trisomi-18-edwards-syndrom

deletionssyndrom-1p36

microdeletion-16p11-2

deletion-syndrom-18q

deletionssyndrom-22q11

tre-m-syndrom

duplikationssyndrom-7p11-23

abetalipoproteinaemi

adrenogenitalt-syndrom

adrenoleukodystrofi

aicardi-goutieres-syndrom

aicardi-syndrom

akondroplasi

alagilles-syndrom

albrights-hereditaere-osteodystrofi

alexanders-sygdom

alfa-1-antitrypsinmangel

alports-syndrom

alstroms-syndrom

alternerende-hemiplegi

androgen-insensitivitetssyndrom

angelman-syndrom

aperts-syndrom

aplasia-cutis-congenita

argininoravsyreaemi

arthrogryposis-multiplex-congenita

ataxia-telangiektasia

atrx-syndrom

bannayan-riley-ruvalcabas-syndrom

bardet-biedls-syndrom

barraquer-simons-syndrom

bartter-syndrom

beckwith-wiedemanns-syndrom

behr-syndrom

biotinidase-mangel

birt-hogg-dubes-syndrom

blaereektopi-epispadi

blue-rubber-bleb-naevus-syndrom

bohring-opitz-syndrom

cadasil

caffey-syndrom

campomel-dysplasi

canavans-syndrom

carnitin-transporter-defekt

carpenters-syndrom

cdg-syndrom-congenital-disorders-of-glycosylation

charge-syndrom

chondrodysplasia-punctata

citrullinaemi

cleidocranial-dysplasi

cloves-syndrom

cockaynes-syndrom

coffin-siris-syndrom

cofin-lowrys-syndrom

cohen-syndrom

congenital-contractural-arachnodactyly

cornelia-de-langes-syndrom

costello-syndrom

cranium-bifidum

cri-du-chat-syndrom

crouzon-syndrom

cutis-marmorata-telangiectatica-congenita

cystinose

cystinuri

dandy-walkers-syndrom

dariers-sygdom

dercums-sygdom

diamond-blackfans-syndrom

diastrofisk-dysplasi

duane-radial-ray-syndrom

dubowitz-syndrom

dyggve-melchior-clausen-syndrom

ektrodaktyli-ektodermal-dysplasi-og-laebe-ganespalte

ellis-van-creveld-syndrom

emanuels-syndrom

epidermolysis-bullosa

fabrys-sygdom

fanconis-anaemi

fenylketonuri

fg-syndrom

fibrodysplasia-ossificans-progressiva

fibroes-dysplasi

fiskelugt-syndromet

floating-harbor-syndrom

fragilt-x-syndrom

freeman-sheldon-syndrom

friedreichs-ataksi

fukosidose

fumarase-mangel

galaktosaemi

gauchers-sygdom

gillespies-syndrom

glukose-transporter-type-1-defekt

glutaraciduri-type-1

glutaraciduri-type-3

glykogenose-type-1

goldenhar-syndrom

gomez-lopez-hernandez-syndrom

gorlins-sygdom

greigs-cefalopolysyndaktyli

greigs-syndrom

hallerman-streiff-syndrom

hartnup-sygdom

hemihyperplasi-isoleret

hereditaert-angiooedem

hereditaer-trykbetinget-neuropati

holoprosencefali

holt-orams-syndrom

homocystinuri

hunter-syndrom

huntingtons-sygdom

hurler-scheie-syndrom

hurler-syndrom

hyper-igd-syndrom

hypofosfatasi

hypohidrotisk-ectodermal-dysplasi

incontinentia-pigmenti

isovalerianesyreaemi

jacobsens-syndrom

jeunes-syndrom

jobs-syndrom

jouberts-syndrom

kabuki-syndrom

kallmanns-syndrom

karbamylfosfat-syntase-defekt

kardiofaciokutane-syndrom

kaudalt-regressionssyndrom

kbg-syndrom

kearns-sayre-syndrom

kindlers-syndrom

kleefstras-syndrom

klinefelters-syndrom

klippel-feils-syndrom

klippel-trenaunays-syndrom

kloeverbladskranium

kongenit-central-hypoventilationssyndrom

koolen-de-vries-syndrom

krabbes-sygdom

kromosom-9p-deletionssyndrom

kufs-sygdom

lammelaer-iktyosis

langkaedet-tre-hydroxy-acyl-coa-dehydrogenase-mangel

larsen-syndrom

lebers-hereditaere-optikus-neuropati

leigh-syndrom

lesch-nyhans-syndrom

lowes-syndrom

loyes-dietz-syndrom

lysosomale-sygdomme

machado-josephs-sygdom

madelung-deformitet

maffuccis-syndrom

mannosidose

maple-syrup-urine-disease

marfans-syndrom

maroteux-lamy-syndrom

masa

mcardles-sygdom

mccune-albrights-syndrom

mecp2-duplikationssyndrom

med13l-relateret-udviklingshaemning

medfoedte-multiple-eksostoser

megaloencefal-leukoencefalopati-med-subkortikale-cyster

meget-langkaedet-acyl-coa-dehydrogenase-mangel

melas

mellemkaedet-acyl-coa-dehydrogenase-defekt

melnick-needles-syndrom

menkes-sygdom

merrf

metafysaer-kondrodysplasi-type-jansen

metakondromatose

metakromatisk-leukodystrofi

methylcrotonyl-coa-carboxykase-mangel

methylentetrahydrofolat-reduktase-defekt

methylglutaconsyreaemi

methylmalonsyreaemi

mikrocefal-osteodysplastisk-primordial-dvaergvaekst-type-1

mikrocef-osteodysplastisk-primordial-dvaergvaekst-type-2

milroys-sygdom

mitokondriesygdomme

mohr-tranebjaergs-syndrom

morquios-sygdom

mowat-wilson-syndrom

muckle-wells-syndrom

mucopolysakkaridose

muenkes-syndrom

mukolipidoser

multipel-epifysedysplasi

multipel-karboxylase-mangel

multipel-sulfatasemangel

moebius-syndrom

negl-patella-syndrom

neurofibromatose-type-1

neurofibromatose-type-2

neuromyelitis-optica-devics-sygdom

nievergelts-syndrom

nonketotisk-hyperglycinaemi

noonan-syndrom

norries-sygdom

okulodentodigital-dysplasi

okulokutan-albinisme

okulaer-albinisme-type-1

olliers-syndrom

opitz-g-bbb-syndrom

ornithin-transkarbamylase-defekt

orofaciodigitalt-syndrom-type-1

osteopathia-striata-with-cranial-sclerosis-oscs

pallister-halls-syndrom

pallister-killian-syndrom

pandas-pans

parry-rombergs-syndrom

patau-syndrom

pearsons-syndrome

pelizaeus-merzbacher-sygdom

pena-shokeirs-syndrom-type-1

pendred-syndrom

peroxisomal-biogenese-sygdomme

peutz-jeghers-syndrom

phace-syndrom

phelan-mcdermid-syndrom

pierre-robin-sekvens

pitt-hopkins-syndrom

polands-syndrom

pompes-sygdom

pontocerebellar-hypoplasi-type-2

potocki-lupskis-syndrom

prader-willis-syndrom

primaer-hyperoxaluri-type-1

progeria

proksimal-fokal-femurdefekt

prolidase-defekt

propionsyreaemi

proteus-syndrom

prune-belly-syndrom

pseudoxanthoma-elasticum

pyknodysostose

pyruvat-dehydrogenase-mangel

pyruvatkinase-mangel

refsums-sygdom

respirationskaededefekter-kompleks-i-v

retts-syndrom

ritscher-schinzels-syndrom

robinows-syndrom

rothmund-thomsons-syndrom

rubinstein-taybi-syndrom

sallas-sygdom

sandhoffs-sygdom

sanfilippo-syndrom

scheie-syndrom

schwannomatose

seckels-syndrom

septooptisk-dysplasi

shprintzen-goldbergs-syndrom

shwachman-diamond-syndrom

silver-russell-syndrom

simpson-golabi-behmel-syndrom

slys-syndrom

smith-lemli-opitz-syndrom

smith-magenis-syndrom

sneddon-syndrom

sotos-syndrom

spielmeyer-vogt-syndrom

spinal-muskelatrofi

spondyleopifysaer-dysplasi

stargardts-sygdom

sticklers-syndrom

sturge-webers-syndrom

sulfitoxidase-mangel

susacs-syndrom

tar-syndrom

tay-sachs-sygdom

thanatofor-dysplasi

tibia-aplasia-ektrodaktyli

treacher-collins-syndrom

trichorhinophalangealt-syndrom-type-1

trichorhinophalangeal-syndrom-type-ii

trisomi-14-mosaik

turners-syndrom

tyrosinaemi-type-1

tyrosinaemi-type-2

unverricht-lundborg-sygdom

urinstofcyklus

ushers-sygdom

vacterl

vaskulaer-ehlers-danlos-syndrom

von-hippel-lindaus-sygdom

waardenburg-syndrom-type-1

wagr-syndrom

walker-warburgs-syndrom

wiedermann-steiner-syndrom

wildervanck-syndrome

williams-syndrom

wolf-hirshhorn-syndrom

wolframs-syndrom

x-bunden-hypofosfataemisk-rakit

xeroderma-pigmentosum

yellow-nail-syndrom

aagenaes-syndrom

aarskog-syndrom