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» Aicardi-Goutières sykdom
» ALD (adrenoleukodystrofi)
» Aldringstilstander, premature
» Alexanders sykdom
» alfamannosidose
» Alpers sykdom
» Alternerende hemiplegi
» Alvorlig fremadskridende sykdommer som rammer sentralnervesystemet
» AMN (adrenomyelonevropati)
» Angelmans syndrom
» Arvelig spastisk paraplegi
» Aspartylglykosaminuri
» 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
» 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
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