Aniridia Cerebellar Ataxia Mental Deficiency marinescosjogren syndrome is a rare inherited disorder that is characterized by impaired coordination of voluntary movement due to underdevelopment (hypoplasia http://www.bchealthguide.org/kbase/nord/nord1045.htm
Extractions: It is possible that the main title of the report is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Information on the following diseases can be found in the Related Disorders section of this report: Aniridia-Cerebellar Ataxia-Mental Deficiency, also known as Gillespie Syndrome, is an extremely rare inherited disorder that is characterized by partial absence (aplasia) of the colored portion (iris) of the eye (Partial Aniridia), impaired coordination of voluntary movements due to underdevelopment (hypoplasia) of the brain's cerebellum (cerebellar ataxia), and mental retardation. Many affected individuals also exhibit a delay in the acquisition of skills requiring coordination of muscular and mental activity (psychomotor retardation). Aniridia-Cerebellar Ataxia-Mental Deficiency is believed to be inherited as an autosomal recessive genetic trait.
Genetic, Metabolic And Mitochondrial Disorders s. Neurotransmitter Diseases. Prader-Willi Syndrome. Rett Syndrome. LandauKleffner Syndrome. marinesco-sjogren syndrome. Mitochondrial Disease http://www.apraxia-kids.org/links/linksgenetic.html
Extractions: "abnormal synthesis of sugar groups that are parts of glycoproteins ("sugarproteins"). The current identified types of CDG are Type 1a, 1b, 1c, 1d, 1e and IIa. Many children with CDG have serious life threatening medical problems during their infancy. Children and adults with CDG type 1a have varying degrees of disabilities including cognitive impairment, speech difficulties, poor balance and motor skills, some walk with support, many are in wheelchairs."-CDG Family Network
:: Ez2Find :: Spinocerebellar Degenerations marinescosjogren syndrome - Site Info - Translate - Open New Window Information and a support group for families affected with this syndrome, a rare http://ez2find.com/cgi-bin/directory/meta/search.pl/Health/Conditions_and_Diseas
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:: Ez2Find :: M 4) Malnutrition (8) Malta Fever (11) Mannosidosis (2) Marburg (4) Marfan Syndrome (37) MarieSainton Disease (4) marinesco-sjogren syndrome (5) Master s http://ez2find.com/cgi-bin/directory/meta/search.pl/Health/Conditions_and_Diseas
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Health Library - Marinesco Sjogren Syndrome. None. General Discussion. marinescosjogren syndrome is a rare disorder that is inherited through autosomal recessive genes. http://hvlib.integris-health.com/Library/HealthGuide/IllnessConditions/topic.asp
EnableNet - Enablenet.browse.browse Dis Multiple Disabilities marinescosjogren syndrome marinesco-sjogren syndrome Matching Resources. Records 1-1 of 1 http://www.enable.net.au/index.cfm?fuseaction=enablenet.browse.browse&catid=2819
HUM-MOLGEN DIAGnostics/Clinical Research HUMMOLGEN DIAGnostics/Clinical Research. 9/10/96. marinesco-sjogren syndrome/PT request. dear sir. our daughter of 3,5 has a form of http://www.hum-molgen.de/clinical/91096-1.html
Extractions: dear sir our daughter of 3,5 has a form of mss we want to know more about this syndrome because in Holland its very rare can you please give us somre more information in advance , many thanks Apparent patient location: Holland PLEASE REPLY DIRECTLY TO HUMAN MOLECULAR GENETICS NETWORK ( gambacorti@icil64.cilea.it
MAGIC FOUNDATION marfan.org/. marinescosjogren syndrome (MSS) Website http//www.marinesco-sjogren.org/. The Noonan Syndrome Support Group Inc. PO http://www.magicfoundation.org/resources/support.htm
Extractions: hair defects table Home Forums Privacy Advertising ... Home On this page... Introduction The tables below records disorders known to involve hair shaft defects. The first table lists disorders where hair defects are a primary symptom. The second table lists disorders where hair defects can be one of several symptoms. Typically the other symptoms are of greater concern and health/life threatening. Links to relevant web pages on the Online Mendelian Inheritance in Man (OMIM) web database are also given where possible. Where a disorder is known by more than one name, alternative names are given in the second column and the record duplicated in the first column under each respective name. Brackets around alternative disorder names indicate an indirect association, for example a subcategory of the disorder. These records are not duplicated in the first column. List of disorders involving hair fiber defects as a primary symptom Disorders with hair defects as a primary symptom Alternative names for disorder Links to OMIM web pages for disorder (where available) Allotrichia circumscripta symmetrica capillitii
Extractions: hypotrichosis table Home Forums Privacy Advertising ... Home On this page... 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.
HealthCentral - General Encyclopedia - Congenital Cataract Trisomy 13; Conradi syndrome; Ectodermal dysplasia; marinescosjogren syndrome. Note Sometimes, no cause can be identified. Prevention http://www.healthcentral.com/mhc/top/001615.cfm
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Useful Links March of Dimes Birth Defects Foundation, Marfan Syndrome National Marfan Foundation, 3285. marinescosjogren syndrome Support Website, 3438. http://www.possum.net.au/links.htm
Extractions: About Find out about the latest version of POSSUM. FAQ Frequently Asked Questions about POSSUM. Order Print an order form and send it to us. Links Discover syndrome web sites using our new list of useful links. Contact Maybe you'd like to tell us what you think about POSSUM, contribute pictures to the POSSUM database, or make some suggestions about how we can improve this website. Useful Links The information listed below is provided for informational purposes only. There is no implied endorsement by POSSUM. POSSUM does not promote or endorse participation in any specific organization. Every effort is made to ensure that the details for each entry are as current as possible. Syndrome Name POSSUM Number Aarskog Syndrome Parents Support Group (USA) Aarskog Syndrome Parents Support Group (UK) Aicardi Syndrome Foundation Alagille Syndrome Alliance ... Angelman Syndrome Foundation, Inc
Spinocerebellar Degenerations From Linkspider UK Health Directory marinescosjogren syndrome - Information and a support group for families affected with this syndrome, a rare genetic disorder characterized by ataxia http://linkspider.co.uk/Health/ConditionsandDiseases/NeurologicalDisorders/Spina
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Extractions: AIS Support Groups Network (i.e.Androgen Insensitivity syndrome) http://www.vicnet.net.au/~aissg email: aissg@primus.com.au Aniridia Network P O Box 6444 Colchester CO 3XU UK hannah@aniridia-network.net Cancer Council NSW Hereditary Cancer Registers http://www.cancercouncil.com.au/editorial.asp?pageid=663 CLIMB http://www.geneticalliance.org Genetic Interest Group http://www.gig.org.uk/linktogig.htm Genetic Support Council of WA http://geneticsupportcouncil.org.au Genetic Support Network Victoria (GSNV) www.gsnv.org.au Kidney Kids of NZ Support Group Inc P O Box 13732, Onehunga, Auckland http://www.kidneykids.org.nz
Taryn's Club Med: The Whole Kaboodle disease CJ s Page Hunter s Hope, mannosidosis (my switch!) Jenny s Journal Mark and Adam Robert s Road to Recovery marinescosjogren syndrome About Kimberly http://www.tarynsworld.org/taryn/clubmed-all.htm
FORMULAIRE INSCRIPTION RECHERCHE WWW.LACHAINETTE.COM Contacts Enfermedad seleccionada marinescosjogren syndrome Id, First name, Country, Web. 877, Colleen, USA, http//www.marinesco-sjogren.org. 1630, Patrick, FRANCE, http://www.lachainette.com/ES/ContactsPathologie.php?Action=contacter&Id=1832
FORMULAIRE INSCRIPTION RECHERCHE WWW.LACHAINETTE.COM Contacts Rare disease selected marinescosjogren syndrome Id, First name, Country, Web. 877, Colleen, USA, http//www.marinesco-sjogren.org. 1630, Patrick, FRANCE, http://www.lachainette.com/US/ContactsPathologie.php?Action=contacter&Id=1832
