Intresseorganisation/ motsvarande E
Transcription
Intresseorganisation/ motsvarande E
Diagnos, länkad text, IOD Socialstyrelsens kunskapsdatabas Intresseorganisation/ motsvarande E-post, kontaktperson Fabrys sjukdom www.fabry.se [email protected] www.sallsyntadiagnoser.se [email protected] www.fabry.se [email protected] www.sallsyntadiagnoser.se [email protected] www.fabry.se [email protected] www.sallsyntadiagnoser.se [email protected] www.fabry.se [email protected] www.sallsyntadiagnoser.se [email protected] www.mpsforeningen.se [email protected] www.sallsyntadiagnoser.se [email protected] www.fub.se [email protected] www.mpssociety.co.uk [email protected] www.mpssociety.org [email protected] www.mpsforeningen.se [email protected] www.sallsyntadiagnoser.se [email protected] www.fub.se [email protected] www.mpssociety.co.uk [email protected] www.mpssociety.org [email protected] www.mpsforeningen.se [email protected] www.sallsyntadiagnoser.se [email protected] www.fub.se [email protected] www.mpssociety.co.uk [email protected] www.mpsscociety.org [email protected] www.mpsforeningen.se [email protected] www.sallsyntadiagnoser.se [email protected] www.fub.se [email protected] www.mpssociety.co.uk [email protected] www.mpssociety.org [email protected] www.mpsforeningen.se [email protected] www.sallsyntadiagnoser.se [email protected] www.fub.se [email protected] www.mpssociety.co.uk [email protected] www.mpssociety.org [email protected] www.hjartebarn.org [email protected] www.fub.se [email protected] www.noc.fub.se [email protected] www.hjartebarn.org [email protected] www.fub.se [email protected] www.noc.fub.se [email protected] www.fub.se [email protected] www.noc.fub.se [email protected] www.fub.se [email protected] www.noc.fub.se [email protected] www.fub.se [email protected] www.noc.fub.se [email protected] Anderson-Fabrys sjukdom Alfa galaktosidas A-brist Angiokeratoma corporporis diffusum Alfa-L-iduronidasbrist Hurlers sjukdom Hurlers-Scheies och Scheies sjukdom Mukopolysackaridos typ I (IH, IH/S, IS) MPS I (IH, IH/S, IS), 11 q deletionssyndromet Jacobsens syndrom 13 q deletionssyndromet Monosomi 13q-syndromet 18 p delationssyndromet www.chromosome18.org Monosomi 18p-syndromet www.fub.se [email protected] www.noc.fub.se [email protected] www.chromosome18.org 18q deletionssyndromet www.fub.se [email protected] www.noc.fub.se [email protected] www.autism.se [email protected] www.chromosome18.org Monosomi 18q-syndromet www.fub.se [email protected] www.noc.fub.se [email protected] www.autism.se [email protected] www.chromosome18.org 1p36 deletionssyndromet Partiell monosomi 1p36-syndromet 20p duplikationssyndromet Trisomi 20p-syndromet 22q11 deletionssyndromet DiGeorges syndrom Velokardiofacialt syndrom CATCH 22 22q13 deletionssyndromet www.fub.se [email protected] www.noc.fub.se [email protected] www.fub.se [email protected] www.noc.fub.se [email protected] www.fub.se [email protected] www.noc.fub.se [email protected] www.fub.se [email protected] www.noc.fub.se [email protected] www.22q11.se [email protected] www.sallsyntadiagnoser.se [email protected] www.hjartebarn.org [email protected] www.22q11.se [email protected] www.sallsyntadiagnoser.se [email protected] www.hjartebarn.org [email protected] www.22q11.se [email protected] www.sallsyntadiagnoser.se [email protected] www.hjartebarn.org [email protected] www.22q11.se [email protected] www.sallsyntadiagnoser.se [email protected] www.hjartebarn.org [email protected] www.fub.se [email protected] www.noc.fub.se [email protected] www.22q13.org/j15/ 22q13.3-deletionssyndromet www.fub.se [email protected] www.noc.fub.se [email protected] www.22q13.org/j15/ Phelan-McDermids syndrom www.fub.se [email protected] www.noc.fub.se [email protected] www.22q13.org/j15/ Monosomi 4p-syndromet 4p-deletionssyndromet Wolf-Hirschhorns syndrom Wolfs syndrom Monosomi 4q-syndromet 4q-deletionssyndromet Interstitiell deletion 4q Cri du chat-syndromet 5p-deletionssyndromet Trisomi 8q-syndromet 8q-duplikationssyndromet Monosomi 9p-syndromet 9p-deletionssyndromet Trisomi 9p-syndromet 9p-duplikationssyndromet Trisomi 9q-syndromet 9q-duplikationssyndromet Aarskogs syndrom Faciodigitogenitalt syndrom Faciogenitalt syndrom GM2-gangliosidos www.fub.se [email protected] www.noc.fub.se [email protected] www.fub.se [email protected] www.noc.fub.se [email protected] www.fub.se [email protected] www.noc.fub.se [email protected] www.fub.se [email protected] www.noc.fub.se [email protected] www.fub.se [email protected] www.noc.fub.se [email protected] www.fub.se [email protected] www.noc.fub.se [email protected] www.fub.se [email protected] www.noc.fub.se [email protected] www.criduchat.com [email protected] www.fub.se [email protected] www.criduchat.com [email protected] www.fub.se [email protected] www.fub.se [email protected] www.noc.fub.se [email protected] www.fub.se [email protected] www.noc.fub.se [email protected] www.fub.se [email protected] www.noc.fub.se [email protected] www.fub.se [email protected] www.noc.fub.se [email protected] www.fub.se [email protected] www.noc.fub.se [email protected] www.fub.se [email protected] www.noc.fub.se [email protected] www.fub.se [email protected] www.noc.fub.se [email protected] www.fub.se [email protected] www.noc.fub.se [email protected] Saknar förening i Sverige Saknar förening i Sverige Saknar förening i Sverige www.fub.se [email protected] www.rbu.se [email protected] Hexosaminidas A-brist Tay-Sachs sjukdom Hexosaminidas B-brist Sandhoffs sjukdom Aktivatorproteinbrist, AB-varianten Addisons sjukdom Primär binjurebarksvikt Kongenital binjurebarkshyperplasi www.ntsad.org [email protected] www.fub.se [email protected] www.rbu.se [email protected] www.ntsad.org [email protected] www.fub.se [email protected] www.rbu.se [email protected] www.ntsad.org [email protected] www.fub.se [email protected] www.rbu.se [email protected] www.ntsad.org [email protected] www.fub.se [email protected] www.rbu.se [email protected] www.ntsad.org [email protected] www.fub.se [email protected] www.rbu.se [email protected] www.ntsad.org [email protected] www.addisongruppen.se [email protected] www.hypofysis.se [email protected] www.addisongruppen.se [email protected] www.hypofysis.se [email protected] www.cah.se [email protected] www.inis-org.se [email protected] www.sallsyntadiagnoser.se [email protected] www.livingwithcah.com www.caresfoundation.org Congenital adrenal hyperplasia www.cah.se [email protected] www.inis-org.se [email protected] www.sallsyntadiagnoser.se [email protected] www.livingwithcah.com www.caresfoundation.org CAH www.cah.se [email protected] www.inis-org.se [email protected] www.sallsyntadiagnoser.se [email protected] www.livingwithcah.com www.caresfoundation.org Adrenogenitalt syndrom AGS Adrenoleukodystrofi ALD Adrenomyeloneuropati AMN Aspartylglykosaminuri www.cah.se [email protected] www.inis-org.se [email protected] www.sallsyntadiagnoser.se [email protected] www.cah.se [email protected] www.inis-org.se [email protected] www.sallsyntadiagnoser.se [email protected] Svenska Leukodystrofiföreningen (hemsida saknas) www.sallsyntadiagnoser.se [email protected] www.fub.se [email protected] www.neuroforbundet.se [email protected] www.rbu.se [email protected] www.ulf.org [email protected] Svenska Leukodystrofiföreningen (hemsida saknas) www.sallsyntadiagnoser.se [email protected] www.fub.se [email protected] www.neuroforbundet.se [email protected] www.rbu.se [email protected] www.ulf.org [email protected] Svenska Leukodystrofiföreningen (hemsida saknas) www.sallsyntadiagnoser.se [email protected] www.fub.se [email protected] www.neuroforbundet.se [email protected] www.rbu.se [email protected] www.ulf.org [email protected] Svenska Leukodystrofiföreningen (hemsida saknas) www.sallsyntadiagnoser.se [email protected] www.fub.se [email protected] www.neuroforbundet.se [email protected] www.rbu.se [email protected] www.ulf.org [email protected] Det finns ingen förening för aspartylglukosaminuri i Sverige. www.fub.se AGU Aicardis syndrom Hyper-IgM-syndromet [email protected] Det finns ingen förening för aspartylglukosaminuri i Sverige. www.fub.se [email protected] www.fub.se [email protected] www.epilepsi.se [email protected] www.pio.nu [email protected] www.esid.org www.ingid.org www.sissi.nu [email protected] www.slipi.nu CD40-liganddefekt www.pio.nu [email protected] www.esid.org www.ingid.org www.sissi.nu [email protected] www.slipi.nu Immundefekt med normalt eller högt IgM www.pio.nu [email protected] www.esid.org www.ingid.org www.sissi.nu [email protected] www.slipi.nu Akut intermittent porfyri AIP Akondroplasi Aperts syndrom Akrocefalosyndaktyli typ I Saethre-Chotzens syndrom Akrocefalosyndaktyli typ III GM2-gangliosidos Hexosaminidas A-brist Tay-Sachs sjukdom Hexosaminidas B-brist Sandhoffs sjukdom Aktivatorproteinbrist, AB-varianten Alagilles syndrom Arteriohepatisk dysplasi Osteopetros www.porfyri.se [email protected] www.sallsyntadiagnoser.se [email protected] www.porfyri.se [email protected] www.sallsyntadiagnoser.se [email protected] www.rbu.se [email protected] www.fkv.se [email protected] www.apert.se [email protected] www.sallsyntadiagnoser.se [email protected] www.kraniofaciala.se [email protected] www.rbu.se [email protected] www.apert.se [email protected] www.sallsyntadiagnoser.se [email protected] www.kraniofaciala.se [email protected] www.rbu.se [email protected] www.kraniofaciala.se [email protected] www.sallsyntadiagnoser.se [email protected] www.kraniofaciala.se [email protected] www.sallsyntadiagnoser.se [email protected] www.fub.se [email protected] www.rbu.se [email protected] www.ntsad.org [email protected] www.fub.se [email protected] www.rbu.se [email protected] www.ntsad.org [email protected] www.fub.se [email protected] www.rbu.se [email protected] www.ntsad.org [email protected] www.fub.se [email protected] www.rbu.se [email protected] www.ntsad.org [email protected] www.fub.se [email protected] www.rbu.se [email protected] www.ntsad.org [email protected] www.fub.se [email protected] www.rbu.se [email protected] www.ntsad.org [email protected] http://rfl-lever.blogspot.se/ [email protected] www.fub.se [email protected] www.srf.nu [email protected] http://rfl-lever.blogspot.se/ [email protected] www.fub.se [email protected] www.srf.nu [email protected] www.pio.nu [email protected] Albers-Schönbergs sjukdom Marmorbensjuka Albinism Alexanders sjukdom Hurlers Hurler-Scheies och Scheies sjukdom Mukopolysackaridos typ I (IH, IH/S, IS) MPS I (IH, IH/S, IS), Alfa-L-iduronidasbrist Mannosidos Alfa-mannosidasbrist Alkaptonuri Alpers sjukdom Alpers-Huttenlochers sjukdom Alports syndrom ALPS Canale-Smiths syndrom Autoimmunt lymfoproliferativt syndrom Amyotrofisk lateralskleros www.srf.nu [email protected] www.pio.nu [email protected] www.srf.nu [email protected] www.pio.nu [email protected] www.srf.nu [email protected] www.fub.se [email protected] www.mpsforeningen.se [email protected] www.sallsyntadiagnoser.se [email protected] www.fub.se [email protected] www.mpssociety.co.uk [email protected] www.mpssociety.org [email protected] www.mpsforeningen.se [email protected] www.sallsyntadiagnoser.se [email protected] www.fub.se [email protected] www.mpssociety.co.uk [email protected] www.mpssociety.org [email protected] www.mpsforeningen.se [email protected] www.sallsyntadiagnoser.se [email protected] www.fub.se [email protected] www.mpssociety.co.uk [email protected] www.mpssociety.org [email protected] www.mpsforeningen.se [email protected] www.sallsyntadiagnoser.se [email protected] www.fub.se [email protected] www.mpssociety.co.uk [email protected] www.mpssociety.org [email protected] www.mpsforeningen.se [email protected] www.sallsyntadiagnoser.se [email protected] www.fub.se [email protected] www.mpssociety.co.uk [email protected] www.mpssociety.org [email protected] www.fub.se [email protected] www.neuroforbundet.se [email protected] www.rbu.se [email protected] www.hrf.se [email protected] www.mannosidosis.org [email protected] www.fub.se [email protected] www.neuroforbundet.se [email protected] www.rbu.se [email protected] www.hrf.se [email protected] www.mannosidosis.org [email protected] www.akusociety.org [email protected] www.reumatikerforbundet.org [email protected] www.rbu.se [email protected] www.fub.se [email protected] www.neuroforbundet.se [email protected] www.umdf.org [email protected] www.rbu.se [email protected] www.fub.se [email protected] www.neuroforbundet.se [email protected] www.umdf.org [email protected] www.njurforbundet.se [email protected] www.hrf.se [email protected] www.srf.nu [email protected] www.alportsyndrome.org [email protected] www.pio.nu [email protected] www.pio.nu [email protected] www.pio.nu [email protected] www.neuroforbundet.se [email protected] www.alsa.org ALS www.neuroforbundet.se [email protected] www.alsa.org Progressiv spinal muskelatrofi www.neuroforbundet.se [email protected] www.alsa.org Progressiv bulbär pares www.neuroforbundet.se [email protected] www.alsa.org Pseudobulbär pares www.neuroforbundet.se [email protected] www.alsa.org Primär lateral skleros www.neuroforbundet.se [email protected] www.alsa.org Motorneuronsjukdom www.neuroforbundet.se [email protected] www.alsa.org Alströms syndrom www.dhb.se [email protected] www.hrf.se [email protected] www.sdr.org [email protected] www.srf.nu [email protected] www.retina-sweden.se [email protected] www.diabetes.se [email protected] www.alstrom.org www.rareconnect.org Alström-Hallgrens syndrom www.fsdb.org [email protected] www.dhb.se [email protected] www.hrf.se [email protected] www.sdr.org [email protected] www.srf.nu [email protected] www.retina-sweden.se [email protected] www.diabetes.se [email protected] www.alstrom.org www.rareconnect.org AMN Analatresi Anorektal missbildning Androgenokänslighetssyndromet Androgen insensitivity syndrome AIS Okänslighet för manligt könshormon Testikulär feminisering Angelmans syndrom Hypohidrotisk ektodermal dysplasi Anhidrotisk ektodermal dysplasi Ektodermal dysplasi Christ-Siemens-Touraines syndrom Kongenital aniridi Medfödd aniridi Aniridi www.ilco.nu [email protected] www.vacterl.com [email protected] www.magotarm.se [email protected] www.ilco.nu [email protected] www.vacterl.com [email protected] www.magotarm.se [email protected] www.inis-org.se [email protected] www.inis-org.se [email protected] www.inis-org.se [email protected] www.inis-org.se [email protected] www.inis-org.se [email protected] Angelmans Syndrom Föräldraförening (ASF). [email protected] www.fub.se [email protected] www.autism.se [email protected] www.epilepsi.se [email protected] www.svenskaed.se [email protected] www.sallsyntadiagnoser.se [email protected] www.nfed.org [email protected] www.svenskaed.se [email protected] www.sallsyntadiagnoser.se [email protected] www.nfed.org [email protected] www.svenskaed.se [email protected] www.sallsyntadiagnoser.se [email protected] www.nfed.org [email protected] www.svenskaed.se [email protected] www.sallsyntadiagnoser.se [email protected] www.nfed.org [email protected] www.aniridi.se [email protected] www.sallsyntadiagnoser.se [email protected] www.srf.nu [email protected] www.glaukomforbundet.se [email protected] www.aniridi.se [email protected] www.sallsyntadiagnoser.se [email protected] www.srf.nu [email protected] www.glaukomforbundet.se [email protected] www.aniridi.se [email protected] www.sallsyntadiagnoser.se [email protected] www.srf.nu [email protected] www.glaukomforbundet.se [email protected] Anonymous Hjärnsjukdom utan känd orsak Analatresi Anorektal missbildning Aperts syndrom Akrocefalosyndaktyli typ I Argininosuccinatlyasbrist ASL-brist Maroteaux-Lamys sjukdom Mukopolysackaridos typ VI MPS VI Arylsulfatas B-brist Chondrodysplasia punctata, X-kromosombunden recessiv Chondrodystrophia calcificans, X-kromosombunden recessiv Arylsulfatas E-brist Ataxia telangiectasia AT Louis-Bars sjukdom Axenfeld-Riegers syndrom Axenfelds anomali Riegers anomali Laurence-Moon-Bardet-Biedls syndrom www.anonymous.se [email protected] www.sallsyntadiagnoser.se [email protected] www.fub.se [email protected] www.neuroforbundet.se [email protected] www.rbu.se [email protected] www.anonymous.se [email protected] http://www.willefonden.se [email protected] www.sallsyntadiagnoser.se [email protected] www.fub.se [email protected] www.neuroforbundet.se [email protected] www.rbu.se [email protected] www.ilco.nu [email protected] www.vacterl.com [email protected] www.magotarm.se [email protected] www.ilco.nu [email protected] www.vacterl.com [email protected] www.magotarm.se [email protected] www.apert.se [email protected]
www.kraniofaciala.se [email protected] www.sallsyntadiagnoser.se [email protected] www.rbu.se [email protected] www.apert.se [email protected]
www.kraniofaciala.se [email protected] www.sallsyntadiagnoser.se [email protected] www.rbu.se [email protected] www.rfl-lever.blogspot.se [email protected] www.fub.se [email protected] www.rfl-lever.blogspot.se [email protected] www.fub.se [email protected] www.mpsforeningen.se [email protected] www.sallsyntadiagnoser.se [email protected] www.fub.se [email protected] www.mpssociety.co.uk [email protected] www.mpssociety.org [email protected] www.mpsforeningen.se [email protected] www.sallsyntadiagnoser.se [email protected] www.fub.se [email protected] www.mpssociety.co.uk [email protected] www.mpssociety.org [email protected] www.mpsforeningen.se [email protected] www.sallsyntadiagnoser.se [email protected] www.fub.se [email protected] www.mpssociety.co.uk [email protected] www.mpssociety.org [email protected] www.mpsforeningen.se [email protected] www.sallsyntadiagnoser.se [email protected] www.fub.se [email protected] www.mpssociety.co.uk [email protected] www.mpssociety.org [email protected] www.fkv.se [email protected] www.rbu.se [email protected] www.fkv.se [email protected] www.rbu.se [email protected] www.fkv.se [email protected] www.rbu.se [email protected] www.neuroforbundet.se [email protected] www.rbu.se [email protected] www.pio.nu [email protected] www.atcp.org [email protected] www.neuroforbundet.se [email protected] www.rbu.se [email protected] www.pio.nu [email protected] www.atcp.org [email protected] www.neuroforbundet.se [email protected] www.rbu.se [email protected] www.pio.nu [email protected] www.atcp.org [email protected] www.srf.nu [email protected] www.fub.se [email protected] www.srf.nu [email protected] www.fub.se [email protected] www.srf.nu [email protected] www.fub.se [email protected] www.srf.nu [email protected] Nätverk för personer med Bardet-Biedls syndrom [email protected], [email protected] www.njurforbundet.se [email protected] www.fub.se [email protected] www.lmbbs.org.uk LMBB www.srf.nu [email protected] Nätverk för personer med Bardet-Biedls syndrom [email protected], [email protected]. www.njurforbundet.se [email protected] www.fub.se [email protected] www.lmbbs.org.uk Bardet-Biedls syndrom www.srf.nu [email protected] Nätverk för personer med Bardet-Biedls syndrom [email protected], [email protected]. www.njurforbundet.se [email protected] www.fub.se [email protected] www.lmbbs.org.uk Laurence-Moons syndrom www.srf.nu [email protected] Nätverk för personer med Bardet-Biedls syndrom [email protected], [email protected]. www.njurforbundet.se [email protected] www.fub.se [email protected] www.lmbbs.org.uk Bartters syndrom och Gitelmans syndrom Primär renal tubulär hypokalemisk metabolisk alkalos Hyperprostaglandin E-syndromet Familjär hypokalemi-hypomagnesemi Blue rubber bleb nevus-syndromet Beans syndrom Beckers muskeldystrofi BMD Myotonia congenita Thomsens sjukdom Beckers myotoni Beckwith-Wiedemanns syndrom BWS Behçets sjukdom Blefarospasm Benign essentiell blefarospasm Bests vitelliforma makuladystrofi BVMD Morquios sjukdom www.njurforbundet.se [email protected] www.hrf.se [email protected] www.njurforbundet.se [email protected] www.hrf.se [email protected] www.njurforbundet.se [email protected] www.hrf.se [email protected] www.njurforbundet.se [email protected] www.hrf.se [email protected] www.magotarm.se [email protected] www.magotarm.se [email protected] www.rbu.se [email protected] www.neuroforbundet.se [email protected] www.rbu.se [email protected] www.neuroforbundet.se [email protected] www.neuroforbundet.se [email protected] www.neuroforbundet.se [email protected] www.neuroforbundet.se [email protected] www.bwssverige.se [email protected] www.sallsyntadiagnoser.se [email protected] www.bwssverige.se [email protected] www.sallsyntadiagnoser.se [email protected] www.reumatikerforbundet.org [email protected] www.neuroforbundet.se [email protected] www.srf.nu [email protected] www.dystoni.se [email protected] www.dystoni.se [email protected] www.srf.nu [email protected] www.retina-sweden.se [email protected] www.best.org.il [email protected] www.srf.nu [email protected] www.retina-sweden.se [email protected] www.best.org.il [email protected] www.mpsforeningen.se [email protected] www.sallsyntadiagnoser.se [email protected] Mukopolysackaridos typ IV MPS IV Galaktos 6-sulfatasbris Beta-galaktosidasbrist Slys sjukdom Mukopolysackaridos typ VII MPS VII Beta-glukuronidasbrist Börjeson-Forssman-Lehmanns syndrom BLFS Diamond-Blackfans anemi DBA Blackfan-Diamonds anemi Kongenital hypoplastisk anemi Blåsexstrofi Blödarsjuka (Hemofili A och B samt svår och medelsvår form av von Willebrands sjukdom) Hemofili A och B von Willebrands sjukdom (svår och medelsvår form) Brankiootorenalt syndrom BOR Brankiootorenal dysplasi Brankiootosyndromet Melnick-Frasers syndrom X-kromosombunden agammaglobulinemi www.fub.se [email protected] www.rbu.se [email protected] www.neuroforbundet.se [email protected] www.mpssociety.co.uk [email protected] www.mpssociety.org [email protected] www.mpsforeningen.se [email protected] www.sallsyntadiagnoser.se [email protected] www.fub.se [email protected] www.rbu.se [email protected] www.neuroforbundet.se [email protected] www.mpssociety.co.uk [email protected] www.mpssociety.org [email protected] www.mpsforeningen.se [email protected] www.sallsyntadiagnoser.se [email protected] www.fub.se [email protected] www.rbu.se [email protected] www.neuroforbundet.se [email protected] www.mpssociety.co.uk [email protected] www.mpssociety.org [email protected] www.mpsforeningen.se [email protected] www.sallsyntadiagnoser.se [email protected] www.fub.se [email protected] www.rbu.se [email protected] www.neuroforbundet.se [email protected] www.mpssociety.co.uk [email protected] www.mpssociety.org [email protected] www.mpsforeningen.se [email protected] www.sallsyntadiagnoser.se [email protected] www.fub.se [email protected] www.rbu.se [email protected] www.neuroforbundet.se [email protected] www.mpssociety.co.uk [email protected] www.mpssociety.org [email protected] www.mpsforeningen.se [email protected] www.sallsyntadiagnoser.se [email protected] www.fub.se [email protected] www.rbu.se [email protected] www.neuroforbundet.se [email protected] www.mpssociety.co.uk [email protected] www.mpssociety.org [email protected] www.mpsforeningen.se [email protected] www.sallsyntadiagnoser.se [email protected] www.fub.se [email protected] www.rbu.se [email protected] www.neuroforbundet.se [email protected] www.mpssociety.co.uk [email protected] www.mpssociety.org [email protected] www.mpsforeningen.se [email protected] www.sallsyntadiagnoser.se [email protected] www.fub.se [email protected] www.rbu.se [email protected] www.neuroforbundet.se [email protected] www.mpssociety.co.uk [email protected] www.mpssociety.org [email protected] www.mpsforeningen.se [email protected] www.sallsyntadiagnoser.se [email protected] www.fub.se [email protected] www.rbu.se [email protected] www.neuroforbundet.se [email protected] www.mpssociety.co.uk [email protected] www.mpssociety.org [email protected] www.fub.se [email protected] www.srf.nu [email protected] www.fub.se [email protected] www.srf.nu [email protected] Den svenska föräldragruppen för barn och ungdomar med Diamond-Blackfans anemi är inte längre aktiv [email protected] www.dbafoundation.org [email protected] www.diamondblackfan.org.uk [email protected] Den svenska föräldragruppen för barn och ungdomar med Diamond-Blackfans anemi är inte längre aktiv [email protected] www.dbafoundation.org [email protected] www.diamondblackfan.org.uk [email protected] Den svenska föräldragruppen för barn och ungdomar med Diamond-Blackfans anemi är inte längre aktiv [email protected] www.dbafoundation.org [email protected] www.diamondblackfan.org.uk. [email protected] Den svenska föräldragruppen för barn och ungdomar med Diamond-Blackfans anemi är inte längre aktiv [email protected] www.dbafoundation.org [email protected] www.diamondblackfan.org.uk [email protected] www.ilco.nu [email protected] www.bladderexstrophy.com [email protected] www.fbis.se [email protected] www.fbis.se [email protected] www.fbis.se [email protected] www.hrf.se [email protected] www.sdr.org [email protected] www.njurforbundet.se [email protected] www.hrf.se [email protected] www.sdr.org [email protected] www.njurforbundet.se [email protected] www.hrf.se [email protected] www.sdr.org [email protected] www.njurforbundet.se [email protected] www.hrf.se [email protected] www.sdr.org [email protected] www.njurforbundet.se [email protected] www.hrf.se [email protected] www.sdr.org [email protected] www.njurforbundet.se [email protected] www.pio.nu [email protected] www.slipi.nu www.sissi.nu [email protected] www.esid.org www.ingid.org Brutons sjukdom/agammaglobulinemi www.pio.nu [email protected] www.slipi.nu www.sissi.nu [email protected] www.esid.org www.ingid.org Könsbunden gammaglobulinbrist www.pio.nu [email protected] www.slipi.nu www.sissi.nu [email protected] www.esid.org www.ingid.org Könsbunden agammaglobulinemi www.pio.nu [email protected] www.slipi.nu www.sissi.nu [email protected] www.esid.org www.ingid.org Kongenital iktyos Lamellär iktyos Bullös iktyos Iktyos (kongenital) Cornelia de Langes syndrom www.iktyos.se [email protected] www.sallsyntadiagnoser.se [email protected] www.iktyos.se [email protected] www.sallsyntadiagnoser.se [email protected] www.iktyos.se [email protected] www.sallsyntadiagnoser.se [email protected] www.iktyos.se [email protected] www.sallsyntadiagnoser.se [email protected] www.fub.se [email protected] www.cdls.se [email protected] www.cdlsusa.org Brachmann-de Langes syndrom www.fub.se [email protected] www.cdls.se [email protected] www.cdlsusa.org de Langes syndrom www.fub.se [email protected] www.cdls.se [email protected] www.cdlsusa.org CADASIL Cerebral autosomal dominant arteriopati med subkortikala infarkter och leukoencefalopati Canavans leukodystrofi United Leukodystrophy Foundation (ULF) i USA www.neuroforbundet.se [email protected] www.strokeforbundet.se [email protected] www.demensforbundet.se [email protected] www.neuroforbundet.se [email protected] www.strokeforbundet.se [email protected] www.demensforbundet.se [email protected] Svenska Leukodystrofiföreningen, (hemsida saknas) www.fub.se [email protected] www.ulf.org [email protected] www.climg.org.uk www.canavanfoundation.org www.canavan.org Kryopyrinassocierade periodiska syndrom Cryopyrin associated periodic syndromes CAPS Muckle-Wells syndrom MWS Kroniskt infantilt neurologiskt hud- och ledsyndrom CINCA Systemisk multiinflammatorisk sjukdom med neonatal debut NOMID Familjärt autoinflammatoriskt köldsyndrom FCAS Kardiofaciokutant syndrom Cardiofaciocutaneous syndrome CFC Cat eye-syndromet Kongenitalt centralt hypoventilationssyndrom www.reumatikerforbundet.org/ [email protected] www.njurforbundet.se [email protected] www.pio.se [email protected] www.reumatikerforbundet.org/ [email protected] www.njurforbundet.se [email protected] www.pio.se [email protected] www.reumatikerforbundet.org/ [email protected] www.njurforbundet.se [email protected] www.pio.se [email protected] www.reumatikerforbundet.org/ [email protected] www.njurforbundet.se [email protected] www.pio.se [email protected] www.reumatikerforbundet.org/ [email protected] www.njurforbundet.se [email protected] www.pio.se [email protected] https://reumatikerforbundet.org/ [email protected] www.njurforbundet.se [email protected] www.pio.se [email protected] www.reumatikerforbundet.org/ [email protected] www.njurforbundet.se [email protected] www.pio.se [email protected] www.reumatikerforbundet.org/ [email protected] www.njurforbundet.se [email protected] www.pio.se [email protected] www.reumatikerforbundet.org/ [email protected] www.njurforbundet.se [email protected] www.pio.se [email protected] www.reumatikerforbundet.org/ [email protected] www.njurforbundet.se [email protected] www.pio.se [email protected] www.reumatikerforbundet.org/ [email protected] www.njurforbundet.se [email protected] www.pio.se [email protected] www.fub.se [email protected] www.fub.se [email protected] www.fub.se [email protected] www.fub.se [email protected] www.noc.fub.se [email protected] www.srf.nu [email protected] www.aniridi.se [email protected] Det finns ingen svensk förening för CCHS www.cchsnetwork.org Congenital central hypoventilation syndrome Det finns ingen svensk förening för CCHS www.cchsnetwork.org CCHS Det finns ingen svensk förening för CCHS www.cchsnetwork.org CDG-syndromet typ Ia Congenital disorders of glycosylation Central core disease Neurofibromatos typ 2 NF2 Vestibularisschwannomato Central neurofibromatos Centronukleär myopati Myotubulär myopati Dariers sjukdom Keratosis follicularis Sotos syndrom Cerebral gigantism Zellwegers syndrom Cerebrohepatorenalt syndrom Infantil neuronal ceroidlipofuscinos INCL Ceroid lipofuscinosis neuronal (type 1) CLN1 Cystisk fibros CF Cystisk pankreasfibros Mukoviskoidos Kongenital fibertypsdisproportion Congenital fiber type disproportion CFTD www.cdgs.se [email protected] www.cdgs.se [email protected] www.neuroforbundet.se [email protected] www.rbu.se [email protected] www.nf-forbundet.se [email protected] www.hrf.se [email protected] www.visriks.nu [email protected] www.sallsyntadiagnoser.se [email protected] www.nf-forbundet.se [email protected] www.hrf.se [email protected] www.visriks.nu [email protected] www.sallsyntadiagnoser.se [email protected] www.nf-forbundet.se [email protected] www.hrf.se [email protected] www.visriks.nu [email protected] www.sallsyntadiagnoser.se [email protected] www.nf-forbundet.se [email protected] www.hrf.se [email protected] www.visriks.nu [email protected] www.sallsyntadiagnoser.se [email protected] www.rbu.se [email protected] www.neuroforbundet.se [email protected] www.mtmrg.org [email protected] www.rbu.se [email protected] www.neuroforbundet.se [email protected] www.mtmrg.org [email protected] www.iktyos.se [email protected] www.iktyos.se [email protected] www.sotos.se [email protected] www.sallsyntadiagnoser.se [email protected] www.fub.se [email protected] www.autism.se [email protected] www.sotos.se [email protected] www.sallsyntadiagnoser.se [email protected] www.fub.se [email protected] www.autism.se [email protected] Svenska Leukodystrofiföreningen, ingen hemsida Kontaktperson: Björn Holmgren telefonnr: 0480-47 52 85 www.ulf.org [email protected] Svenska Leukodystrofiföreningen, ingen hemsida Kontaktperson: Björn Holmgren telefonnr: 0480-47 52 85 www.ulf.org [email protected] www.srf.nu [email protected] www.fub.se [email protected] www.incl.fi [email protected] www.bdsra.org [email protected] www.srf.nu [email protected] www.fub.se [email protected] www.incl.fi [email protected] www.bdsra.org [email protected] www.srf.nu [email protected] www.fub.se [email protected] www.incl.fi [email protected] www.bdsra.org [email protected] www.srf.nu [email protected] www.fub.se [email protected] www.incl.fi [email protected] www.bdsra.org [email protected] www.rfcf.se [email protected] www.rfcf.se [email protected] www.rfcf.se [email protected] www.rfcf.se [email protected] www.neuroforbundet.se [email protected] www.rbu.se [email protected] www.neuroforbundet.se [email protected] www.rbu.se [email protected] www.neuroforbundet.se [email protected] Kongenital myopati med fibertypsdisproportion Kronisk granulomatös sjukdom www.rbu.se [email protected] www.neuroforbundet.se [email protected] www.rbu.se [email protected] www.pio.nu [email protected] www.slipi.nu www.sissi.nu [email protected] www.esid.org www.ingid.org CGD www.pio.nu [email protected] www.slipi.nu www.sissi.nu [email protected] www.esid.org www.ingid.org Chronic granulomatous disease www.pio.nu [email protected] www.slipi.nu www.sissi.nu [email protected] www.esid.org www.ingid.org CHARGE syndrom CHARGE association Chondrodysplasia punctata, autosomal recessiv Chondrodystrofia calcificans, autosomal recessiv Rizomelisk chondrodysplasia punctata Chondrodysplasia punctata, X-kromosombunden dominant Chondrodystrophia calcificans, X-kromosombunden dominant CIDP Chronic inflammatory demyelinating polyneuropathy Kronisk inflammatorisk demyeliniserande polyneuropati Churg-Strauss syndrom Creutzfeldt-Jakobs sjukdom Cleidokranial dysplasi CCD Juvenil neuronal ceroidlipofuscinos JNCL Spielmeyer-Vogts sjukdom Juvenil Battens sjukdom CLN3 Cockaynes syndrom Nethertons syndrom Comel-Nethertons syndrom Variabel immunbrist www.fsdb.org [email protected] www.sallsyntadiagnoser.se [email protected] www.fub.se [email protected] www.dhb.se [email protected] www.hrf.se [email protected] www.sdr.org [email protected] www.srf.nu [email protected] www.chargesyndrome.org [email protected] www.fsdb.org [email protected] www.fub.se [email protected] www.dhb.se [email protected] www.hrf.se [email protected] www.sdr.org [email protected] www.srf.nu [email protected] www.chargesyndrome.org [email protected] www.sallsyntadiagnoser.se [email protected] www.fub.se [email protected] www.sallsyntadiagnoser.se [email protected] www.fub.se [email protected] www.sallsyntadiagnoser.se [email protected] www.fub.se [email protected] www.fkv.se [email protected] www.rbu.se [email protected] www.fkv.se [email protected] www.rbu.se [email protected] www.gbssverige.com [email protected] www.neuroforbundet.se [email protected] www.rbu.se [email protected] www.gbssverige.com [email protected] www.neuroforbundet.se [email protected] www.rbu.se [email protected] www.gbssverige.com [email protected] www.neuroforbundet.se [email protected] www.rbu.se [email protected] www.reumatikerforbundet.org [email protected] www.neuroforbundet.se [email protected] www.demensforbundet.se [email protected] www.cjdsupport.net [email protected] www.rbu.se [email protected] www.rbu.se [email protected] http://ssvf.nu/ [email protected] www.srf.nu [email protected] www.bdsra.org [email protected] http://ssvf.nu/ [email protected] www.srf.nu [email protected] www.bdsra.org [email protected] http://ssvf.nu/ [email protected] www.srf.nu [email protected] www.bdsra.org [email protected] http://ssvf.nu/ [email protected] www.srf.nu [email protected] www.bdsra.org [email protected] http://ssvf.nu/ [email protected] www.srf.nu [email protected] www.bdsra.org [email protected] www.fub.se [email protected] www.iktyos.se [email protected] www.iktyos.se [email protected] www.pio.nu [email protected] www.slipi.nu www.sissi.nu [email protected] www.esid.org www.ingid.org Common variable immunodeficiency www.pio.nu [email protected] www.slipi.nu www.sissi.nu [email protected] www.esid.org www.ingid.org CVID www.pio.nu [email protected] www.slipi.nu www.sissi.nu [email protected] www.esid.org www.ingid.org Hypogammaglobulinemi www.pio.nu [email protected] www.slipi.nu www.sissi.nu [email protected] www.esid.org www.ingid.org Costellos syndrom www.fub.se [email protected] http://costellokids.com Faciokutant skeletalt syndrom www.fub.se [email protected] http://costellokids.com Faciocutaneoskeletal syndrome www.fub.se [email protected] http://costellokids.com FCS-syndromet www.fub.se [email protected] http://costellokids.com Progressiv extern oftalmoplegi PEO CPEO Crouzons syndrom Cystinos Kinsbournes syndrom Dancing eye syndrome Opsoklonus-myoklonus Dandy-Walkers syndrom www.srf.nu [email protected] www.neuroforbundet.se [email protected] www.umdf.org [email protected] www.srf.nu [email protected] www.neuroforbundet.se [email protected] www.umdf.org [email protected] www.srf.nu [email protected] www.neuroforbundet.se [email protected] www.umdf.org [email protected] www.kraniofaciala.se [email protected] www.njurforbundet.se [email protected] www.srf.nu [email protected] www.cystinosisfoundation.org [email protected] www.rbu.se [email protected] www.fub.se [email protected] www.omsusa.org [email protected] www.rbu.se [email protected] www.fub.se [email protected] www.omsusa.org [email protected] www.rbu.se [email protected] www.fub.se [email protected] www.omsusa.org [email protected] www.rbu.se [email protected] www.fub.se [email protected] www.hydrocefalus.com www.dandy-walker.org Danons sjukdom Lysosomassocierat membranprotein 2 LAMP2 Optikushypoplasi Optic nerve hypoplasia ONH ONH-syndromet Septo-optisk dysplas De Morsiers syndrom Derivatkromosom 22-syndromet www.agsdus.org [email protected] www.fub.se [email protected] www.agsdus.org [email protected] www.fub.se [email protected] www.agsdus.org [email protected] www.fub.se [email protected] www.fub.se [email protected] www.autism.se [email protected] www.srf.nu [email protected] www.aniridi.se [email protected] www.fub.se [email protected] www.autism.se [email protected] www.srf.nu [email protected] www.aniridi.se [email protected] www.fub.se [email protected] www.autism.se [email protected] www.srf.nu [email protected] www.aniridi.se [email protected] www.fub.se [email protected] www.autism.se [email protected] www.srf.nu [email protected] www.aniridi.se [email protected] www.fub.se [email protected] www.autism.se [email protected] www.srf.nu [email protected] www.aniridi.se [email protected] www.fub.se [email protected] www.autism.se [email protected] www.srf.nu [email protected] www.aniridi.se [email protected] www.fub.se [email protected] www.c22c.org Emanuels syndrom www.fub.se [email protected] www.c22c.org Partiell trisomi 11/22 www.fub.se [email protected] www.c22c.org Dermatomyosit Desintegrativ störning Hellers syndrom Neuromyelitis optica NMO Devics sjukdom Diastrofisk dysplasi Duchennes muskeldystrofi DMD Dravets syndrom Severe myoclonic epilepsy of infancy SMEI Potocki-Lupskis syndrom Duplikation 17p11.2-syndromet Trisomi 5p-syndromet Duplikation 5p-syndromet Trisomi 8q-syndromet 8q-duplikationssyndromet Dyskeratosis congenita www.reumatikerforbundet.org [email protected] www.ungareumatiker.org [email protected] www.myositis.org [email protected] www.autism.se [email protected] www.fub.se [email protected] www.autism.se [email protected] www.fub.se [email protected] www.neuroforbundet.se [email protected] www.srf.nu [email protected] www.neuroforbundet.se [email protected] www.srf.nu [email protected] www.neuroforbundet.se [email protected] www.srf.nu [email protected] www.fkv.se [email protected] www.rbu.se [email protected] www.rbu.se [email protected] www.neuroforbundet.se [email protected] www.rbu.se [email protected] www.neuroforbundet.se [email protected] www.epilepsi.se [email protected] www.fub.se [email protected] www.dravetssweden.se [email protected] www.epilepsi.se [email protected] www.fub.se [email protected] www.dravetssweden.se [email protected] www.epilepsi.se [email protected] www.fub.se [email protected] www.dravetssweden.se [email protected] www.fub.se [email protected] www.noc.fub.se [email protected] www.potockilupskisyndrome.org [email protected] www.fub.se [email protected] www.noc.fub.se [email protected] www.potockilupskisyndrome.org [email protected] www.fub.se [email protected] www.noc.fub.se [email protected] www.fub.se [email protected] www.noc.fub.se [email protected] www.fub.se [email protected] www.noc.fub.se [email protected] www.fub.se [email protected] www.noc.fub.se [email protected] www.pio.nu [email protected] www.slipi.nu www.sissi.nu [email protected] www.esid.org www.ingid.org Hoyeraal-Hreidarssons syndrom www.pio.nu [email protected] www.slipi.nu www.sissi.nu [email protected] www.esid.org www.ingid.org Dystrofia myotonika Steinerts sjukdom Dystrofia myotonika typ 1 Kongenital dystrofia myotonika Dystrofia myotonika typ 2 Proximal myoton myopati PROMM Prune belly-syndromet Eagle-Barretts syndrom Epidermolysis bullosa EB Emery-Dreifuss muskeldystrofi EDMD XL-EDMD EDMD2 Ehlers-Danlos syndrom EDS Trisomi 18-syndromet www.neuroforbundet.se [email protected] www.rbu.se [email protected] www.fub.se [email protected] www.neuroforbundet.se [email protected] www.rbu.se [email protected] www.fub.se [email protected] www.neuroforbundet.se [email protected] www.rbu.se [email protected] www.fub.se [email protected] www.neuroforbundet.se [email protected] www.rbu.se [email protected] www.fub.se [email protected] www.neuroforbundet.se [email protected] www.rbu.se [email protected] www.fub.se [email protected] www.neuroforbundet.se [email protected] www.rbu.se [email protected] www.fub.se [email protected] www.neuroforbundet.se [email protected] www.rbu.se [email protected] www.fub.se [email protected] www.prunebelly.org [email protected] www.prunebelly.org [email protected] www.ebforeningen.se [email protected] www.sallsyntadiagnoser.se [email protected] www.ebforeningen.se [email protected] www.sallsyntadiagnoser.se [email protected] www.neuroforbundet.se [email protected] www.rbu.se [email protected] www.neuroforbundet.se [email protected] www.rbu.se [email protected] www.neuroforbundet.se [email protected] www.rbu.se [email protected] www.neuroforbundet.se [email protected] www.rbu.se [email protected] www.ehlers-danlos.se [email protected] www.sallsyntadiagnoser.se [email protected] www.ehlers-danlos.se [email protected] www.sallsyntadiagnoser.se [email protected] www.fub.se [email protected] Edwards syndrom Ellis-van Crevelds syndrom Kondroektodermal dysplasi Weyers akrofaciala dysostos Herpes simplexencefalit Herpesencefalit Encefalit orsakad av HSV-1 (HHV1) och HSV-2 (HHV2) Facioskapulohumeral muskeldystrofi FSHD Sturge-Webers syndrom SWS Sturge-Weber-Dimitris syndrom Encefalotrigeminal angiomatos Langerhans cellhistiocytos LCH Eosinofilt granulom Hand-Schüller-Christians sjukdom Histiocytosis X Letterer-Siwes sjukdom Erytropoetisk protoporfyri Porfyri, erytropoetisk protoporfyri Ärftlig ferrokelatasbrist Esofagusatresi Intestinal pseudoobstruktion Falskt tarmvred Gelsolinamyloidos Familjär amyloid neuropati typ IV Meretojas sjukdom Hereditär amyloidos, finsk typ Familjär amyloidos med polyneuropati FAP Skelleftesjukan Hemofagocyterande syndrom Familjär hemofagocyterande lymfohistiocytos FHL Hypoparatyreoidism Familjär isolerad hypoparatyreoidism X-kromosombunden recessiv hypoparatyreoidism www.noc.fub.se [email protected] www.trisomy.org [email protected] www.fub.se [email protected] www.noc.fub.se [email protected] www.trisomy.org [email protected] www.rbu.se [email protected] www.fkv.se [email protected] www.hjartebarn.org [email protected] www.rbu.se [email protected] www.fkv.se [email protected] www.hjartebarn.org [email protected] www.rbu.se [email protected] www.fkv.se [email protected] www.hjartebarn.org [email protected] www.sallsyntadiagnoser.se [email protected] www.hjarnkraft.nu [email protected] www.rtp.se [email protected] www.neuroforbundet.se [email protected] www.afasi.se [email protected] www.encephalitisglobal.org [email protected] www.sallsyntadiagnoser.se [email protected] www.hjarnkraft.nu [email protected] www.rtp.se [email protected] www.neuroforbundet.se [email protected] www.afasi.se [email protected] www.encephalitisglobal.org [email protected] www.sallsyntadiagnoser.se [email protected] www.hjarnkraft.nu [email protected] www.rtp.se [email protected] www.neuroforbundet.se [email protected] www.afasi.se [email protected] www.encephalitisglobal.org [email protected] www.rbu.se [email protected] www.neuroforbundet.se [email protected] www.rbu.se [email protected] www.neuroforbundet.se [email protected] www.sturge-weber.se [email protected] www.sallsyntadiagnoser.se [email protected] www.glaukomforbundet.org.se [email protected] www.srf.nu [email protected] www.fub.se [email protected] www.epilepsi.se [email protected] www.sturge-weber.se [email protected] www.sallsyntadiagnoser.se [email protected] www.glaukomforbundet.org.se [email protected] www.srf.nu [email protected] www.fub.se [email protected] www.epilepsi.se [email protected] www.sturge-weber.se [email protected] www.sallsyntadiagnoser.se [email protected] www.glaukomforbundet.org.se [email protected] www.srf.nu [email protected] www.fub.se [email protected] www.epilepsi.se [email protected] www.sturge-weber.se [email protected] www.sallsyntadiagnoser.se [email protected] www.glaukomforbundet.org.se [email protected] www.srf.nu [email protected] www.fub.se [email protected] www.epilepsi.se [email protected] www.histiocytos.se [email protected] www.histio.org [email protected] www.histiocytos.se [email protected] www.histio.org [email protected] www.histiocytos.se [email protected] www.histio.org [email protected] www.histiocytos.se [email protected] www.histio.org [email protected] www.histiocytos.se [email protected] www.histio.org [email protected] www.histiocytos.se [email protected] www.histio.org [email protected] www.porfyri.se [email protected] www.sallsyntadiagnoser.se [email protected] www.porfyri.se [email protected] www.sallsyntadiagnoser.se [email protected] www.porfyri.se [email protected] www.sallsyntadiagnoser.se [email protected] www.vacterl.com [email protected] www.magotarm.se [email protected] www.magotarm.se [email protected] www.hpn.se [email protected] www.magotarm.se [email protected] www.hpn.se [email protected] www.suomenamyloidoosiyhdistys.fi [email protected] www.neuroforbundet.se [email protected] www.srf.nu [email protected] www.hrf.se [email protected] www.suomenamyloidoosiyhdistys.fi [email protected] www.neuroforbundet.se [email protected] www.srf.nu [email protected] www.hrf.se [email protected] www.suomenamyloidoosiyhdistys.fi [email protected] www.neuroforbundet.se [email protected] www.srf.nu [email protected] www.hrf.se [email protected] www.suomenamyloidoosiyhdistys.fi [email protected] www.neuroforbundet.se [email protected] www.srf.nu [email protected] www.hrf.se [email protected] www.famy.se [email protected] www.famynorrbotten.se [email protected] www.famy.se [email protected] www.famynorrbotten.se [email protected] www.famy.se [email protected] www.famynorrbotten.se [email protected] www.histio.org [email protected] www.histiocytos.se [email protected] www.histio.org [email protected] www.histiocytos.se [email protected] www.histio.org [email protected] www.histiocytos.se [email protected] www.hpth.no www.sallsyntadiagnoser.se [email protected] www.hpth.no [email protected] www.sallsyntadiagnoser.se [email protected] www.hpth.no www.sallsyntadiagnoser.se Familjär hypokalcemi med hyperkalciuri Familjär medelhavsfeber [email protected] www.hpth.no www.sallsyntadiagnoser.se [email protected] www.reumatikerforbundet.org [email protected] www.njurforbundet.se [email protected] www.pres.org.uk [email protected] www.slipi.nu FMF www.reumatikerforbundet.org [email protected] www.njurforbundet.se [email protected] www.pres.org.uk www.slipi.nu Fanconis anemi www.barncancerfonden.se [email protected] www.blodcancerforbundet.se [email protected] www.fanconi.org [email protected] www.airfa.it [email protected] www.fanconicanada.org [email protected] www.fanconi.de [email protected] www.fanconi.com www.fanconihope.org Multipel endokrin neoplasi typ 2 MEN 2 Sipples syndrom Familjär medullär tyroideacancer Fenylketonuri Phenylketonuria PKU Fibrodysplasia ossificans progressiva FOP Myositis ossificans progressiva MOP Floating-Harborsyndromet Pelletier-Leistis syndrom Perisylviärt syndrom Kongenitalt bilateralt perisylviärt syndrom Operculumsyndrom Foix-Chavany-Maries syndrom Worster-Droughts syndrom Goltz syndrom Fokal dermal hypoplasi Taruis sjukdom Glykogenos typ VII Fosfofruktokinasbrist Fragil X-syndromet FRAXA-syndromet Treacher Collins syndrom Mandibulofacial dysostos Franceschetti-Kleins syndrom Friedreichs ataxi FRDA Kongenitala muskeldystrofier Kongenital muskeldystrofi med laminin α2-brist Ullrich kongenitala muskeldystrofi Integrin a-brist Walker-Warburgs syndrom www.sipples.se [email protected] www.cancersjukasriks.se [email protected] www.sipples.se [email protected] www.cancersjukasriks.se [email protected] www.sipples.se [email protected] www.cancersjukasriks.se [email protected] www.sipples.se [email protected] www.cancersjukasriks.se [email protected] www.pku.se [email protected], [email protected] www.sallsyntadiagnoser.se [email protected] www.fub.se [email protected] www.barnlakarforeningen.se [email protected] , [email protected] www.espku.org [email protected] www.pku.se [email protected], [email protected] www.sallsyntadiagnoser.se [email protected] www.fub.se [email protected] www.barnlakarforeningen.se [email protected] , [email protected] www.espku.org [email protected] www.pku.se [email protected], [email protected] www.sallsyntadiagnoser.se [email protected] www.fub.se [email protected] www.barnlakarforeningen.se [email protected] , [email protected] www.espku.org [email protected] www.fopsverige.se [email protected] www.sallsyntadiagnoser.se [email protected] www.ifopa.org [email protected] www.fopsverige.se [email protected] www.sallsyntadiagnoser.se [email protected] www.ifopa.org [email protected] www.fopsverige.se [email protected] www.sallsyntadiagnoser.se [email protected] www.ifopa.org [email protected] www.fopsverige.se [email protected] www.sallsyntadiagnoser.se [email protected] www.ifopa.org [email protected] www.fub.se [email protected] www.celiaki.se [email protected] www.floatingharborsyndromesupport.com [email protected] www.fub.se [email protected] www.celiaki.se [email protected] www.floatingharborsyndromesupport.com [email protected] www.fub.se [email protected] www.afasi.se [email protected] www.dhb.se [email protected] www.sallsyntadiagnoser.se [email protected] www.fub.se [email protected] www.afasi.se [email protected] www.dhb.se [email protected] www.sallsyntadiagnoser.se [email protected] www.fub.se [email protected] www.afasi.se [email protected] www.dhb.se [email 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Globoidcell leukodystrofi GLD Glukostransportprotein typ 1-brist GLUT1-bristsyndromet Glutarsyreuri typ I Glutarsyreemi typ 1 Glutaryl-CoA dehydrogenas brist Pompes sjukdom Glykogenos typ II Surt maltasbrist McArdles sjukdom Glykogenos typ V Myofosforylasbrist Goldenhars syndrom Okuloaurikulovertebralt spektrum OAVS Hemifacial mikrosom Goodpastures sjukdom Hereditärt angioödem www.rbu.se [email protected] www.fub.se [email protected] www.srf.nu [email protected] www.sallsyntadiagnoser.se [email protected] Föräldrarepresentant för Gillespies syndrom [email protected] www.aniridi.se [email protected] www.glaukomforbundet.org.se [email protected] www.srf.nu [email protected] www.aniridi.se [email protected] www.glaukomforbundet.org.se [email protected] www.srf.nu [email protected] www.aniridi.se [email protected] www.glaukomforbundet.org.se [email protected] www.srf.nu [email protected] www.aniridi.se [email protected] www.glaukomforbundet.org.se [email protected] www.srf.nu [email 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myopathy ISCU-myopati Hereditary myopathy with lactic acidosis HML Myopathy with exercise intolerance (Swedish type) Ärftlig tryckkänslig neuropati Hereditär neuropati med kompressionsneuropatier Hereditary neuropathy with liability to pressure palsies HNPP Hereditär sensorisk och autonom neuropati typ V HSAN V Ärftlig smärtokänslighet Hereditär spastisk parapares Hereditär spastisk paraplegi Strümpel-Lorrains syndrom Refsums sjukdom Heredopathia atactica polyneuritiformis Neonatal herpes simplexencefalit Neonatal herpesencefalit Herpesencefalit hos nyfödda Hyper-IgE-syndromet www.fub.se [email protected] www.neuroforbundet.se [email protected] www.rbu.se [email protected] www.nbiadisorders.org [email protected] www.fub.se [email protected] www.neuroforbundet.se [email protected] www.rbu.se [email protected] www.nbiadisorders.org [email protected] www.fub.se [email protected] www.neuroforbundet.se [email protected] www.rbu.se [email protected] www.nbiadisorders.org [email protected] 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[email protected] www.neuroforbundet.se [email protected] www.neuroforbundet.se [email protected] www.neuroforbundet.se [email protected] www.neuroforbundet.se [email protected] www.neuroforbundet.se [email protected] www.rbu.se [email protected] www.sallsyntadiagnoser.se [email protected] www.sp-foundation.org [email protected] www.neuroforbundet.se [email protected] www.rbu.se [email protected] www.sallsyntadiagnoser.se [email protected] www.sp-foundation.org [email protected] www.neuroforbundet.se [email protected] www.rbu.se [email protected] www.sallsyntadiagnoser.se [email protected] www.sp-foundation.org [email protected] www.neuroforbundet.se [email protected] www.rbu.se [email protected] www.srf.nu [email protected] www.hrf.se [email protected] www.fsdb.org [email protected] www.iktyos.se [email protected] Internationell diskussionsgrupp (engelskspråkig) [email protected] www.neuroforbundet.se [email protected] www.rbu.se [email protected] www.srf.nu [email protected] www.hrf.se [email protected] www.fsdb.org [email protected] www.iktyos.se [email protected] Internationell diskussionsgrupp (engelskspråkig) [email protected] www.fub.se [email protected] www.rbu.se [email protected] www.srf.nu [email protected] www.fub.se [email protected] www.rbu.se [email protected] www.srf.nu [email protected] www.fub.se [email protected] www.rbu.se [email protected] www.srf.nu [email protected] www.pio.nu [email protected] www.slipi.nu www.sissi.nu [email protected] www.esid.org www.ingid.org Jobs syndrom www.pio.nu [email protected] www.slipi.nu www.sissi.nu [email protected] www.esid.org www.ingid.org Hyperimmunglobulin E-syndromet www.pio.nu [email protected] www.slipi.nu www.sissi.nu [email protected] www.esid.org www.ingid.org HIES www.pio.nu [email protected] www.slipi.nu www.sissi.nu [email protected] www.esid.org www.ingid.org DOCK8-brist www.pio.nu [email protected] www.slipi.nu www.sissi.nu [email protected] www.esid.org www.ingid.org von Hippel-Lindaus sjukdom Hippel-Lindaus syndrom Lindaus sjukdom Retinocerebellär angiomatos www.vhl.org [email protected] www.vhl-danmark.dk [email protected] www.cancersjukasriks.se [email protected] www.neuroforbundet.se [email protected] www.srf.nu [email protected] www.vhl.org [email protected] www.vhl.dk [email protected] www.cancersjukasriks.se [email protected] www.neuroforbundet.se [email protected] www.srf.nu [email protected] www.vhl.org [email protected] www.vhl-danmark.dk [email protected] www.cancersjukasriks.se [email protected] www.neuroforbundet.se [email protected] www.srf.nu [email protected] www.vhl.org [email protected] www.vhl-danmark.dk [email protected] www.cancersjukasriks.se [email protected] www.neuroforbundet.se [email protected] www.srf.nu [email protected] Homocystinuri Hunters sjukdom Mukopolysackaridos typ II MPS II Iduronatsulfatasbrist Huntingtons sjukdom Huntingtons chorea Juvenil Huntingtons sjukdom Hyperkalemisk periodisk paralys och Paramyotonia congenita HyperPP von Eulenburgs sjukdom Kallmanns syndrom Hypogonadotrop hypogonadism Hypofosfatasi Hypohidrotisk ektodermal dysplasi med immunbrist www.fub.se [email protected] www.srf.nu [email protected] www.mpsforeningen.se [email protected] www.sallsyntadiagnoser.se [email protected] www.fub.se [email protected] www.mpssociety.co.uk [email protected] www.mpssociety.org [email protected] www.mpsforeningen.se [email protected] www.sallsyntadiagnoser.se [email protected] www.fub.se [email protected] www.mpssociety.co.uk [email protected] www.mpssociety.org [email protected] www.mpsforeningen.se [email protected] www.sallsyntadiagnoser.se [email protected] www.fub.se [email protected] www.mpssociety.co.uk [email protected] www.mpssociety.org [email protected] www.mpsforeningen.se [email protected] www.sallsyntadiagnoser.se [email protected] www.fub.se [email protected] www.mpssociety.co.uk [email protected] www.mpssociety.org [email protected] www.neuroforbundet.se [email protected] www.huntington.se [email protected] www.neuroforbundet.se [email protected] www.huntington.se [email protected] www.neuroforbundet.se [email protected] www.huntington.se [email protected] www.neuroforbundet.se [email protected] www.neuroforbundet.se [email protected] www.neuroforbundet.se [email protected] www.hypofysis.se [email protected] www.hypohh.net [email protected] www.hypofysis.se [email protected] www.hypohh.net [email protected] Förening saknas i Sverige www.pio.nu [email protected] www.svenskaed.se [email protected] www.sallsyntadiagnoser.se [email protected] www.nfed.org [email protected] www.slipi.nu www.sissi.nu [email protected] www.esid.org www.ingid.org Inklusionskroppsmyosit Inclusion body myositis IBM Markörkromosom 15-syndromet idic(15)-syndromet Primär ciliär dyskinesi Immotile cilia syndrome Kartageners syndrom Medfödd cilieorörlighet IPEX-syndromet www.neuroforbundet.se [email protected] www.neuroforbundet.se [email protected] www.neuroforbundet.se [email protected] www.fub.se [email protected] www.noc.fub.se [email protected] www.autism.se [email protected] www.epilepsi.se [email protected] www.idic15.org [email protected] www.fub.se [email protected] www.noc.fub.se [email protected] www.autism.se [email protected] www.epilepsi.se [email protected] www.idic15.org [email protected] www.rfcf.se [email protected] www.hjart-lung.se [email protected] www.rfcf.se [email protected] www.hjart-lung.se [email protected] www.rfcf.se [email protected] www.hjart-lung.se [email protected] www.rfcf.se [email protected] www.hjart-lung.se [email protected] www.pio.nu [email protected] www.slipi.nu www.sissi.nu [email protected] www.esid.org www.ingid.org Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked www.pio.nu [email protected] www.slipi.nu www.sissi.nu [email protected] www.esid.org www.ingid.org IPEX-liknande syndrom www.pio.nu [email protected] www.slipi.nu www.sissi.nu [email protected] www.esid.org www.ingid.org Incontinentia pigmenti Incontinentia pigmenti achromians Isaacs syndrom Neuromyotoni Pallister-Killians syndrom Isokromosom 12p-syndromet Tetrasomi 12p-syndromet Isokromosom 18p-syndromet IP-patientförening [email protected] www.ipif.org [email protected] www.srf.nu [email protected] saknas www.neuroforbundet.se [email protected] www.rbu.se [email protected] www.neuroforbundet.se [email protected] www.rbu.se [email protected] www.fub.se [email protected] www.noc.fub.se [email protected] www.hjartebarn.org [email protected] www.aniridi.se [email protected] www.fub.se [email protected] www.noc.fub.se [email protected] www.hjartebarn.org [email protected] www.aniridi.se [email protected] www.fub.se [email protected] www.noc.fub.se [email protected] www.hjartebarn.org [email protected] www.aniridi.se [email protected] www.fub.se [email protected] www.noc.fub.se [email protected] www.chromosome18.org Tetrasomi 18p-syndromet www.fub.se [email protected] www.noc.fub.se [email protected] www.chromosome18.org Jervell och Lange-Nielsens syndrom JLNS Surdokardiellt syndrom Långt QT-syndrom www.hjartebarn.org [email protected] www.hrf.se [email protected] www.sdr.org [email protected] www.sduf.se [email protected] www.dhb.se [email protected] www.barnplantorna.se [email protected] www.hjartebarn.org [email protected] www.hrf.se [email protected] www.sdr.org [email protected] www.sduf.se [email protected] www.dhb.se [email protected] www.barnplantorna.se [email protected] www.hjartebarn.org [email protected] www.hrf.se [email protected] www.sdr.org [email protected] www.sduf.se [email protected] www.dhb.se [email protected] www.barnplantorna.se [email protected] www.hjartebarn.org [email protected] www.hrf.se [email protected] www.sdr.org [email protected] www.sduf.se [email protected] www.dhb.se [email protected] LQTS Jouberts syndrom Jouberts syndrom-liknande sjukdomar Kabukisyndromet www.barnplantorna.se [email protected] www.hjartebarn.org [email protected] www.hrf.se [email protected] www.sdr.org [email protected] www.sduf.se [email protected] www.dhb.se [email protected] www.barnplantorna.se [email protected] www.joubertsyndrome.org [email protected] www.fub.se [email protected] www.rbu.se [email protected] www.joubertsyndrome.org [email protected] www.fub.se [email protected] www.rbu.se [email protected] www.fub.se [email protected] www.kabukisyndrome.com [email protected] www.sakks.org Kabuki makeup-syndromet www.hrf.se [email protected] www.fub.se [email protected] www.kabukisyndrome.com [email protected] www.sakks.org Niikawa-Kurokis syndrom www.hrf.se [email protected] www.fub.se [email protected] www.kabukisyndrome.com [email protected] www.sakks.org LEOPARD syndrom Noonans syndrom med multipla lentigines Kardiokutant syndrom Kearns-Sayres syndrom och Pearsons syndrom KSS Kennedys sjukdom Spinobulbär muskelatrofi, X-kromosombunden SBMA Klippel-Feils syndrom Klippel-Trenaunays syndrom Kongenital iktyos Lamellär iktyos Epidermolytisk (bullös) iktyos Iktyos (kongenital) Kongenital myasteni Svår medfödd neutropeni www.hrf.se [email protected] www.noonanforeningen.se [email protected] www.sallsyntadiagnoser.se [email protected] www.fub.se [email protected] www.noonanforeningen.se [email protected] www.sallsyntadiagnoser.se [email protected] www.fub.se [email protected] www.noonanforeningen.se [email protected] www.sallsyntadiagnoser.se [email protected] www.fub.se [email protected] www.rbu.se [email protected] www.fub.se [email protected] www.neuroforbundet.se [email protected] www.umdf.org [email protected] www.rbu.se [email protected] www.fub.se [email protected] www.neuroforbundet.se [email protected] www.umdf.org [email protected] www.sallsyntadiagnoser.se [email protected] www.neuroforbundet.se [email protected] www.kennedysdisease.org [email protected] www.sallsyntadiagnoser.se [email protected] www.neuroforbundet.se [email protected] www.kennedysdisease.org [email protected] www.sallsyntadiagnoser.se [email protected] www.neuroforbundet.se [email protected] www.kennedysdisease.org [email protected] www.neuroforbundet.se [email protected] www.vacterl.com [email protected] www.svenskaktsnatverket.se [email protected] www.k-t.org [email protected] www.proteus-uk.org [email protected] www.iktyos.se [email protected] www.sallsyntadiagnoser.se [email protected] www.iktyos.se [email protected] www.sallsyntadiagnoser.se [email protected] www.iktyos.se [email protected] www.sallsyntadiagnoser.se [email protected] www.iktyos.se [email protected] www.sallsyntadiagnoser.se [email protected] www.neuroforbundet.se [email protected] www.rbu.se [email protected] www.pio.nu [email protected] www.slipi.nu www.sissi.nu [email protected] www.esid.org www.ingid.org Kostmanns sjukdom www.pio.nu [email protected] www.slipi.nu www.sissi.nu [email protected] www.esid.org www.ingid.org Trisomi 13-syndromet Pataus syndrom Kromosom 15, 15q-duplikationssyndromet Kromosom 15, Partiell trisomi 15q-syndromet Kromosom 15, Trisomi 15q-syndromet Ringkromosom 22-syndromet Trisomi-mosaiksyndrom Trisomi 9-syndromet Trisomi 9-mosaiksyndromet Spinal muskelatrofi SMA 0 SMA I (Werdnig-Hoffmanns sjukdom SMA II SMA III (Kugelberg-Welanders sjukdom SMA IV Mastocytos www.fub.se [email protected] www.noc.fub.se [email protected] www.trisomy.org [email protected] www.trisomi18.com [email protected] www.fub.se [email protected] www.noc.fub.se [email protected] www.trisomy.org [email protected] www.trisomi18.com [email protected] Ingen kontakt Ingen kontakt Ingen kontakt www.fub.se [email protected] www.noc.fub.se [email protected] www.fub.se [email protected] www.noc.fub.se [email protected] www.fub.se [email protected] www.noc.fub.se [email protected] www.fub.se [email protected] www.noc.fub.se [email protected] http://nsma.nu/ [email protected] www.rbu.se [email protected] www.neuroforbundet.se [email protected] www.fsma.org [email protected] http://nsma.nu/ [email protected] www.rbu.se [email protected] www.neuroforbundet.se [email protected] www.fsma.org [email protected] http://nsma.nu/ [email protected] www.rbu.se [email protected] www.neuroforbundet.se [email protected] www.fsma.org [email protected] http://nsma.nu/ [email protected] www.rbu.se [email protected] www.neuroforbundet.se [email protected] www.fsma.org [email protected] http://nsma.nu/ [email protected] www.rbu.se [email protected] www.neuroforbundet.se [email protected] www.fsma.org [email protected] http://nsma.nu/ [email protected] www.rbu.se [email protected] www.neuroforbundet.se [email protected] www.fsma.org [email protected] Det finns inte någon patientorganisation för mastocytos i Sverige. www.tmsforacure.org www.ukmasto.co.uk Kutan mastocytos [email protected] Det finns inte någon patientorganisation för mastocytos i Sverige. www.tmsforacure.org www.ukmasto.co.uk Systemisk mastocytos [email protected] Det finns inte någon patientorganisation för mastocytos i Sverige. www.tmsforacure.org Lambert-Eatons myastena syndrom www.ukmasto.co.uk [email protected] www.neuroforbundet.se [email protected] LEMS Trikorinofalangealt syndrom Langer-Giedions syndrom Trichorhinophalangeal syndrome TRPS Larsens syndrom LCHAD-brist Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency Lebers hereditära optikusneuropati LHON Lebers kongenitala amauros Tidig form av retinitis pigmentosa Leighs syndrom Subakut nekrotiserande encefalomyelopati Lesch-Nyhans syndrom www.neuroforbundet.se [email protected] www.fub.se [email protected] www.rbu.se [email protected] www.fkv.se [email protected] www.fub.se [email protected] www.rbu.se [email protected] www.fkv.se [email protected] www.fub.se [email protected] www.rbu.se [email protected] www.fkv.se [email protected] www.fub.se [email protected] www.rbu.se [email protected] www.fkv.se [email protected] www.amcforeningen.se [email protected] www.sallsyntadiagnoser.se [email protected] www.rbu.se [email protected] www.srf.nu [email protected] www.rfl-lever.blogspot.se [email protected] www.srf.nu [email protected] www.rfl-lever.blogspot.se [email protected] www.srf.nu [email protected] www.ungasyn.se [email protected] www.umdf.org [email protected] www.sallsyntadiagnoser.se [email protected] www.lhon.se [email protected] www.srf.nu [email protected] www.ungasyn.se [email protected] www.umdf.org [email protected] www.sallsyntadiagnoser.se [email protected] www.lhon.se [email protected] www.srf.nu [email protected] www.ungasyn.se [email protected] www.retina-sweden.se [email protected] www.srf.nu [email protected] www.ungasyn.se [email protected] www.retina-sweden.se [email protected] www.rbu.se [email protected] www.fub.se [email protected] www.neuroforbundet.se [email protected] www.umdf.org [email protected] www.rbu.se [email protected] www.fub.se [email protected] www.neuroforbundet.se [email protected] www.umdf.org [email protected] www.rbu.se [email protected] www.fub.se [email protected] http://lndnet.ning.com [email protected] www.lesch-nyhan.org Limb-girdle muskeldystrofi LGMD Skulder-bäcken-muskeldystrof Lowes syndrom Okulocerebrorenalt syndrom Lysinurisk proteinintolerans LPI Spinocerebellära ataxier, dominant ärftliga SCA SCA1 SCA2 SCA3/Machado-Josephs sjukdom SCA6 SCA7 SCA8 Machado-Josephs sjukdom/SCA3 Ärftlig malign hypertermi Malign hypertermi Maple syrup urine disease www.lesch-nyhan.eu [email protected] www.rbu.se [email protected] www.neuroforbundet.se [email protected] www.rbu.se [email protected] www.neuroforbundet.se [email protected] www.rbu.se [email protected] www.neuroforbundet.se [email protected] www.lowesyndrome.org www.fub.se [email protected] www.srf.nu [email protected] www.lowesyndrome.org www.fub.se [email protected] www.srf.nu [email protected] Det finns ingen svensk förening för personer med lysinurisk proteinintolerans. Det finns ingen svensk förening för personer med lysinurisk proteinintolerans. www.neuroforbundet.se [email protected] www.ataxia.org [email protected] www.neuroforbundet.se [email protected] www.ataxia.org [email protected] www.neuroforbundet.se [email protected] www.ataxia.org [email protected] www.neuroforbundet.se [email protected] www.ataxia.org [email protected] www.neuroforbundet.se [email protected] www.ataxia.org [email protected] www.neuroforbundet.se [email protected] www.ataxia.org [email protected] www.neuroforbundet.se [email protected] www.ataxia.org [email protected] www.neuroforbundet.se [email protected] www.ataxia.org [email protected] www.neuroforbundet.se [email protected] www.ataxia.org [email protected] Det finns inte någon svensk patientorganisation för malign hypertermikänslighet. www.bmha.co.uk [email protected] www.mhaus.org [email protected] Det finns inte någon svensk patientorganisation för malign hypertermikänslighet. www.bmha.co.uk [email protected] www.mhaus.org [email protected] Det finns inte någon föräldra-/patientförening i Sverige. www.msud-support.org MSUD [email protected] Det finns inte någon föräldra-/patientförening i Sverige. www.msud-support.org Marfans syndrom McCune-Albrights syndrom Primär mikrocefali Primär mikrocefali (autosomal recessiv Microcephalia vera MCPH Multipel epifyseal dysplasi MED Osteogenesis imperfecta www.marfanforeningen.se [email protected] www.sallsyntadiagnoser.se [email protected] Det finns ingen svensk patientförening för personer med McCune-Albrights syndrom. www.fub.se [email protected] www.fub.se [email protected] www.fub.se [email protected] www.fub.se [email protected] www.rbu.se [email protected] www.rbu.se [email protected] www.rbu.se [email protected] www.osteoporos.org [email protected] www.oi-norden.net OI www.rbu.se [email protected] www.osteoporos.org [email protected] http://www.oife.org/ Medfödd benskörhet www.rbu.se [email protected] www.osteoporos.org [email protected] www.oi-norden.net Medfödd spondyloepifyseal dysplasi Spondyloepiphyseal dysplasia congenita MELAS Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes MERRF Myoclonic epilepsy with ragged-red fibers www.fkv.se [email protected] www.rbu.se [email protected] www.fkv.se [email protected] www.rbu.se [email protected] www.rbu.se [email protected] www.fub.se [email protected] www.neuroforbundet.se [email protected] www.umdf.org [email protected] www.rbu.se [email protected] www.fub.se [email protected] www.neuroforbundet.se [email protected] www.umdf.org [email protected] www.rbu.se [email protected] www.neuroforbundet.se [email protected] www.umdf.org [email protected] www.epilepsi.se [email protected] www.rbu.se [email protected] www.neuroforbundet.se [email protected] www.umdf.org [email protected] www.epilepsi.se [email protected] Metakromatisk leukodystrofi MLD Multifokal motorisk neuropati MMN www.sallsyntadiagnoser.se [email protected] www.fub.se [email protected] www.neuroforbundet.se [email protected] www.rbu.se [email protected] www.ulf.org [email protected] www.sallsyntadiagnoser.se [email protected] www.fub.se [email protected] www.neuroforbundet.se [email protected] www.rbu.se [email protected] www.ulf.org [email protected] www.neuroforbundet.se [email protected] www.neuropathy.org [email protected] www.neuroforbundet.se [email protected] www.neuropathy.org Orofaciodigitalt syndrom I och II OFD I och II Papillon Léage-Psaumes syndrom (OFD I) Mohrs syndrom (OFD II) Moyamoya Progressiv arteriell ocklusiv sjukdom Sanfilippos sjukdom Mukopolysackaridos typ III MPS III Multipel endokrin neoplasi typ 1 MEN 1 Wermers sjukdom Möbius syndrom Möbius sekvens Narkolepsi NARP Neuropati ataxi retinitis pigmentosa Nemalinmyopati Noonans syndrom OTC-brist Ornithine transcarbamylase deficiency Ornitintranskarbamylasbrist Pachyonychia congenita PC Polyarteritis nodosa PAN Paroxysmal nattlig hemoglobinuri PNH Paroxysmal nokturn hemoglobinuri Pelizaeus-Merzbachers sjukdom Pelizaeus-Merzbacher disease PMD Pfeiffers syndrom Polymyosit Prader-Willis syndrom PWS Pseudoakondroplasi Pseudoxanthoma elasticum www.fub.se [email protected] www.hrf.se [email protected] www.fub.se [email protected] www.hrf.se [email protected] www.fub.se [email protected] www.hrf.se [email protected] www.fub.se [email protected] www.hrf.se [email protected] www.neuroforbundet.se [email protected] www.rbu.se [email protected] www.neuroforbundet.se [email protected] www.rbu.se [email protected] www.mpsforeningen.se [email protected] www.sallsyntadiagnoser.se [email protected] www.fub.se [email protected] www.mpssociety.org.uk [email protected] www.mpssociety.org [email protected] www.mpsforeningen.se [email protected] www.sallsyntadiagnoser.se [email protected] www.fub.se [email protected] www.mpssociety.org.uk [email protected] www.mpssociety.org [email protected] www.mpsforeningen.se [email protected] www.sallsyntadiagnoser.se [email protected] www.fub.se [email protected] www.mpssociety.org.uk [email protected] www.mpssociety.org [email protected] www.carpapatient.se [email protected] www.cancersjukasriks.se [email protected] www.amend.org.uk [email protected] www.carpapatient.se [email protected] www.cancersjukasriks.se [email protected] www.amend.org.uk [email protected] www.carpapatient.se [email protected] www.cancersjukasriks.se [email protected] www.amend.org.uk [email protected] www.mobiussyndrom.se [email protected] www.sallsyntadiagnoser.se [email protected] www.fub.se [email protected] www.autism.se [email protected] www.mobiussyndrom.se [email protected] www.sallsyntadiagnoser.se [email protected] www.fub.se [email protected] www.autism.se [email protected] www.narkolepsiforeningen.se [email protected] www.neuroforbundet.se [email protected] www.srf.nu [email protected] www.ungasyn.se [email protected] www.retina-sweden.se [email protected] www.neuroforbundet.se [email protected] www.umdf.org [email protected] www.srf.nu [email protected] www.ungasyn.se [email protected] www.retina-sweden.se [email protected] www.neuroforbundet.se [email protected] www.umdf.org [email protected] www.neuroforbundet.se [email protected] www.rbu.se [email protected] www.noonan.nu [email protected] www.sallsyntadiagnoser.se [email protected] www.fub.se [email protected] www.rfl-lever.blogspot.se [email protected] www.fub.se [email protected] www.rfl-lever.blogspot.se [email protected] www.fub.se [email protected] www.rfl-lever.blogspot.se [email protected] www.fub.se [email protected] Svenska Pachyonychiaföreningen [email protected] www.iktyos.se [email protected] www.debra-sweden.org [email protected] Svenska Pachyonychiaföreningen [email protected] www.iktyos.se [email protected] www.debra-sweden.org [email protected] www.reumatikerforbundet.org [email protected] www.reumatikerforbundet.org [email protected] www.sallsyntadiagnoser.se [email protected] www.sallsyntadiagnoser.se [email protected] www.sallsyntadiagnoser.se [email protected] www.sallsyntadiagnoser.se [email protected] www.sallsyntadiagnoser.se [email protected] www.sallsyntadiagnoser.se [email protected] www.kraniofaciala.se [email protected] www.sallsyntadiagnoser.se [email protected] www.reumatikerforbundet.org [email protected] www.ungareumatiker.org [email protected] Dermatomyositis and Polymyositis Support Group, [email protected] www.myositis.org [email protected] www.prader-willi.se [email protected] www.ipwso.org [email protected] www.sallsyntadiagnoser.se [email protected] www.rbu.se [email protected] www.fub.se [email protected] www.prader-willi.se [email protected] www.ipwso.org [email protected] www.sallsyntadiagnoser.se [email protected] www.rbu.se [email protected] www.fub.se [email protected] www.fkv.se [email protected] www.rbu.se [email protected] www.srf.nu [email protected] www.napxe.org www.pxe.org [email protected] www.pxe.org.uk PXE www.srf.nu [email protected] www.napxe.org www.pxe.org [email protected] www.pxe.org.uk Rasmussens encefalit Retinoblastom Retts syndrom www.fub.se [email protected] www.rbu.se [email protected] www.epilepsi.se [email protected] www.srf.nu [email protected] www.barncancerfonden.se [email protected] www.srf.nu [email protected] www.rsis.se [email protected] www.sallsyntadiagnoser.se [email protected] www.rettsyndrome.org [email protected] www.rettsyndrome.eu www.rettmeeting.org Ringkromosom 22-syndromet Rubinstein-Taybis syndrom Silver-Russells syndrom Russell-Silvers syndrom Sallas sjukdom Sialic acid storage disorde SIASD Sialuria Finnish type Svår kombinerad immunbrist www.fub.se [email protected] www.noc.fub.se [email protected] www.rtssverige.se [email protected] www.fub.se [email protected] www.rbu.se [email protected] www.fkv.se [email protected] www.rbu.se [email protected] www.fkv.se [email protected] www.rbu.se [email protected] www.sallasforeningen.nu [email protected] www.fub.se [email protected] www.rbu.se [email protected] www.sallasforeningen.nu [email protected] www.fub.se [email protected] www.rbu.se [email protected] www.sallasforeningen.nu [email protected] www.fub.se [email protected] www.rbu.se [email protected] www.sallasforeningen.nu [email protected] www.fub.se [email protected] www.rbu.se [email protected] www.pio.nu [email protected] www.slipi.nu www.sissi.nu [email protected] www.esid.org www.ingid.org Severe combined immunodeficiency www.pio.nu [email protected] www.slipi.nu www.sissi.nu [email protected] www.esid.org www.ingid.org SCID www.pio.nu [email protected] www.slipi.nu www.sissi.nu [email protected] www.esid.org www.ingid.org Shwachmans syndrom www.pio.nu [email protected] www.slipi.nu www.sissi.nu [email protected] www.esid.org www.ingid.org Shwachman-Diamonds syndrom www.pio.nu [email protected] www.slipi.nu www.sissi.nu [email protected] www.esid.org www.ingid.org SDS www.pio.nu [email protected] www.slipi.nu www.sissi.nu [email protected] www.esid.org www.ingid.org Sicklecellsanemi Systemisk skleros Sklerodermi Smith-Lemli-Opitz syndrom SLOS SLO-syndromet Sjögren-Larssons syndrom SLS Smith-Magenis syndrom Saknas www.reumatikerforbundet.org [email protected] www.reumatikerforbundet.org [email protected] www.fub.se [email protected] www.fub.se [email protected] www.fub.se [email protected] www.iktyos.se [email protected] www.sallsyntadiagnoser.se [email protected] www.rbu.se [email protected] www.fub.se [email protected] www.iktyos.se [email protected] www.sallsyntadiagnoser.se [email protected] www.rbu.se [email protected] www.fub.se [email protected] www.smith-magenissyndrom.se [email protected] www.smith-magenis.co.uk [email protected] www.prisms.org. Spondyloepifyseal dysplasi med sen debut Spondyloepiphyseal dysplasia tarda Succinatsemialdehyd-dehydrogenasbrist SSADH-brist Stiff person syndrome Takayasus arterit TAR-syndromet Thalassemi Tuberös skleros Tuberous sclerosis complex TSC Tuberös skleroskomplexet Tyrosinemi typ 1 Usher syndrom VACTERL association Vertebra, anus, cor, trakea, esofagus, ren och limb, association VATER association WAGR-syndromet www.fub.se [email protected] www.hrf.se [email protected] www.srf.nu [email protected] www.rbu.se [email protected] www.fkv.se [email protected] www.rbu.se [email protected] www.fkv.se [email protected] www.rbu.se [email protected] www.fub.se [email protected] www.afasi.se [email protected] www.dhb.se [email protected] www.fub.se [email protected] www.afasi.se [email protected] www.dhb.se [email protected] www.neuroforbundet.se [email protected] www.reumatikerforbundet.org [email protected] www.ivh.se/TAR [email protected] www.sallsyntadiagnoser.se [email protected] www.rbu.se [email protected] www.rfl-lever.blogspot.se [email protected] www.thalassemia.org.cy [email protected] www.tsc-sverige.se [email protected] www.sallsyntadiagnoser.se [email protected] www.fub.se [email protected] www.autism.se [email protected] www.epilepsi.se [email protected] www.tsc-sverige.se [email protected] www.sallsyntadiagnoser.se [email protected] www.fub.se [email protected] www.autism.se [email protected] www.epilepsi.se [email protected] www.tsc-sverige.se [email protected] www.sallsyntadiagnoser.se [email protected] www.fub.se [email protected] www.autism.se [email protected] www.epilepsi.se [email protected] www.tsc-sverige.se [email protected] www.sallsyntadiagnoser.se [email protected] www.fub.se [email protected] www.autism.se [email protected] www.epilepsi.se [email protected] www.rfl-lever.blogspot.se [email protected] www.fsdb.org [email protected] www.hrf.se [email protected] www.sdr.org [email protected] www.srf.nu [email protected] www.retina-sweden.se [email protected] www.vacterl.com [email protected] www.sallsyntadiagnoser.se [email protected] www.vacterl.com [email protected] www.sallsyntadiagnoser.se [email protected] www.vacterl.com [email protected] www.sallsyntadiagnoser.se [email protected] www.fub.se [email protected] www.srf.nu [email protected] www.aniridi.se [email protected] www.njurforbundet.se [email protected] www.wagr.org [email protected] WAGR Wilms tumör, aniridi, genitala missbildningar och retardation WHIM-syndromet www.fub.se [email protected] www.srf.nu [email protected] www.aniridi.se [email protected] www.njurforbundet.se [email protected] www.wagr.org [email protected] www.fub.se [email protected] www.srf.nu [email protected] www.aniridi.se [email protected] www.njurforbundet.se [email protected] www.wagr.org [email protected] www.pio.nu [email protected] www.slipi.nu www.sissi.nu [email protected] www.esid.org www.ingid.org Warts, hypogammaglobulinemia, infections, and myelokathexis www.pio.nu [email protected] www.slipi.nu www.sissi.nu [email protected] www.esid.org www.ingid.org Zuelzer-Krills syndrom www.pio.nu [email protected] www.slipi.nu www.sissi.nu [email protected] www.esid.org www.ingid.org Williams syndrom Williams-Beurens syndrom Wiskott-Aldrichs syndrom www.williams-syndrom.se [email protected] www.eurowilliams.org [email protected] www.sallsyntadiagnoser.se [email protected] www.fub.se [email protected] www.autism.se [email protected] www.williams-syndrom.se [email protected] www.eurowilliams.org [email protected] www.sallsyntadiagnoser.se [email protected] www.fub.se [email protected] www.autism.se [email protected] www.pio.nu [email protected] www.slipi.nu www.sissi.nu [email protected] www.esid.org www.ingid.org X-kromosombunden hypofosfatemisk rakit X-linked hypophosphatemia XLH Zellwegers syndrom Cerebrohepatorenalt syndrom Zuelzer-Krills syndrom www.xlh.nu [email protected] www.sallsyntadiagnoser.se [email protected] www.xlhnetwork.org [email protected] www.xlh.nu [email protected] www.sallsyntadiagnoser.se [email protected] www.xlhnetwork.org [email protected] www.xlh.nu [email protected] www.sallsyntadiagnoser.se [email protected] www.xlhnetwork.org [email protected] www.ulf.org [email protected] www.ulf.org [email protected] www.pio.nu [email protected] www.slipi.nu www.sissi.nu [email protected] www.esid.org www.ingid.org Atypiskt hemolytiskt uremiskt syndrom www.njurforbundet.se [email protected] www.rareconnect.org Autoimmunt polyendokrint syndrom I och II www.pio.nu [email protected] www.hypofysis.se [email protected] www.addisongruppen.se [email protected] www.hpth.no www.alopeci.se Autosomal dominant leukodystrofi med LMNB1-duplikation Glycinencefalopati Glykogenoser med leverpåverkan www.neuroforbundet.se [email protected] www.fub.se [email protected] www.climb.org.uk [email protected] www.nkh-network.org [email protected] www.sagsd.org [email protected] www.rfl-lever.blogspot.se [email protected] www.agsdus.org [email protected] www.agsd.org.uk www.glykogenose.de Hypokalemisk periodisk paralys Myhres syndrom Neonatal diabetes mellitus www.neuroforbundet.se [email protected] www.rbu.se [email protected] www.fub.se [email protected] www.hrf.se [email protected] www.fub.se [email protected] www.diabetes.se [email protected] www.foraldraforeningenbullerbyn.se [email protected] www.childrenwithdiabetes.com