http://rarelink.is 

      

Alternating hemiplegia of childhood

http://www.greining.is/fraedsluefni/ahc/

http://www.ahc.is/

Arnold-Chiari syndrome

rarediseases.info.nih.gov

Brown-Vialetto-Van-Laere-syndrome
http://www.ojrd.com/content/7/1/83

CP

greining.is

CTD- carnitinetransport disease

http://www.newbornscreening.info/Parents/fattyaciddisorders/CTD%20update%202011.pdf

Cystic Fibrosis-Slímseigjusjúkdómur 

http://www.laeknabladid.is/2008/12/nr/3352

Dandy Walker

http://www.ninds.nih.gov/disorders/dandywalker/dandywalker.htm

http://rarediseases.info.nih.gov/GARD/Condition/6242/DandyWalkercomplex.aspx

Dravet heilkenni

http://www.ninds.nih.gov/disorders/dravet_syndrome/dravet_syndrome.htm

http://dravet.is/

Duchenne vöðvahrörnunarsjúkdómur

http://www.greining.is/is/fraedsla-og-namskeid/fraedsluefni/duchenne-vodvaryrnun

Flogaveiki 

Til eru margar mismunandi tegundir af flogaveiki.  Flogaveiki sem svarar ekki hefðbundnum flogaveikilyfjum er stundum kölluð illvíg flogaveiki.

http://rarediseases.info.nih.gov/SiteSearch.aspx?cx=005397861655333639211%3A7fgwsd-f8fu&cof=FORID%3A11%3BNB%3A1&ie=UTF-8&q=epilepsy

Golden Haar

http://www.greining.is/fraedsluefni/goldenhar-heilkenni/

Ichthyosis vulgaris

http://rarediseases.info.nih.gov/GARD/Condition/6752/Ichthyosis_vulgaris.as

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Infantile Neuroaxonal Dystrophy

https://rarediseases.org/rare-diseases/infantile-neuroaxonal-dystrophy/

Lissencephaly

http://www.frambu.no/modules/diagnoser/diagnose.asp?iDiagnoseId=280

http://rarediseases.about.com/od/rarediseasesl/a/lissencephaly.htm

Moebius Syndrome

http://www.childrenshospital.org/conditions-and-treatments/conditions/m/moebius-syndrome/treatments

Neurfibromatosis

http://www.greining.is/fraedsluefni/um-hreyfihamlanir/neurofibromatosis-1/

Ohtahara

http://www.ninds.nih.gov/disorders/ohtahara/ohtahara.htm

Prader Willi

http://www.greining.is/fraedsluefni/um-throskahamlanir/prater-willi-heilkenni/

Retts syndrome

http://www.frambu.no/modules/diagnoser/diagnose.asp?iDiagnoseId=42&mids=

http://rettenglar.yolasite.com/

SMA 

http://www.greining.is/fraedsluefni/um-hreyfihamlanir/spinal-muscular-atrophy-sma/

Tetralogy of Fallot

http://rarediseases.info.nih.gov/GARD/Condition/2245/Tetralogy_of_Fallot.aspx

Þroskahömlun

http://www.greining.is/fagsvid/fagsvid-throskahamlana/um-throskahomlun/

Vacterl syndrome

http://www.greining.is/fraedsluefni/vacterl-heilkenni/