Syndromen

• 1p deletie syndroom

• 1p duplicatie syndroom

• 1p36 deletie syndroom

• 1q21 microdeletie syndroom

• 1q21 microduplicatie syndroom

• 3p25 deletie syndroom

• 3q29 duplicatie syndroom

• 4q duplicatie syndroom

• 9p deletie syndroom

• 9p24 deletie syndroom

• 10q22q23 duplicatie syndroom

• 11q duplicatie syndroom

• 15q11-q13 duplicatie syndroom

• 15q13.3 microdeletie syndroom

• 15q24 deletie syndroom

• 16p11.2 syndroom

• 16p13.11 duplicatie syndroom

• 17q12 deletie syndroom

• 18p-tetrasomie syndroom

• 18q-deletie syndroom

• 19q13.11 deletie syndroom

• 21q deletie syndroom

• 49XXXXY-syndroom

• Aarskog-syndroom

• Achrondroplasie

• ACSL4 syndroom

• AGO2-syndroom

• Aicardi-syndroom

• Aicardi-Goutières syndroom

• Allan Herndon Dudley syndroom

• ALS2-syndroom

• Alstrom-syndroom

• Angelman syndroom

• ANK3-syndroom

• ARHGEF2-syndroom

• ARHGEF6-syndroom

• ARHGEF9-syndroom

• Arthrogryposis multiplex congenita

• ASH1L-syndroom

• ATP1A3-syndroom

• ATP8A2-syndroom

• ATR-X syndroom

• Au Kline syndroom

• AUTS2- syndroom

• Bainbridge Ropers syndroom

• Baraitser-Winter syndroom

• Bardet-Biedl syndroom

• BCAP31-syndroom

• Beals syndroom (congenitale contractural arachnodactyly)

• Beaulieu-Boycott-Innes syndroom

• Beckwith Wiedemann syndroom

• Björeson Forsmann Lehman syndroom

• Bohring-Opitz syndroom

• Bosch-Boonstra-Schaaf-syndroom

• BPAN

• BRSK2-syndroom

• Brugada syndroom

• BRMUTD (fout in NFIA-gen)

• Brunner syndroom

• CACNA1A-syndroom

• CACNA1E-syndroom

• CAMTA1-syndroom

• Cantu-syndroom

• CAPOS

• Cayler syndroom

• Cardio-Facio-Cutaneus syndroom (CFC-syndroom)

• CBL-syndroom

• CDK13-syndroom

• CDK16-syndroom

• CELF4-syndroom

• Cerebellair cognitief affectief syndroom (CCAS)

• CHARGE-syndroom

• CHD2-syndroom

• CHD3-syndroom

• CHD4-syndroom

• CHD8-syndroom

• Chitayat syndroom

• Christianson syndroom

• Chung Jansen syndroom

• Claes-Jensen syndroom

• CLOVES

• CNOT3-syndroom

• Cockayne syndroom

• Coffin Lowry syndroom

• Coffin Siris syndroom

• Cohen syndroom

• COL4A1-syndroom

• COL4A2-syndroom

• COL4A3BP-syndroom

• congenitaal centraal hypoventilatie syndroom

• congenitaal hyperinsulinisme syndroom

• congenitaal redcutiedefect syndroom

• Congenitaal perisylvian syndroom

• Cornelia de Lange syndroom

• CONDSIAS

• Costello syndroom

• Cowden syndroom

• Cri-du-chat syndroom

• CTNNB1-syndroom

• Culler-Jones syndroom

• Currarino syndroom

• CUX1-syndroom

• DCC-syndroom

• DDCH-syndroom

• DDX3X-syndroom

• DEE84-syndroom

• Diets-Jongsmans syndroom

• DNM1-syndroom

• Desanto Shinawi syndroom

• Down syndroom

• DYRK1A syndroom

• Edwards syndroom

• EFMR-syndroom

• Ehlers-Danlos syndroom

• Fahr syndroom

• FBXO11 syndroom

• FG-syndroom

• Fliedner-Zweier syndroom

• Foetaal alcohol syndroom

• FOXG1-syndroom

• FOXP1-syndroom

• FOXP2-syndroom

• Fragiele-X syndroom

• FRMPD4-syndroom

• GABRB1-syndroom
  

• GABRG2-syndroom
  

• Galloway-Mowat syndroom

• GAND-syndroom

• Gitelman syndroom

• Glass-syndroom

• GNAO1-syndroom

• GNB1-syndroom

• Goldenhar syndroom

• Gorlin syndroom

• GPAA1-syndroom

• Grange syndroom

• Greig syndroom

• GRIN1 syndroom

• GRIN2A syndroom

• GRIN2B syndroom

• GUBS-syndroom

• HADDS

• Hao-Fountain syndroom

• HDAC4-syndroom

• Hecht syndroom

• Helsmoortel van der Aa syndroom

• HNRNPU syndroom

• Horizontale blikparese en progressieve scoliose (HGPPS syndroom)

• IARS2-syndroom

• ICCA syndroom

• IDDAS-syndroom

• IDDDFP syndroom

• Infantiel leverfalen syndroom

• ITNS1 syndroom

• Isaac syndroom

• Joubert-syndroom

• Kabuki-syndroom

• KAT6A-syndroom

• KCNMA1-syndroom

• KCNT1-encefalopathie

• KCNQ2-encefalopathie

• KDM1A-syndroom

• KDM3B-syndroom

• KDM4B-syndroom

• KDM5C-syndroom

• KDM6B-syndroom

• KBG-syndroom

• KIF1A-syndroom

• Kleefstra-syndroom

• Klinefelter-syndroom

• Klippel-Feil syndroom

• Klippel Trenaunay syndroom

• KMT2B-syndroom

• Kohlschutter-Tonz syndroom

• Koolen-de Vries syndroom

• Lamb Shaffer syndroom

• LAMC3-syndroom

• Leucoencefalopathie met hersen Calcificaties en Cysten (LCC)

• Legius syndroom

• Leopard syndroom

• Liang-Wang syndroom

• Li-Fraumeni syndroom

• Lison-syndroom

• Loeys Dietz syndroom

• Lowe syndroom

• Lujan syndroom

• Mabry-syndroom

• MACF1-syndroom

• Macrocefalie Capillaire Malformatie syndroom

• MAPK8IP3-syndroom

• Marfan-syndroom

• Marinesco-Sjögren syndroom

• Marshall-syndroom

• MAST1-syndroom

• MCAHS1-syndroom

• MCAHS2-syndroom

• MCAP-syndroom

• McCune Albirght syndroom

• MCT8 syndroom

• MECP2-duplicatie syndroom

• MED12-gerelateerd syndroom

• MEF2C-syndroom

• Menke-Hennekam syndroom

• MICPCH-syndroom

• Miller-Dieker syndroom

• Mowat-Wilson syndroom

• Mozaiek trisomie 9

• MPPH syndroom

• MRD1 syndroom (fout in MBD5-gen)

• MRD13 syndroom (fout in DYNC1H1-gen)

• MRD17 syndroom (fout in PACS1-gen)

• MRD18 syndroom (fout in GATAD2B-gen)

• MRD21 syndroom (fout in CTCF-gen)

• MRD29 syndroom (fout in SETBP1-gen)

• MRD30 syndroom (fout in ZMYND11-gen)

• MRD35 syndroom (fout in PPP2R5D-gen)

• MRD42 syndroom (fout in GNB1-gen)

• MRD45 syndroom (fout in CIC-gen)

• MRD46 syndroom (fout in KCNQ5-gen)

• MRD47 syndroom (fout in STAG1-gen)

• MRD48 syndroom (fout in RAC1-gen)

• MRD49 syndroom (fout in TRIP12-gen)

• MRD50 syndroom (fout in NAA15-gen)

• MRD51 syndroom (fout in KMT5B-gen)

• MRD52 syndroom (fout in ASH1L-gen)

• MRD53 syndroom (fout in CAMK2A-gen)

• MRD54 syndroom (fout in CAMK2B-gen)

• MRD55 syndroom (fout in NUS1-gen)

• MRD56-syndroom (fout in het CLTC-gen)

• MRD57 syndroom (fout in TLK2-gen)

• MRD58 syndroom (fout in SET-gen)

• MRD59 syndroom (fout in CAMK2G-gen)

• MRD61 syndroom (fout in MED13-gen)

• MRD62 syndroom (fout in DLG4-gen)

• MRX3-yndroom (fout in HCFC1-gen)

• MRX-21syndroom (fout in IL1RAPl1-gen)

• MRX-30syndroom (fout in PAK3-gen)

• MRX-33syndroom (fout in ARX-gen)

• MRX-41 syndroom (fout in GDI1-gen)

• MRX-89 syndroom (fout in ZNF41-gen)

• MRX-93 syndroom (fout in BRWD3-gen)

• MRX-94 syndroom (fout in GRIA3-gen)

• MRX-96 syndroom (fout in SYP-gen)

• MRX-97 syndroom (fout in ZNF711-gen)

• MRX-98 syndroom (fout in NEXMIF-gen)

• MRX-101 syndroom (fout in MID2-gen)

• MRXS13 syndroom

• MRXST syndroom

• MSSP syndroom

• MYT1L syndroom

• NALCN syndroom

• Nance-Horan syndroom

• NBEA-syndroom

• NEDBA-syndroom

• NEDDFL-syndroom

• Nicolaides-Baraitser syndroom

• Nijmegen breuk syndroom

• NKX2-1syndroom

• NOG-gerelateerd syndroom

• Noonan syndroom

• Noonan-like syndroom

• O'Donnell-Luria-Rodan syndroom

• Ogden syndroom

• OHDO syndroom

• Okur Chung syndroom

• OPHN1-syndroom

• Opitz-Kaveggia syndroom

• Ortner syndroom

• Osteopathia striata

• Pallister-Hall syndroom

• Pallister-Killian syndroom

• Pontocerebellaire hypoplasie (PCH)

• PCH type 2

• PCDH12-syndroom

• PDE10A-syndroom

• Pelizaeus-Merzbacher

• PHACE syndroom

• PHARC:polyneuropathie, hearing loss, ataxia, retinitis pigmentosa and cataract

• Phelan Mc Dermid syndroom

• PHIP-syndroom

• PIGA-syndroom

• PIGN-syndroom

• PIGU-syndroom

• Pierpont syndroom

• Pierre Robin syndroom

• Pilarowski-Bjoronsson syndroom

• Pitt Hopkins syndroom

• PLAN (PLA2G6-geassocieerde neurodegeneratie)

• Poland syndroom

• Poretti Boltshauser syndroom

• Poirier-Bienvenu syndroom

• Potocki Lupski syndroom

• PPP1R12A-syndroom

• PPP2CA-syndroom

• PPM1D-syndroom

• Prader-Willi syndroom

• PRELDS syndroom

• PRRT2-syndroom

• Primrose syndroom

• PTCHD1-syndroom

• PURA syndroom

• Radio-Tartaglia syndroom

• Raynaud-Claes syndroom

• RERE-syndroom

• Rett-syndroom

• RHOBTB2-syndroom

• ROHHADNET-syndroom

• RTTN syndroom

• Rubinstein Taybi syndroom

• Sanjad-Sakati syndroom

• SATB2-syndroom

• SCA3

• SCA7

• SCA17

• SCA19

• SCA29

• SCA35

• SCAR20

• Schaaf-Yang syndroom

• Schimke syndroom

• Schuurs Hoeijmakers syndroom

• Schwachman-diamond syndroom

• Schwannomatose

• SCN2A-syndroom

• SCN5A-syndroom

• SCN8A-syndroom

• Seckel syndroom

• SEDC Spondylo Epiphyseal Dysplasia Congenita

• Sensenbrenner syndroom

• Septo-optische dysplasie

• SETD1A syndroom

• SETD1B-syndroom

• SETD5 syndroom

• SHANK2-syndroom

• Sifrim-Hitz-Weiss syndroom

• Silver Russell syndroom

• Simpson Golabi Behmel syndroom

• SINO-syndroom

• Sjögren Larsson syndroom

• Skraban-Deardorff syndroom

• SLC6A1-syndroom

• SLC13A5-syndroom

• Smith-Kingsmore syndroom

• Smith-Lemli-Opitz syndroom (SLO-syndroom)

• Smith-Magenis syndroom

• Snijders Blok Campeau-syndroom

• Spondylo Epiphyseal Dysplasia Congenita (SEDC)

• SON-syndroom

• SOX2 syndroom

• SPATA5-syndroom

• SPTAN1-syndroom

• Sotos syndroom

• Stormorken yndroom

• Sturge-Weber syndroom

• STXBP1 encefalopathie

• Suleiman-el-hattab syndroom

• Supernumerary marker 15 syndroom

• SYNGAP1-syndroom

• TANC2-syndroom

• TAOK1-syndroom

• TAR-syndroom

• Tatton Brown Rahman syndroom

• TBC1D24-syndroom

• TBR1-syndroom

• TCF20 syndroom

• Temple syndroom

• Temple baraitser syndroom

• Temtamy syndroom

• THOC6-syndroom

• TRAF7-syndroom

• Treacher Collins syndroom

• TRIO syndroom

• Trisomie 13

• Trisomie 18

• Trisomie 21 (Down syndroom)

• Troyer syndroom

• TRPM3-syndroom

• TRRAP-syndroom

• Tubulinopathie

• Turner syndroom

• UGDH-syndroom

• Usher syndroom

• Usmani-Riazuddin syndroom

• VACTERL-syndroom

• VAMP2-syndroom

• Vasculair Ehler Danlos syndroom

• Velocardiaalfaciaal syndroom (22q11 deletie)

• Vici syndroom

• Waardenburg syndroom

• WDR37-yndroom

• Weaver syndroom

• Weiss-Kruszka syndroom

• White-Sutton syndroom

• Wiedemann Steiner syndroom

• Wildervanck syndroom

• Williams syndroom

• Wilson-Turner syndroom

• Wittveen Kolk syndroom

• Wolf-Hirschhorn syndroom

• Wolfram syndroom

• Xp11.23p11.22 microduplicatie-syndroom

• XXX-syndroom

• XXXXY-syndroom

• XYY-syndroom

• ZBTB18-syndroom

• ZFHX3-syndroom

• ZIC1-syndroom

• ZMIZ1-syndroom

• ZMYM2-syndroom

   

• ZMYND11-syndroom

• ZNF292-syndroom