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» Ataksier, arvelige
» Ataxia telangiektasia
B
» Battens sykdom
» Beckers muskeldystrofi
» Beckwith-Wiedemanns syndrom
» betamannosidose
» BMD (Beckers muskeldystrofi)
» Brachmann-de Langes syndrom
C
» Canavans sykdom
» CDG
» Cerebral gigantisme
» Charcot-Marie-Tooths sykdom
» CLN3
» CMD
» CMT
» Cockaynes syndrom
» Cohens syndrom
» Congenitt muskeldystrofi
» Conotruncal Anomali Face syndrom
» Cornelia de Langes syndrom
» Cri du chat syndrom
D
» Dejerine-Sottas sykdom (CMT type 3)
» DiGeorges syndrom
» Duchennes muskeldystrofi
» Dystrofia myotonika
» Dystrofia myotonika type 1
» Dystrofia myotonika type 2
E
» EDMD
» Edwards syndrom
» Emery-Dreyfuss' muskeldystrofi
F
» Facio-scapulo-humeral muskeldystrofi
» Fahrs sykdom
» Fragilt X syndrom
» FRDA (Friedreichs ataksi)
» Friedreichs ataksi
» Fukosidose
G
» Gangliosidose type II
» Globoidcelleleukodystrofi (GLD)
» Glutarsyreemi
» Glutarsyreuri
» Glutarsyreuri type 1
» glycosylasparginasemangel
» GM 2
H
» Hemihypertrofisyndromer
» Hemiplegi, alternerende
» Heredit鎟 spastisk paraparese
» Heredit鎟e ataxier
» heredit鎟e 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
» Kj鴑nskromosomforstyrrelse
» Kleefstra syndrom
» Klinefelters syndrom
» Klippel-Tr閚aunay-Webers syndrom
» Klippel-Tr閚aunays syndrom
» Krabbes sykdom
» Kromosom 22q11 delesjonssyndromet
» Kromosom 22Q11-syndrom
» Kromosom 5p- syndrom
» Kromosom XXX
» Kromosomavvik, sv鎟t sjeldne med utviklingshemning
L
» Lebers heredit鎟e opticusnevro-retinopati
» Leighs sykdom
» Lesh-Nyhans syndrom
» Leukodystrofier
» LGMD (Limb-girdle muskeldystrofi)
» LHON
» Limb-girdle muskeldystrofi
» Lissencephali
» Louis-Bars syndrom
M» Mannosidose » Marinesco-Sj鰃rens syndrom » Maroteaux-Lamys sykdom » Medf鴇te glykosyleringsforstyrrelser » Medf鴇te 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, medf鴇t » Muskelsykdommer » Myopati, encephalopati og "ragged red fibres" » M鯾ius' syndrom
N» Nevrofibromatose type 1 » Nevrofibromatose type 2 » Nevromuskul鎟e 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
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