebrocutaneous Syndrome nord Oculocerebrorenal Dystrophynord oculocerebrorenal syndrome nord Oculocraniosomatic Syndrome http://my.webmd.com/content/healthwise/84/20816.htm

WebMD Today Home WebMD Newscenter Member Services WebMD University My WebMD Find a Doctor, Clinic Medical Info Check Symptoms Medical Library Quizzes, Calculators Clinical Trials ... Family Genetics Who We Are About WebMD Health Mall Sponsored: Lose Lbs Naturally Heart Failure? Trouble Focusing? You are in Medical Library Choose a Topic Our Content Sources Health Guide A-Z Ask A Question Clinical Trials Health Topics Symptoms Medical Tests Wellness ... Support Organizations Search the Help All Topics Click a letter to see a list of topics beginning with that letter A B C D ... OX O- O-Anon - Overweight [shc] back to top OA OASIS (Online Asperger Syndrome Information and Support) - Autism / Asperger Syndrome [shc] OAV Spectrum [nord] back to top OB Obesity [major-topic] Objects in the Ear [symptom-topic] Objects in the eye [symptom-topic] Objects in the Eye [symptom-topic] ... back to top OC OC and Spectrum Disorders Association - Obsessive-Compulsive Disorder (OCD) [shc] OCC Syndrome [nord] Occlusive Peripheral Vascular Disease [nord] Occlusive Thromboaortopathy [nord] ... back to top OD ODD Syndrome [nord] ODOD [nord] Odontogenic Tumor [nord] Odor (Body / Breath) [shc] ... back to top OF OFD Syndrome [nord] Office Ergonomics [special-topic] Office for Civil Rights - Discrimination Helpline [shc] Office on Smoking and Health - Mental Health Helpline [shc] ... back to top OG OGTT (Oral Glucose Tolerance Test) [medical-test-topic] back to top OI OI [nord] back to top OL Old Age Pemphigus [nord] Old Forge Community Resource Center - Clearinghouse - Canada [shc] Oldfield Syndrome [nord] Oley Foundation, Inc. - Tube Feeding [shc]

57. ORPHANET® : Lowe Syndrome ORPHANET. ORPHANET database access. Lowe syndrome. Direct accessto details Alias Lowe oculocerebrorenal syndrome. Home Page. http://www.orpha.net/static/GB/lowe.html

ORPHANET database access Lowe syndrome Direct access to details Alias : Home Page

58. GASNet Anesthesiology: Contents H - L Londe. Fazio Londe Syndrome. Lowe. Lowe Syndrome (oculocerebrorenal syndrome).Lupus. System Lupus Erythematous. Lyell. Lyell Disease (Toxic Epidermal Necrolysis). http://gasnet.med.yale.edu/pediatric-syndromes/h2l_br.php

Contents H - L - pediatric syndromes - Hallerman Hallerman - Streiff Syndrome Hallervorden Hallervorden - Spatz Disease Hand Holt - Oram Syndrome (Heart - Hand Syndrome) Hand Hand - Schuller - Christian Disease (Histiocytosis X) Harlequin Ichtyosiform Erythrodermia (Harlequin fetus) Heart Holt - Oram Syndrome (Heart - Hand Syndrome) Hemochromatosis Hemochromatosis Hemolytic Uremic Syndrome Hemolytic Uremic Syndrome Henoch Henoch - Schönlein Purpura Hereditary Hereditary Angioneurotic Edema Hers Hers Disease (Type VI Glycogen Storage Disease) Higashi Chediak - Higashi Syndrome Hippel Von Hippel - Lindau Syndrome Histiocytosis Hand - Schuller - Christian Disease (Histiocytosis X) Histiocytosis Letterer - Siwe Disease (Acute Disseminated Histiocytosis) Hoffman Werdnig - Hoffman Disease Holt Holt - Oram Syndrome (Heart - Hand Syndrome) Holoprosencephaly Holoprosencephaly Homocystinuria Homocystinuria Hunter Hunter's Syndrome (Mucopolysaccharidosis Type II) Hurler Hurler Syndrome (Mucopolysaccharidosis Type I) Hutchinson Progeria (Hutchinson - Gilford Syndrome) Hypothyroidism Cretinism (Congenital Hypothyroidism) Ichtyosiform Ichtyosiform Erythrodermia (Harlequin fetus) Ivemark Ivemark Syndrome Jampel Schwartz - Jampel Syndrome Jervell Jervell and Lange - Nielsen Syndrome Jeune Jeune's Syndrome (Asphyxiating Thoracic Dystrophy) Johnson Erythema Multiforme Major (Stevens - Johnson Syndrome) Kartagener Kartagener's Syndrome (Immotile Cilia Syndrome) Kasabach Kasabach - Merritt Syndrome Kawasaki Kawasaki's Disease Ketonuria Maple Syrup Urine Disease (Branched Chain Ketonuria) King

59. UNSW Embryology-OMIM Glaucoma List DEFECT AND SENSORINEURAL HEARING LOSS *603221 MYOPIA 3; MYP3 106220 ANIRIDIA ANDABSENT PATELLA *309000 LOWE oculocerebrorenal syndrome; OCRL *123580 CRYSTALLIN http://anatomy.med.unsw.edu.au/cbl/embryo/OMIMfind/nerve/glaucomalist.htm

UNSW Embryology DEVELOPMENT OF NEURAL SYSTEM Embryology Home Page Glaucoma List Select Entry from OMIM Online Mendelian Inheritance in Man (Internet Link) This page is for computers without external internet access. Back to UNSW Embryology- Neural Notes Select Entries from OMIM Online Mendelian Inheritance in Man 101 entries found, searching for "glaucoma" GLAUCOMA 1, OPEN ANGLE, A; GLC1A GLAUCOMA 1, OPEN ANGLE, B; GLC1B GLAUCOMA 3, PRIMARY INFANTILE, A; GLC3A GLAUCOMA-RELATED PIGMENT DISPERSION SYNDROME; GPDS1 GLAUCOMA 1, OPEN ANGLE, E; GLC1E GLAUCOMA 3, PRIMARY INFANTILE, B; GLC3B GLAUCOMA 1, OPEN ANGLE, D; GLC1D GLAUCOMA 1, OPEN ANGLE, F; GLC1F ACKERMAN SYNDROME IRIDOGONIODYSGENESIS, TYPE 1; IRID1 IRIDOGONIODYSGENESIS, TYPE 2; IRID2 GLAUCOMA, JUVENILE SPASTIC PARESIS, GLAUCOMA, AND MENTAL RETARDATION GLAUCOMA 1, OPEN ANGLE, C; GLC1C DYSSEGMENTAL DYSPLASIA WITH GLAUCOMA TETRALOGY OF FALLOT AND GLAUCOMA GLAUCOMA WITH ELEVATED EPISCLERAL VENOUS PRESSURE GLAUCOMA AND SLEEP APNEA GLAUCOMA-LENS ECTOPIA-MICROSPHEROPHAKIA-STIFFNESS-SHORTNESS SYNDROME; GEMSS

60. UNSW Embryology-OMIM Muscular Dystrophy List TYPE 1; MRX1 *275630 TRIGLYCERIDE STORAGE DISEASE WITH IMPAIRED LONGCHAIN FATTYACID OXIDATION *309000 LOWE oculocerebrorenal syndrome; OCRL *600308 AQUAPORIN http://anatomy.med.unsw.edu.au/cbl/embryo/OMIMfind/skmus/OMIM-dystophy_list.htm

UNSW Embryology MUSCULOSKELETAL DEVELOPMENT Embryology Home Page Select Entries from OMIM Online Mendelian Inheritance in Man (Internet Link) This page is for computers without external internet access. Internet access computers can see the full description of the abnormality from the links below. Back to UNSW Embryology-Musculoskeletal Notes 186 entries found, searching for " muscular dystrophy MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC PROGRESSIVE, DUCHENNE AND BECKER TYPES FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1A; FSHMD1A FUKUYAMA CONGENITAL MUSCULAR DYSTROPHY; FCMD MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A; LGMD2A EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT; EDMD2 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C; LGMD2C EMERY-DREIFUSS MUSCULAR DYSTROPHY SARCOGLYCAN, ALPHA; SGCA

A  B  C  D  E  F  G  H  I  J  K  L  M  N  O  P  Q  R  S  T  U  V  W  X  Y  Z

Page 3     41-60 of 99    Back | 1  | 2  | 3  | 4  | 5  | Next 20