0-9» 22q11 syndrom
» 22q13 syndrom
» 47 XXX
» 47 XXY syndrom
» 47 XYY syndrom
» 48 XXYY syndrom
» 49 XXXXY syndrom
» 4p- syndrom
» 5p- delesjonssyndrom
A» Adrenoleukodystrofi
» Adrenomyelonevropati
» 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
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