1p36 deletionssyndrom
16p11.2 deletionssyndrom
18q deletion syndrom
22q11 deletion-syndrom
3M syndrom
7q11.23 duplikationssyndrom
Abetalipoproteinæmi
Adrenogenitalt syndrom
Adrenoleukodystrofi
Aicardi-Goutières' syndrom
Aicardi syndrom
Akondroplasi
Alagilles syndrom
Albrights hereditære osteodystrofi
Alexanders sygdom
Alfa-1 antitrypsinmangel
Alports syndrom
Alströms syndrom
Alternerende hemiplegi
Androgen insensitivitetssyndrom
Angelmans syndrom
Aperts syndrom
Aplasia cutis congenita
Argininoravsyreæmi
Arthrogryposis multiplex congenita
Ashermans syndrom
Ataxia telangiektasia
ATRX syndrom
Bannayan-Riley-Ruvalcabas syndrom
Barraquer-Simons' syndrom
Bartter syndrom
Beckwith-Wiedemanns syndrom
Behrs syndrom
Biotinidase mangel
Birt-Hogg-Dube syndrom
Blæreekstrofi/epispadi
Blue rubber bleb nævus
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
Citrullinæmi
Cleidocranial dysplasia
CLOVES syndrom
Cockaynes syndrom
Coffin-Lowrys syndrom
Coffin-Siris' syndrom
Cohen syndrom
Congenital contractural arachnodactyly
Cornelia de Langes syndrom
Costellos 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-Clausens syndrom
Ektrodaktyli, Ektodermal dysplasi og læbe-gane-spalte
Ellis-van Creveld
Emanuels syndrom
Epidermolysis bullosa
Fabrys sygdom
Fanconis anæmi
Fenylketonuri
FG syndrom
Fibrodysplasia ossificans progressiva
Fibrøs dysplasi
Fiskelugt syndromet
Floating Harbor syndrom
Fragilt X-syndrom
Freeman-Sheldon syndrom
Friedreichs ataksi
Fukosidose
Fumarase mangel
Galaktosæmi
Gauchers sygdom
Gillespies syndrom
Glukose transporter type 1 defekt
Glutaraciduri type 1
Glutaraciduri type 3
Glykogenose type 1
Goldenhars syndrom
Gomez-Lopez-Hernandez syndrom
Gorlins syndrom
Greigs cefalopolysyndaktyli
Greigs syndrom
Hallermann-Streiff syndrom
Hartnup sygdom
Hemihyperplasi (isoleret)
Hereditært angioødem
Hereditær trykbetinget neuropati
Holoprosencefali
Holt-Orams syndrom
Homocystinuri
Hunters syndrom
Huntingtons sygdom
Hurler-Scheie syndrom
Hurler syndrom
Hyper-IgD syndrom
Hypofosfatasi
Hypohidrotisk ectodermal dysplasi
Incontinentia pigmenti
Isovalerianesyreæmi
Jacobsens syndrom
Jeunes syndrom
Jobs syndrom
Jouberts syndrom
Kabuki-syndrom
Kallmanns syndrom
Karbamylfosfat syntase defekt
Kardiofaciokutane syndrom
Kaudalt regressionssyndrom
KBG syndrom
Kearns-Sayres syndrom
Kindlers syndrom
Kleefstras syndrom
Klinefelters syndrom
Klippel-Feils syndrom
Klippel-Trénaunays syndrom
Kløverbladskranium
Kongenit central hypoventilationssyndrom
Koolen-de Vries' syndrom
Krabbes sygdom
Kromosom 9p deletionssyndrom
Kufs sygdom
Lamellær ichthyosis
Langkædet 3-hydroxy-acyl-CoA dehydrogenase mangel
Larsen syndrom
Lebers hereditære optikus neuropati
Leighs syndrom
Lesch-Nyhans syndrom
Loeys-dietz' syndrom
Lowes syndrom
Lysosomale sygdomme
Machado-Joseph sygdom
Madelung-deformitet
Maffuccis syndrom
Mannosidose
Maple syrup urine disease (Ahornsirup-urin sygdom)
Marfans syndrom
Maroteux-Lamys syndrom
MASA
McArdles sygdom
McCune-Albright syndrom
MECP2 duplikationssyndrom
MED13L-relateret udviklingshæmning
Medfødte multiple eksostoser
Megaloencefal leukoencefalopati med subkortikale cyster
Meget langkædet acyl-CoA dehydrogenase mangel
MELAS
Mellemkædet acyl-CoA dehydrogenase defekt
Melnick-Needles syndrom
Menkes sygdom
MERRF
Metafysær kondrodysplasi, type Jansen
Metakondromatose
Metakromatisk leukodystrofi
Metylkrotonyl-CoA karboxylase mangel
Methylentetrahydrofolat reduktase defekt
Metylglutakonsyreæmi
Methylmalonsyreæmi
Mikrocefal osteodysplastisk primordial dværgvækst type 1
Mikrocefal osteodysplastisk primordial dværgvækst type 2
Milroy sygdom
Mitokondriesygdomme
Mohr-Tranebjærgs syndrom
Morquios sygdom
Mowat-Wilson syndrom
Muckle-Wells syndrom
Muenkes syndrom
Mukolipidoser
Mukopolysakkaridoser
Multipel epifysedysplasi
Multipel karboxylase mangel
Multipel sulfatasemangel
Möbius' syndrom
Negl-patella syndrom
Neuralrørsdefekter
Neurofibromatose type 1
Neurofibromatose type 2
Neuromyelitis optica - Devics sygdom
Nievergelts syndrom
Nonketotisk hypeglycinæmi
Noonans syndrom
Norries sygdom
Okulodentodigital dysplasi
Okulokutan albinisme
Okulær albinisme
Olliers syndrom
Opitz G/BBB syndrom
Ornithin transkarbamylase defekt
Orofaciodigitalt syndrom type 1
Osteogenesis imperfecta
Osteopathia stratia with cranial sclerosis (OSCS)
Osteopetrose
Pallister-Halls syndrom
Pallister-Killian syndrom
PANDAS/PANS
Parry-Rombergs syndrom
Pataus syndrom
Pearsons syndrome
Pelizaeus-Merzbachers sygdom
Pena-Shokeirs syndrom, type 1
Pendred syndrom
Peroxisomal biogenese sygdomme
Peutz-Jeghers syndrom
PHACE-syndrom (PHACES-syndrom)
Phelan-McDermids syndrom
Pierre Robin-sekvens
Pitt-Hopkins syndrom
Polands syndrom
Pompes sygdom
Pontocerebellar hypoplasi type 2
Potocki-Lupskis syndrom
Prader-Willi syndrom
Primær hyperoxaluri type 1
Progeria
Proksimal fokal femurdefekt
Prolidase defekt
Propionsyreæmi
Proteus syndrom
Prune belly syndrom
Pseudoxanthoma elasticum
Pyknodysostose
Pyruvat dehydrogenase mangel
Pyruvatkinase mangel
Refsums sygdom
Respirationskædedefekter (Kompleks I-V defekter)
Retts syndrom
Ritscher-Schinzels syndrom
Robinows syndrom
Rothmund-Thomsons syndrom
Rubinstein-Taybi syndrom
Sallas sygdom
Sandhoffs sygdom
Sanfilippos syndrom
Scheies syndrom
Schwannomatose
Seckels syndrom
Septooptisk dysplasi
Shprintzen-Goldberg 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-Vogts syndrom
Spinal muskelatrofi
Spondyloepifysær dysplasi
Stargardts sygdom
Sticklers syndrom
Stiff person syndrom
Sturge-Webers syndrom
Sulfitoxidase mangel
Susacs syndrom
TAR syndrom
Tay-Sachs' sygdom
Thanatofor dysplasi
Tibial aplasia ectrodactyli
Treacher Collins' syndrom
Trichorhinophalangealt syndrom type 1
Trichorhinophalangeal syndrom type II
Trisomi 14 mosaik
Trisomi 18, Edwards' syndrom
Tuberøs sklerose
Turners syndrom
Tyrosinæmi type 1
Tyrosinæmi type 2
Urinstofcyklusdefekter
Unverricht-Lundborg sygdom
Ushers syndrom
VACTERL
Vaskulær Ehlers-Danlos' syndrom
Von Hippel-Lindaus sygdom
Waardenburg syndrom type 1
WAGR syndrom
Walker-Warburgs syndrom
Wiedemann-Steiners syndrom
Wildervanck syndrome
Williams' syndrom
Wolf-Hirschhorn syndrom
Wolframs syndrom
X-bunden hypofosfatæmisk rakitis
Xeroderma pigmentosum
Yellow-Nail syndrom
Aagenæs' syndrom
Aarskogs syndrom