3M syndrom

16p11.2 delesjon

47 XYY syndrom

Adams-Olivers syndrom

Aicardi-Goutières sykdom

Aicardi syndrom

Akondroplasi

Akrodysostose

Akromesomelisk dysplasi

Akutt intermitterende porfyri (AIP)

Alagille syndrom

Alpers sykdom

Alport syndrom

Amnionbånd syndrom

Androgent insensitivitetssyndrom (AIS)

Angelmans syndrom

Aniridi

Anorektale misdannelser (ARM) / analatresi

Antistoffsvikt

Apert syndrom

Arteriell tortuosity syndrom

Arthrogryposis multiplex congenita (AMC)

Asperger syndrom

Ataxia telangiectasia (AT)

Autisme

Bardet-Biedl syndrom (BBS)

Beckers muskeldystrofi

Beckwith-Wiedemanns syndrom

Blæreekstrofi og epispadi

Brachyolmi

CHARGE syndrom

Campomelisk dysplasi

Cartilage-hair hypoplasia (CHH)

Catel-Manzke syndrom

Charcot-Marie-Tooths sykdom (CMT)

Chondrodysplasia punctata

Congenital contractural arachnodactyli - CCA

Cystisk fibrose

Diastrofisk dysplasi

Dravet syndrom

Duchennes muskeldystrofi

Dysmeli

Dystrofia myotonika type 1

Dystrofia myotonika type 2

Ehlers-Danlos syndrom (EDS)

Ellis-van Crevelds syndrom

Epidermolysis bullosa (EB)

Epilepsi

Erytropoietisk protoporfyri (EPP)

Fabry sykdom

Facioscapulohumeral muskeldystrofi

Familiære thorakale aortaaneurismer og disseksjoner (FTAAD)

Femoralt-facialt syndrom

Fibrodysplasia ossificans progressiva (FOP)

Fibrøs dysplasi

Fragilt X syndrom

GLUT1-mangelsykdom

Hereditær Hemoragisk Telangiektasi (HHT)

Hereditær Spastisk Paraparese (HSP)

Hereditær koproporfyri (HCP)

Holt-Orams syndrom

Huntingtons sykdom

Hypokondroplasi

Idiopatisk hypersomni

Iktyose

Jacobs syndrom

Kjønnskromosomavvik

Kleine-Levin syndrom

Klinefelters syndrom

Kniests dysplasi

Kondroektodermal dysplasi (Ellis-van Crevelds syndrom)

Kongenital erytropoietisk porfyri (CEP)

Kortvoksthet

Lafora sykdom

Landau-Kleffner syndrom (ervervet afasi med epilepsi)

Larsens syndrom

Leri-Weills dyskondrosteose (LWD)

Limb-girdle muskeldystrofi

Lissencefali

Loeys-Dietz' syndrom

Maffuccis syndrom

Marfans syndrom

Mastocytose

McCune-Albrights syndrom

Metafyseal kondrodysplasi - Jansen type

Metakondromatose

Metatrofisk dysplasi

Miller-Diekers syndrom

Multiple osteokondromer (MO) eller multiple hereditære eksostoser (MHE)

Multippel epifyseal dysplasi (MED)

NF 1

Narkolepsi

Nevromuskulære sykdommer

Ohtahara syndrom

Olliers sykdom eller enkondromatose

Oslers sykdom

Osteogenesis imperfecta (OI)

Osteopatia Striata - cranial sclerose syndrom

Overvekstsyndrom

PKU (fenylketonuri)

Periodisk paralyse (PP)

Polands syndrom

Pompes sykdom

Porphyria cutanea tarda (PCT)

Porphyria variegata (PV)

Prader-Willis syndrom

Primær ciliær dyskinesi (PCD)

Progressiv myoklonusepilepsi Nordsjøvarianten (North Sea)

Progressiv pseudorheumatoid dysplasi

Pseudoakondroplasi

Pyknodysostose

Robinows syndrom

Ryggmargsbrokk

Schimke immuno-ossøs dysplasi (SIOD)

Sensenbrenner syndrom

Shprintzen-Goldbergs syndrom

Shwachman-Diamond syndrom

Silver-Russells syndrom

Smith-Magenis’ syndrom

Spedbarnsepilepsi med migrerende fokale anfall

Spinal muskelatrofi

Spinal muskelatrofi med respirasjonsvansker

Spondyloepifyseal dysplasi congenita – SEDC

Spondyloepifyseal dysplasi tarda - SEDT - X-bundet

Spondyloepifyseal dysplasi – SED

Spondyloepimetafyseal dysplasi (SEMD)

Spondylokarpotarsal synostose syndrom

Spondylometafyseal dysplasi (SMD - Kozlowski)

Spondyloperiferal dysplasi

Sturge-Weber syndrom

Stüve-Wiedemanns syndrom

Thrombocytopenia aplasia radii syndrom (TAR-syndrom)

Tidlig myoklon encefalopati

Tourettes syndrom

Trikorhinofalangealt syndrom (TRPS)

Trisomi 13

Trisomi 18

Tuberøs sklerose

Unverricht-Lundborg sykdom

Welanders distale myopati

Williams syndrom

Øsofagusatresi