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» Glutarsyreuri type 1
» glycosylasparginasemangel
» GM 2
H
» Hemihypertrofisyndromer
» Hemiplegi, alternerende
» Hereditær spastisk paraparese
» Hereditære ataxier
» hereditære motoriske og sensoriske nevropatier
» HMSN
» HMSN type V
» HSP
» Hunters sykdom
» Hurlers sykdom
» Hvit substans sykdommer
I
» I-cellesykdom
» INCL
» Infantil GM2
» Infantil neuroaksonal dystrofi
» Infantil neuronal ceroid lipofuscinose
J
» JNCL
» Jouberts syndrom og relaterte sykdommer
» Juvenil nevronal ceriod lipofucinose
K
» Kallmanns syndrom
» Karbohydratdefekt glykoproteinsykdom
» Kearn-Sayres' syndrom
» Kinky hair syndrome
» Kjønnskromosomforstyrrelse
» Kleefstra syndrom
» Klinefelters syndrom
» Klippel-Trénaunay-Webers syndrom
» Klippel-Trénaunays syndrom
» Krabbes sykdom
» Kromosom 22q11 delesjonssyndromet
» Kromosom 22Q11-syndrom
» Kromosom 5p- syndrom
» Kromosom XXX
» Kromosomavvik, svært sjeldne med utviklingshemning
L
» Lebers hereditære opticusnevro-retinopati
» Leighs sykdom
» Lesh-Nyhans syndrom
» Leukodystrofier
» LGMD (Limb-girdle muskeldystrofi)
» LHON
» Limb-girdle muskeldystrofi
» Lissencephali
» Louis-Bars syndrom
M» Mannosidose » Marinesco-Sjögrens syndrom » Maroteaux-Lamys sykdom » Medfødte glykosyleringsforstyrrelser » Medfødte muskelsykdommer » MELAS » Menkes' syndrom » MERFF » Metakromatisk leukodystrofi » Migrasjonsforstyrrelser » Miller-Diekers syndrom » Mitokondrie-encephalopati » Mitokondrie-encephalopati med laktasidose og slagliknende episoder (MELAS) » Mitokondrie-nevrogastrointestinal encefalomyopati » Mitokondrielle sykdommer » Mitokondriemyopatier » Mitokondriesykdommer » MLD » MNGIE » Morquios sykdom » MPS I » MPS I S » MPS II » MPS III » MPS IV » MPS IX » MPS VI » MPS VII » MPS-sykdommer » Mukolipidose type I » Mukolipidose type II og III » Mukopolysakkaridoser » Muskeldystrofi, medfødt » Muskelsykdommer » Myopati, encephalopati og "ragged red fibres" » Möbius' syndrom
N» Nevrofibromatose type 1 » Nevrofibromatose type 2 » Nevromuskulære sykdommer » Nevronal ceroid lipofuscinose (NCL) » NF 1 » NF 2 » Niemann-Picks sykdom » Noonans syndrom
O» Ornitintranscarbamylasemangel » OTD » Overvekstsyndromer
P» Panthothenate kinase-assosiert nevrodegenerativ sykdom (PKAN) » Pataus syndrom » Pearsons syndrom » Pelizaeus-Merzbachers sykdom » Perifer nevropati med spastisk paraplegi » Phelan-McDermids syndrom » PKAN » PMD » PNDC » Polynevropatier, arvelige » Pompes sykdom » Prader-Willis syndrom » Premature aldringstilstander » Progeria » Progressiv infantil poliodystrofi » Proteus' syndrom » Pseudo-Hurler polydystrofi
QR» Retts syndrom » Rubinstein-Taybis syndrom
S» Sandhoffs sykdom » Sanfilippos sykdom » Santavuori-Haltias sykdom » Scheies sykdom » Schwannomatose » Seitelbergers sykdom » Seninfantil nevronal ceroid lipofuscinose » Sialidose » Skulder-bekken muskeldystrofi » Slys sykdom » SMA » Smith-Magenis syndrom » Sotos' syndrom » Spielmeyer-Vogts sykdom » Spinal muskelatrofi » Spongiform leukoencefalopati » Steinerts sykdom
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