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» 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

Q

R

» 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
» Subakutt nekrotiserende encefalopati
» Svært sjeldne kromosomavvik med utviklingshemning

T

» Takaos syndrom
» Tay-Sachs' sykdom
» Trippel X
» Trisomi 13
» Trisomi 18
» Turners syndrom

U

» Uten kjent diagnose(fremadskridende)
» Utviklingshemning uten kjent årsak

V

» VCFS
» Velocardiofacialt syndrom
» Velokardiofasialt syndrom
» Vestibulær schwannomatose
» von Hippel-Lindaus syndrom
» von Recklinghausens sykdom

W

» Weavers syndrom
» Werdnig-Hoffmanns sykdom
» White Matter Diseases
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