{"id":24654,"date":"2024-06-11T12:37:54","date_gmt":"2024-06-11T12:37:54","guid":{"rendered":"https:\/\/www.babydetect.be\/paneel-v2\/"},"modified":"2024-10-30T20:55:39","modified_gmt":"2024-10-30T20:55:39","slug":"paneel-v2","status":"publish","type":"post","link":"https:\/\/www.babydetect.be\/nl\/paneel-v2\/","title":{"rendered":"Paneel V2"},"content":{"rendered":"<p>Het V2-paneel bestaande uit 409 genen of 165 ziekten is in gebruik sinds 25\/02\/2024<\/p>\n<table width=\"790\">\n<tbody>\n<tr>\n<td width=\"123\">Tak<\/td>\n<td width=\"480\">Wanorde<\/td>\n<td width=\"88\">Gen<\/td>\n<td width=\"99\">Erfenis<\/td>\n<\/tr>\n<tr>\n<td>Cardiologie<\/td>\n<td>Cardiomyopathie, gedilateerd 1 mm of cardiomyopathie hypertrofisch 4<\/td>\n<td>MYBPC3<\/td>\n<td>overheersend<\/td>\n<\/tr>\n<tr>\n<td>Cardiologie<\/td>\n<td>Cardiomyopathie, gedilateerde 1S of cardiomyopathie hypertrofisch 1<\/td>\n<td>MYH7<\/td>\n<td>overheersend<\/td>\n<\/tr>\n<tr>\n<td>Cardiologie<\/td>\n<td>Lang QT-syndroom 1 of Jervell en Lange-Nielsen-syndroom<\/td>\n<td>KCNQ1<\/td>\n<td width=\"99\">dominant\/ recessief<\/td>\n<\/tr>\n<tr>\n<td>Cardiologie<\/td>\n<td>Lang QT-syndroom 5<\/td>\n<td>KCNE1<\/td>\n<td width=\"99\">dominant\/ recessief<\/td>\n<\/tr>\n<tr>\n<td>Cardiologie<\/td>\n<td>Kort QT-syndroom 3 of Andersen Tawil-syndroom of LQT-syndroom 7<\/td>\n<td>KCNJ2 zei:<\/td>\n<td width=\"99\">dominant\/ recessief<\/td>\n<\/tr>\n<tr>\n<td>Cardiologie<\/td>\n<td>Timothy-syndroom of LQT8<\/td>\n<td>CACNA1C<\/td>\n<td>overheersend<\/td>\n<\/tr>\n<tr>\n<td>Cardiologie<\/td>\n<td>Ventriculaire tachycardie, catecholaminerge polymorf (CPVT) of LQT4<\/td>\n<td>ANK2 zei:<\/td>\n<td>overheersend<\/td>\n<\/tr>\n<tr>\n<td>Cardiologie<\/td>\n<td width=\"480\">Ventriculaire tachycardie, catecholaminerge polymorf (CPVT)\/ CALM-gemedieerde aritmie-syndroom<\/td>\n<td>KALM2<\/td>\n<td>overheersend<\/td>\n<\/tr>\n<tr>\n<td>Cardiologie<\/td>\n<td width=\"480\">Ventriculaire tachycardie, catecholaminerge polymorf (CPVT)\/ CALM-gemedieerde aritmie-syndroom<\/td>\n<td>KALM3<\/td>\n<td>overheersend<\/td>\n<\/tr>\n<tr>\n<td>Cardiologie<\/td>\n<td>Ventriculaire tachycardie, catecholaminerge polymorf, 1 (CPVT)<\/td>\n<td>RYR2<\/td>\n<td>overheersend<\/td>\n<\/tr>\n<tr>\n<td>Cardiologie<\/td>\n<td>Ventriculaire tachycardie, catecholaminerge polymorf, 2 (CPVT)<\/td>\n<td>CASQ2<\/td>\n<td>Recessief<\/td>\n<\/tr>\n<tr>\n<td>Cardiologie<\/td>\n<td>Ventriculaire tachycardie, catecholaminerge polymorf, 3<\/td>\n<td>TECRL<\/td>\n<td>overheersend<\/td>\n<\/tr>\n<tr>\n<td>Cardiologie<\/td>\n<td>Ventriculaire tachycardie, catecholaminerge polymorf, 4 (CPVT)<\/td>\n<td>KALM1<\/td>\n<td>overheersend<\/td>\n<\/tr>\n<tr>\n<td>Cardiologie<\/td>\n<td>Ventriculaire tachycardie, catecholaminerge polymorf, 5 (CPVT)<\/td>\n<td>TRDN<\/td>\n<td>Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Endocrinologie<\/td>\n<td width=\"480\">Congenitale bijnierhyperplasie<\/td>\n<td width=\"88\">CYP11A1<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Endocrinologie<\/td>\n<td width=\"480\">Congenitale bijnierhyperplasie<\/td>\n<td width=\"88\">CYP11B1<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Endocrinologie<\/td>\n<td width=\"480\">Congenitale bijnierhyperplasie<\/td>\n<td width=\"88\">CYP17A1<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Endocrinologie<\/td>\n<td width=\"480\">Congenitale bijnierhyperplasie<\/td>\n<td width=\"88\">CYP21A2<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Endocrinologie<\/td>\n<td width=\"480\">Congenitale bijnierhyperplasie<\/td>\n<td width=\"88\">HSD3B2 NL<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Endocrinologie<\/td>\n<td width=\"480\">Congenitale bijnierhyperplasie<\/td>\n<td width=\"88\">Ster<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Endocrinologie<\/td>\n<td width=\"480\">Congenitale bijnierhyperplasie \/ Antley Bixler-syndroom<\/td>\n<td width=\"88\">POR<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Endocrinologie<\/td>\n<td width=\"480\">Congenitale hypothyreo\u00efdie<\/td>\n<td width=\"88\">DUOX1<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Endocrinologie<\/td>\n<td width=\"480\">Congenitale hypothyreo\u00efdie<\/td>\n<td width=\"88\">DUOXA1<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Endocrinologie<\/td>\n<td width=\"480\">Congenitale hypothyreo\u00efdie<\/td>\n<td width=\"88\">FOSJE1<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Endocrinologie<\/td>\n<td width=\"480\">Congenitale hypothyreo\u00efdie<\/td>\n<td width=\"88\">GLIS3<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Endocrinologie<\/td>\n<td width=\"480\">Congenitale hypothyreo\u00efdie<\/td>\n<td width=\"88\">GNAS<\/td>\n<td width=\"99\">overheersend<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Endocrinologie<\/td>\n<td width=\"480\">Congenitale hypothyreo\u00efdie<\/td>\n<td width=\"88\">NKX2-1<\/td>\n<td width=\"99\">overheersend<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Endocrinologie<\/td>\n<td width=\"480\">Congenitale hypothyreo\u00efdie<\/td>\n<td width=\"88\">NKX2-5<\/td>\n<td width=\"99\">overheersend<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Endocrinologie<\/td>\n<td width=\"480\">Congenitale hypothyreo\u00efdie<\/td>\n<td width=\"88\">SECISBP2<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Endocrinologie<\/td>\n<td width=\"480\">Congenitale hypothyreo\u00efdie<\/td>\n<td width=\"88\">THRA<\/td>\n<td width=\"99\">overheersend<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Endocrinologie<\/td>\n<td width=\"480\">Congenitale hypothyreo\u00efdie<\/td>\n<td width=\"88\">THRB<\/td>\n<td width=\"99\">recessief\/ dominant<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Endocrinologie<\/td>\n<td width=\"480\">Congenitale hypothyreo\u00efdie<\/td>\n<td width=\"88\">UBR1<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Endocrinologie<\/td>\n<td width=\"480\">Congenitale hypothyreo\u00efdie (genitopatellaire sd)<\/td>\n<td width=\"88\">KAT6B<\/td>\n<td width=\"99\">overheersend<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Endocrinologie<\/td>\n<td width=\"480\">Congenitale hypothyreo\u00efdie (niet-struma 1)<\/td>\n<td width=\"88\">TSHR<\/td>\n<td width=\"99\">dominant\/ recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Endocrinologie<\/td>\n<td width=\"480\">Congenitale hypothyreo\u00efdie (hangend)<\/td>\n<td width=\"88\">FOXI1<\/td>\n<td width=\"99\">overheersend<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Endocrinologie<\/td>\n<td width=\"480\">Congenitale hypothyreo\u00efdie (hangend)<\/td>\n<td width=\"88\">KCNJ10 zei:<\/td>\n<td width=\"99\">overheersend<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Endocrinologie<\/td>\n<td width=\"480\">Congenitale hypothyreo\u00efdie (hangend)<\/td>\n<td width=\"88\">SLC26A4<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Endocrinologie<\/td>\n<td width=\"480\">Congenitale hypothyreo\u00efdie (dysgenesie van de schildklier)<\/td>\n<td width=\"88\">HHEX<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Endocrinologie<\/td>\n<td width=\"480\">Congenitale hypothyreo\u00efdie (dysgenesie van de schildklier)<\/td>\n<td width=\"88\">PAX8<\/td>\n<td width=\"99\">overheersend<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Endocrinologie<\/td>\n<td width=\"480\">Congenitale hypothyreo\u00efdie (dysgenesie van de schildklier)<\/td>\n<td width=\"88\">TUBB1<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Endocrinologie<\/td>\n<td width=\"480\">Congenitale hypothyreo\u00efdie (schildklierdyshormonogenese-1)<\/td>\n<td width=\"88\">SLC5A5<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Endocrinologie<\/td>\n<td width=\"480\">Congenitale hypothyreo\u00efdie (schildklierdyshormonogenese-2A)<\/td>\n<td width=\"88\">TPO<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Endocrinologie<\/td>\n<td width=\"480\">Congenitale hypothyreo\u00efdie (schildklierdyshormonogenese-3)<\/td>\n<td width=\"88\">GS<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Endocrinologie<\/td>\n<td width=\"480\">Congenitale hypothyreo\u00efdie (schildklierdyshormonogenese-4)<\/td>\n<td width=\"88\">IYD<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Endocrinologie<\/td>\n<td width=\"480\">Congenitale hypothyreo\u00efdie (schildklierdyshormonogenese-5)<\/td>\n<td width=\"88\">DUOXA2<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Endocrinologie<\/td>\n<td width=\"480\">Congenitale hypothyreo\u00efdie (schildklierdyshormonogenese-6)<\/td>\n<td width=\"88\">DUOX2<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Endocrinologie<\/td>\n<td width=\"480\">Taaislijmziekte<\/td>\n<td width=\"88\">CFTR<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Endocrinologie<\/td>\n<td width=\"480\">Tekort in de voorste hypofysefunctie en variabele immunodefici\u00ebntie (DAVID)<\/td>\n<td width=\"88\">NFKB2 NL<\/td>\n<td width=\"99\">overheersend<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Endocrinologie<\/td>\n<td width=\"480\">Hyperinsulinisme &#8211; hyperammoni\u00ebmie-syndroom (CHI)<\/td>\n<td width=\"88\">LIJM1<\/td>\n<td>overheersend<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Endocrinologie<\/td>\n<td width=\"480\">Hypofosfatasie, infantiel<\/td>\n<td width=\"88\">ALPL<\/td>\n<td width=\"99\">dominant\/ recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Endocrinologie<\/td>\n<td width=\"480\">Primair aldosteronisme, insulten en neurologische afwijkingen (CHI)<\/td>\n<td width=\"88\">CACNA1D<\/td>\n<td width=\"99\">dominant\/ recessief<\/td>\n<\/tr>\n<tr>\n<td>Gastro-enterologie<\/td>\n<td width=\"480\">Syndroom van Crigler-Najjar<\/td>\n<td width=\"88\">UGT1A1<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td>Gastro-enterologie<\/td>\n<td width=\"480\">Zure sfingomyelinase-defici\u00ebntie<\/td>\n<td width=\"88\">SMPD1<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td>Gastro-enterologie<\/td>\n<td width=\"480\">Alfa1-antitrypsine-defici\u00ebntie<\/td>\n<td width=\"88\">SERPINA1<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td>Gastro-enterologie<\/td>\n<td width=\"480\">Aangeboren diarree<\/td>\n<td width=\"88\">DGAT1<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td>Gastro-enterologie<\/td>\n<td width=\"480\">Aangeboren diarree<\/td>\n<td width=\"88\">NEUROG3<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td>Gastro-enterologie<\/td>\n<td width=\"480\">Aangeboren diarree<\/td>\n<td width=\"88\">SLC26A3<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td>Gastro-enterologie<\/td>\n<td width=\"480\">Congenitale natriumdiarree<\/td>\n<td width=\"88\">SLC9A3<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td>Gastro-enterologie<\/td>\n<td width=\"480\">Familiale chylomicronemie<\/td>\n<td width=\"88\">LPL<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td>Gastro-enterologie<\/td>\n<td width=\"480\">Familiale chylomicronemie<\/td>\n<td width=\"88\">APOA5<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td>Gastro-enterologie<\/td>\n<td width=\"480\">Familiale chylomicronemie<\/td>\n<td width=\"88\">APOC2<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td>Gastro-enterologie<\/td>\n<td width=\"480\">Familiale chylomicronemie<\/td>\n<td width=\"88\">GPIHBP1<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td>Gastro-enterologie<\/td>\n<td width=\"480\">Familiale chylomicronemie<\/td>\n<td width=\"88\">LMF1<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td>Gastro-enterologie<\/td>\n<td>Tekort aan lysosomaal zuurlipase<\/td>\n<td width=\"88\">LIPA<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td>Gastro-enterologie<\/td>\n<td>Agenesie van de alvleesklier 2<\/td>\n<td width=\"88\">PTF1A<\/td>\n<td>Recessief<\/td>\n<\/tr>\n<tr>\n<td>Gastro-enterologie<\/td>\n<td>Progressieve familiale intrahepatische cholestase (PFIC1)<\/td>\n<td width=\"88\">ATP8B1<\/td>\n<td width=\"99\">recessief\/ dominant<\/td>\n<\/tr>\n<tr>\n<td>Gastro-enterologie<\/td>\n<td>Progressieve familiale intrahepatische cholestase (PFIC2)<\/td>\n<td width=\"88\">ABCB11 zei:<\/td>\n<td>Recessief<\/td>\n<\/tr>\n<tr>\n<td>Gastro-enterologie<\/td>\n<td>Progressieve familiale intrahepatische cholestase (PFIC3)<\/td>\n<td width=\"88\">ABCB4<\/td>\n<td width=\"99\">recessief\/ dominant<\/td>\n<\/tr>\n<tr>\n<td>Gastro-enterologie<\/td>\n<td>Progressieve familiale intrahepatische cholestase (PFIC4)<\/td>\n<td width=\"88\">TJP2<\/td>\n<td>Recessief<\/td>\n<\/tr>\n<tr>\n<td>Gastro-enterologie<\/td>\n<td>Progressieve familiale intrahepatische cholestase (PFIC5)<\/td>\n<td width=\"88\"><a href=\"https:\/\/omim.org\/entry\/603826\">NR1H4<\/a><\/td>\n<td>Recessief<\/td>\n<\/tr>\n<tr>\n<td>Gastro-enterologie<\/td>\n<td>Progressieve familiale intrahepatische cholestase (PFIC6)<\/td>\n<td width=\"88\"><a href=\"https:\/\/omim.org\/entry\/603826\">MYO5B<\/a><\/td>\n<td>Recessief<\/td>\n<\/tr>\n<tr>\n<td>Gastro-enterologie<\/td>\n<td width=\"480\">Syndroom van Shwachman-Diamond 1<\/td>\n<td width=\"88\">SBDS<\/td>\n<td>Recessief<\/td>\n<\/tr>\n<tr>\n<td>Gastro-enterologie<\/td>\n<td width=\"480\">Syndroom van Shwachman-Diamond 2<\/td>\n<td width=\"88\">EFL1<\/td>\n<td>Recessief<\/td>\n<\/tr>\n<tr>\n<td>Gastro-enterologie<\/td>\n<td width=\"480\">Shwachman-Diamond-syndroom-achtig<\/td>\n<td width=\"88\">Adviesprijs 54<\/td>\n<td width=\"99\">overheersend<\/td>\n<\/tr>\n<tr>\n<td>Gastro-enterologie<\/td>\n<td width=\"480\">Shwachman-Diamond syndroom \/ Beenmergfalen syndroom 3<\/td>\n<td width=\"88\">DNAJC21<\/td>\n<td>Recessief<\/td>\n<\/tr>\n<tr>\n<td>Gastro-enterologie<\/td>\n<td width=\"480\">Zeer vroeg optredende inflammatoire darmaandoeningen (VEOIBD)<\/td>\n<td width=\"88\">IL10RA<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td>Gastro-enterologie<\/td>\n<td width=\"480\">Zeer vroeg optredende inflammatoire darmaandoeningen (VEOIBD)<\/td>\n<td width=\"88\">IL10RB<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td>Gastro-enterologie<\/td>\n<td>Ziekte van Wilson<\/td>\n<td width=\"88\">ATP7B<\/td>\n<td>Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Hematologie<\/td>\n<td width=\"480\">Bloedarmoede, X-gebonden, met\/zonder neutropenie en\/of bloedplaatjesafwijkingen<\/td>\n<td width=\"88\">GATA1<\/td>\n<td width=\"99\">X gekoppeld<\/td>\n<\/tr>\n<tr>\n<td>Hematologie<\/td>\n<td>Congenitale protrombinedefici\u00ebntie<\/td>\n<td width=\"88\">F2<\/td>\n<td>Recessief<\/td>\n<\/tr>\n<tr>\n<td>Hematologie<\/td>\n<td>Diamant-Blackfan-anemie<\/td>\n<td width=\"88\">RPL9<\/td>\n<td>overheersend<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Hematologie<\/td>\n<td>Diamond-Blackfan-bloedarmoede<\/td>\n<td width=\"88\">RPL31<\/td>\n<td width=\"99\">overheersend<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Hematologie<\/td>\n<td>Diamond-Blackfan-bloedarmoede<\/td>\n<td width=\"88\">TSR2<\/td>\n<td width=\"99\">X gekoppeld<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Hematologie<\/td>\n<td width=\"480\">Diamond-Blackfan-bloedarmoede 1<\/td>\n<td width=\"88\">RPS19<\/td>\n<td width=\"99\">overheersend<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Hematologie<\/td>\n<td>Diamond-Blackfan-bloedarmoede 10<\/td>\n<td width=\"88\">RPS26<\/td>\n<td width=\"99\">overheersend<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Hematologie<\/td>\n<td>Diamond-Blackfan-bloedarmoede 11<\/td>\n<td width=\"88\">RPL26<\/td>\n<td width=\"99\">overheersend<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Hematologie<\/td>\n<td>Diamond-Blackfan-bloedarmoede 12<\/td>\n<td width=\"88\">RPL15<\/td>\n<td width=\"99\">overheersend<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Hematologie<\/td>\n<td>Diamond-Blackfan-bloedarmoede 13<\/td>\n<td width=\"88\">RPS29<\/td>\n<td width=\"99\">overheersend<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Hematologie<\/td>\n<td>Diamond-Blackfan-bloedarmoede 15<\/td>\n<td width=\"88\">RPS28<\/td>\n<td width=\"99\">overheersend<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Hematologie<\/td>\n<td>Diamond-Blackfan bloedarmoede 16<\/td>\n<td width=\"88\">RPL27<\/td>\n<td width=\"99\">overheersend<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Hematologie<\/td>\n<td>Diamond-Blackfan-bloedarmoede 17<\/td>\n<td width=\"88\">RPS27<\/td>\n<td width=\"99\">overheersend<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Hematologie<\/td>\n<td>Diamond-Blackfan-bloedarmoede 18<\/td>\n<td width=\"88\">RPL18<\/td>\n<td width=\"99\">overheersend<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Hematologie<\/td>\n<td>Diamond-Blackfan-bloedarmoede 19<\/td>\n<td width=\"88\">RPL35<\/td>\n<td width=\"99\">overheersend<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Hematologie<\/td>\n<td>Diamond-Blackfan-bloedarmoede 20<\/td>\n<td width=\"88\">RPS15A<\/td>\n<td width=\"99\">overheersend<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Hematologie<\/td>\n<td>Diamond-Blackfan-bloedarmoede 3<\/td>\n<td width=\"88\">RPS24<\/td>\n<td width=\"99\">overheersend<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Hematologie<\/td>\n<td>Diamond-Blackfan-bloedarmoede 4<\/td>\n<td width=\"88\">RPS17<\/td>\n<td width=\"99\">overheersend<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Hematologie<\/td>\n<td>Diamond-Blackfan-bloedarmoede 5<\/td>\n<td width=\"88\">RPL35A<\/td>\n<td width=\"99\">overheersend<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Hematologie<\/td>\n<td>Diamond-Blackfan-bloedarmoede 6<\/td>\n<td width=\"88\">RPL5<\/td>\n<td width=\"99\">overheersend<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Hematologie<\/td>\n<td>Diamond-Blackfan-bloedarmoede 7<\/td>\n<td width=\"88\">RPL11<\/td>\n<td width=\"99\">overheersend<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Hematologie<\/td>\n<td>Diamond-Blackfan-bloedarmoede 8<\/td>\n<td width=\"88\">RPS7<\/td>\n<td width=\"99\">overheersend<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Hematologie<\/td>\n<td>Diamond-Blackfan-bloedarmoede 9<\/td>\n<td width=\"88\">RPS10<\/td>\n<td width=\"99\">overheersend<\/td>\n<\/tr>\n<tr>\n<td>Hematologie<\/td>\n<td>Dyskeratose congenita, X-gebonden<\/td>\n<td width=\"88\">DKC1<\/td>\n<td>X Gekoppeld<\/td>\n<\/tr>\n<tr>\n<td>Hematologie<\/td>\n<td>Factor XIII, A-subeenheid, defici\u00ebntie van<\/td>\n<td width=\"88\">F13A1<\/td>\n<td>Recessief<\/td>\n<\/tr>\n<tr>\n<td>Hematologie<\/td>\n<td>Factor XIII, B-subeenheid, defici\u00ebntie van<\/td>\n<td width=\"88\">F13B<\/td>\n<td>Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Hematologie<\/td>\n<td>Fanconi-anemie<\/td>\n<td width=\"88\">ERCC4<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Hematologie<\/td>\n<td>Fanconi-anemie<\/td>\n<td width=\"88\">FANCA<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Hematologie<\/td>\n<td>Fanconi-anemie<\/td>\n<td width=\"88\">FANCB (Vlaams-Braban<\/td>\n<td width=\"99\">X gekoppeld<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Hematologie<\/td>\n<td>Fanconi-anemie<\/td>\n<td width=\"88\">KANTON FANCC<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Hematologie<\/td>\n<td>Fanconi-anemie<\/td>\n<td width=\"88\">FANCD2<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Hematologie<\/td>\n<td>Fanconi-anemie<\/td>\n<td width=\"88\">FANCE<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Hematologie<\/td>\n<td>Fanconi-anemie<\/td>\n<td width=\"88\">FANCF<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Hematologie<\/td>\n<td>Fanconi-anemie<\/td>\n<td width=\"88\">FANCI<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Hematologie<\/td>\n<td>Fanconi-anemie<\/td>\n<td width=\"88\">FANCL<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Hematologie<\/td>\n<td>Fanconi-anemie<\/td>\n<td width=\"88\">FANG<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Hematologie<\/td>\n<td>Fanconi-anemie<\/td>\n<td width=\"88\">MAD2L2 zei:<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Hematologie<\/td>\n<td>Fanconi-anemie<\/td>\n<td width=\"88\">SLX4<\/td>\n<td>Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Hematologie<\/td>\n<td>Fanconi-anemie<\/td>\n<td width=\"88\">UBE2T<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Hematologie<\/td>\n<td width=\"480\">G6PD-defici\u00ebntie<\/td>\n<td width=\"88\">G6PD<\/td>\n<td width=\"99\">X gekoppeld<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Hematologie<\/td>\n<td width=\"480\">Hemoglobine stoornissen<\/td>\n<td width=\"88\">HBA1 NL<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Hematologie<\/td>\n<td width=\"480\">Hemoglobine stoornissen<\/td>\n<td width=\"88\">HBA2 NL<\/td>\n<td width=\"99\">\n<table>\n<tbody>\n<tr>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Hematologie<\/td>\n<td width=\"480\">Hemoglobine stoornissen<\/td>\n<td width=\"88\">HBB<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Hematologie<\/td>\n<td width=\"480\">Hemofilie A<\/td>\n<td width=\"88\">F8<\/td>\n<td width=\"99\">X gekoppeld<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Hematologie<\/td>\n<td width=\"480\">Hemofilie B<\/td>\n<td width=\"88\">F9<\/td>\n<td width=\"99\">X gekoppeld<\/td>\n<\/tr>\n<tr>\n<td>Hematologie<\/td>\n<td>Pyruvaatkinasedefici\u00ebntie van rode bloedcellen<\/td>\n<td width=\"88\">PKLR<\/td>\n<td>Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Hematologie<\/td>\n<td>Trombotische trombocytopenische purpura, erfelijk<\/td>\n<td width=\"88\">ADAMTS13<\/td>\n<td>Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Hematologie<\/td>\n<td>Syndroom van Wiscott-Aldrich<\/td>\n<td width=\"88\">WAS<\/td>\n<td>X gekoppeld<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Hematologie<\/td>\n<td>Syndroom van Wiscott-Aldrich 2<\/td>\n<td width=\"88\">WIPF1<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Immunologie<\/td>\n<td width=\"480\">Syndroom van Chediak-Higashi<\/td>\n<td width=\"88\">LYST<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Immunologie<\/td>\n<td width=\"480\">Chronische granulomateuze ziekte 1 (CGD)<\/td>\n<td width=\"88\">NCF1<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Immunologie<\/td>\n<td width=\"480\">Chronische granulomateuze ziekte 2 (CGD)<\/td>\n<td width=\"88\">NCF2<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Immunologie<\/td>\n<td width=\"480\">Chronische granulomateuze ziekte 3 (CGD)<\/td>\n<td width=\"88\">NCF4<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Immunologie<\/td>\n<td width=\"480\">Chronische granulomateuze ziekte 4 (CGD)<\/td>\n<td width=\"88\">CYBA<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Immunologie<\/td>\n<td width=\"480\">Chronische granulomateuze ziekte, X-gebonden (CGD)<\/td>\n<td width=\"88\">CYBB<\/td>\n<td width=\"99\">X gekoppeld<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Immunologie<\/td>\n<td width=\"480\">Syndroom van Griscelli 1<\/td>\n<td width=\"88\">MYO5A<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Immunologie<\/td>\n<td width=\"480\">Syndroom van Griscelli 2<\/td>\n<td width=\"88\">RAB27A<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Immunologie<\/td>\n<td width=\"480\">Heofagocytaire lymfohistiocytose, familiaal, 2<\/td>\n<td width=\"88\">PRF1<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Immunologie<\/td>\n<td width=\"480\">Heofagocytaire lymfohistiocytose, familiaal, 3<\/td>\n<td width=\"88\">UNC13D<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Immunologie<\/td>\n<td width=\"480\">Heofagocytaire lymfohistiocytose, familiaal, 4<\/td>\n<td width=\"88\">STX11<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Immunologie<\/td>\n<td width=\"480\">Heofagocytaire lymfohistiocytose, familiaal, 5<\/td>\n<td width=\"88\">STXBP2 NL<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Immunologie<\/td>\n<td width=\"480\">SCID<\/td>\n<td width=\"88\">ADA<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Immunologie<\/td>\n<td width=\"480\">SCID<\/td>\n<td width=\"88\">AK2<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Immunologie<\/td>\n<td width=\"480\">SCID<\/td>\n<td width=\"88\"><a href=\"https:\/\/www.genenames.org\/tools\/search\/#!\/genes?query=CD247\">CD247 NL<\/a><\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Immunologie<\/td>\n<td width=\"480\">SCID<\/td>\n<td width=\"88\">CD3D<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Immunologie<\/td>\n<td width=\"480\">SCID<\/td>\n<td width=\"88\">CD3E<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Immunologie<\/td>\n<td width=\"480\">SCID<\/td>\n<td width=\"88\">CD3G<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Immunologie<\/td>\n<td width=\"480\">SCID<\/td>\n<td width=\"88\">CIITA<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Immunologie<\/td>\n<td width=\"480\">SCID<\/td>\n<td width=\"88\">CORO1A<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Immunologie<\/td>\n<td width=\"480\">SCID<\/td>\n<td width=\"88\">DCLRE1C<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Immunologie<\/td>\n<td width=\"480\">SCID<\/td>\n<td width=\"88\">FOXN1<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Immunologie<\/td>\n<td width=\"480\">SCID<\/td>\n<td width=\"88\">IL2RG<\/td>\n<td width=\"99\">X gekoppeld<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Immunologie<\/td>\n<td width=\"480\">SCID<\/td>\n<td width=\"88\">IL7R<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Immunologie<\/td>\n<td width=\"480\">SCID<\/td>\n<td width=\"88\">JAK3<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Immunologie<\/td>\n<td width=\"480\">SCID<\/td>\n<td width=\"88\">LCK<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Immunologie<\/td>\n<td width=\"480\">SCID<\/td>\n<td width=\"88\">LIG4<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Immunologie<\/td>\n<td width=\"480\">SCID<\/td>\n<td width=\"88\">PRKDC<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Immunologie<\/td>\n<td width=\"480\">SCID<\/td>\n<td width=\"88\">PTPRC<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Immunologie<\/td>\n<td width=\"480\">SCID<\/td>\n<td width=\"88\">RAc2<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Immunologie<\/td>\n<td width=\"480\">SCID<\/td>\n<td width=\"88\">RAG1<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Immunologie<\/td>\n<td width=\"480\">SCID<\/td>\n<td width=\"88\">RAG2<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Immunologie<\/td>\n<td width=\"480\">SCID<\/td>\n<td width=\"88\">RFX5<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Immunologie<\/td>\n<td width=\"480\">SCID<\/td>\n<td width=\"88\">RFXANK<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Immunologie<\/td>\n<td width=\"480\">SCID<\/td>\n<td width=\"88\">RFXAP<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Immunologie<\/td>\n<td width=\"480\">SCID<\/td>\n<td width=\"88\">ZAP70 NL<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Immunologie<\/td>\n<td width=\"480\">SCID &#8211; IMD40<\/td>\n<td width=\"88\">DOK 2<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Immunologie<\/td>\n<td width=\"480\">SCID &#8211; IMD52<\/td>\n<td width=\"88\">LAT<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Immunologie<\/td>\n<td width=\"480\">Ernstige congenitale neutropenie 1<\/td>\n<td width=\"88\">ELANE<\/td>\n<td width=\"99\">overheersend<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Immunologie<\/td>\n<td width=\"480\">Ernstige congenitale neutropenie 2<\/td>\n<td width=\"88\">GFI1<\/td>\n<td width=\"99\">overheersend<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Immunologie<\/td>\n<td width=\"480\">Ernstige congenitale neutropenie 3<\/td>\n<td width=\"88\">HAX1 NL<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Immunologie<\/td>\n<td width=\"480\">Ernstige congenitale neutropenie 4 (Dursun-syndroom)<\/td>\n<td width=\"88\">G6PC3<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Immunologie<\/td>\n<td width=\"480\">Ernstige congenitale neutropenie 5<\/td>\n<td width=\"88\">VPS45<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Immunologie<\/td>\n<td width=\"480\">Ernstige congenitale neutropenie 6<\/td>\n<td width=\"88\">JAGN1 zei:<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Immunologie<\/td>\n<td width=\"480\">Ernstige congenitale neutropenie 7<\/td>\n<td width=\"88\">CSF3R<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Immunologie<\/td>\n<td width=\"480\">Ernstige congenitale neutropenie 8<\/td>\n<td width=\"88\">Adviesprijs 54<\/td>\n<td width=\"99\">overheersend<\/td>\n<\/tr>\n<tr>\n<td>Immunologie<\/td>\n<td width=\"480\">Whim-syndroom<\/td>\n<td width=\"88\">CXCR4 zei:<\/td>\n<td>overheersend<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">2-Methylbutyrylglycinurie (SBCAD)<\/td>\n<td width=\"88\">ACADSB<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">2,4 Dienoyl-CoA-reductase-defici\u00ebntie<\/td>\n<td width=\"88\">NADK2<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">3-HMG-CoA-synthase-2-defici\u00ebntie<\/td>\n<td width=\"88\">HMGCS2 NL<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">3-Hydroxy-3-Methyglutaaracidurie (HMGCoAliase)<\/td>\n<td width=\"88\">HMGCL<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">3-methylcrotonyl-CoA-carboxylasedefici\u00ebntie (3MCC)<\/td>\n<td width=\"88\">MCCC1 zei:<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">3-methylcrotonyl-CoA-carboxylasedefici\u00ebntie (3MCC)<\/td>\n<td width=\"88\">MCCC2 zei:<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">ACAD9-defici\u00ebntie<\/td>\n<td width=\"88\">ACAD9 zei:<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">Argininemie<\/td>\n<td width=\"88\">ARG1<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">Argininosuccinic Acidurie<\/td>\n<td width=\"88\">ASL<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">Biotinidase-defici\u00ebntie<\/td>\n<td width=\"88\">BTD<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">Vertakte keten ketozuurdehydrogenasekinasedefici\u00ebntie<\/td>\n<td width=\"88\">BCKDK<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">Syndroom van Brown-Vialetto-Van Laere 1<\/td>\n<td width=\"88\">SLC52A3<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">Syndroom van Brown-Vialetto-Van Laere 2<\/td>\n<td width=\"88\">SLC52A2<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">Carnitine Acylcarnitine Translocase-defici\u00ebntie<\/td>\n<td width=\"88\">SLC25A20<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">Carnitine Palmitoyltransferase Type IDeficiency (CPT1)<\/td>\n<td width=\"88\">CPT1A<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">Carnitine palmitoyltransferase type II-defici\u00ebntie (CPT2)<\/td>\n<td width=\"88\">CPT2<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">Carnitine Opname Defect\/CarnitineTransport Defect<\/td>\n<td width=\"88\">SLC22A5<\/td>\n<td width=\"99\">\n<table>\n<tbody>\n<tr>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">Cerebraal creatinedefici\u00ebntie-syndroom<\/td>\n<td width=\"88\">GAMT<\/td>\n<td width=\"99\">\n<table>\n<tbody>\n<tr>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">Cerebraal creatinedefici\u00ebntie-syndroom<\/td>\n<td width=\"88\">GATM<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">Cerebraal creatinedefici\u00ebntie-syndroom<\/td>\n<td width=\"88\">SLC6A8<\/td>\n<td width=\"99\">X gekoppeld<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">Citrullinemie, type I<\/td>\n<td width=\"88\">ASS1<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">Citrullinemie, type II<\/td>\n<td width=\"88\">SLC25A13<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">Gecombineerde malonische en methylmalonacidurie (CMAMMA)<\/td>\n<td width=\"88\">ACSF3<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">CPS1-defici\u00ebntie<\/td>\n<td width=\"88\">CPS1<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td>Metabo<\/td>\n<td width=\"480\">Dihydrolipoamide-dehydrogenase-defici\u00ebntie<\/td>\n<td width=\"88\">TOS<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">Fructose-1,6-bifosfatase-defici\u00ebntie<\/td>\n<td width=\"88\">FBP1 NL<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">Fructose-intolerantie, erfelijk<\/td>\n<td width=\"88\">ALDOB<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">Galactosemie<\/td>\n<td width=\"88\">STORM<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">Galactosemie<\/td>\n<td width=\"88\">GALK1<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">Galactosemie<\/td>\n<td width=\"88\">GALT<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">Galactosemie IV<\/td>\n<td width=\"88\">KANTON GALM<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">Ziekte van Gaucher type 1<\/td>\n<td width=\"88\">GBA<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">Malabsorptie van glucose\/galactose<\/td>\n<td width=\"88\">SLC5A1<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">Glutaaracidurie type I<\/td>\n<td width=\"88\">GCDH (Hongarije)<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">Glycine encefalopathie<\/td>\n<td width=\"88\">AMT<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">Glycine encefalopathie<\/td>\n<td width=\"88\">GLDC<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">Glycogeenstapelingsziekte type 0A<\/td>\n<td width=\"88\">GYS2<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">Glycogeenstapelingsziekte type 0B<\/td>\n<td width=\"88\">GYS1<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">Glycogeenstapelingsziekte type IA<\/td>\n<td width=\"88\">G6PC<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">Glycogeenstapelingsziekte type IB\/IC<\/td>\n<td width=\"88\">SLC37A4<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">Glycogeenstapelingsziekte type III<\/td>\n<td width=\"88\">AGL<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">Glycogeenstapelingsziekte type IXA<\/td>\n<td width=\"88\">PHKA2<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">Glycogeenstapelingsziekte type IXB<\/td>\n<td width=\"88\">PHKB<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">Glycogeenstapelingsziekte type IXC<\/td>\n<td width=\"88\">PHKG2<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">Glycogeenstapelingsziekte type VI<\/td>\n<td width=\"88\">PYGL<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">Glycogeenstapelingsziekte type XI (Fanconi-Bickel)<\/td>\n<td width=\"88\">SLC2A2<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">Holocarboxylasesynthase-defici\u00ebntie<\/td>\n<td width=\"88\">HLCS<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">Homocystinurie<\/td>\n<td width=\"88\">CBS<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">Homocystinurie<\/td>\n<td width=\"88\">MTHFR<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">Homocystinurie<\/td>\n<td width=\"88\">MTR<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">Homocystinurie (CblE)<\/td>\n<td width=\"88\">MTRR<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">Ziekte van de jager (MPS II)<\/td>\n<td width=\"88\">IDS<\/td>\n<td width=\"99\">X gekoppeld<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">Ziekte van Hurler (MPS I)<\/td>\n<td width=\"88\">IDUA<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">Hypermethioninemie<\/td>\n<td width=\"88\">ADK<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">Hypermethioninemie<\/td>\n<td width=\"88\">AHCY<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">Hypermethioninemie<\/td>\n<td width=\"88\">MAT1A<\/td>\n<td width=\"99\">recessief\/ dominant<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">Hyperornithinemie &#8211; hyperammoni\u00ebmie &#8211; homocitrullinurie-syndroom (HHH)<\/td>\n<td width=\"88\">SLC25A15<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">Isobutyrylglycinurie<\/td>\n<td width=\"88\">ACAD8<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">Isovalerische acidemie<\/td>\n<td width=\"88\">IVD (Medische Verklaring)<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">L-3 hydroxyacyl-CoADehydrogenase-defici\u00ebntie met lange keten (LCHAD)<\/td>\n<td width=\"88\">HADHA<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">L-3 hydroxyacyl-CoADehydrogenase-defici\u00ebntie met lange keten (trifunctionele eiwitdefici\u00ebntie)<\/td>\n<td width=\"88\">HADHB<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">Malonische acidurie<\/td>\n<td width=\"88\">MLYCD<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">Syndroom van Maroteaux-Lamy (MPS VI)<\/td>\n<td width=\"88\">ARSB<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">Middellange keten Acyl-CoA-dehydrogenasedefici\u00ebntie (MCAD)<\/td>\n<td width=\"88\">ACADM<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">Middellange\/korte-keten L-3-hydroxyacylCoADehydrogenase-defici\u00ebntie<\/td>\n<td width=\"88\">HADH<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">Methylmalonzuuracidemie<\/td>\n<td width=\"88\">ABCD4<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">Methylmalonzuuracidemie<\/td>\n<td width=\"88\">HCFK1<\/td>\n<td width=\"99\">X gekoppeld<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">Methylmalonzuuracidemie<\/td>\n<td width=\"88\">LMBRD1<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">Methylmalonzuuracidemie<\/td>\n<td width=\"88\">MCEE<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">Methylmalonzuuracidemie<\/td>\n<td width=\"88\">MMACHC (Hongarije)<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">Methylmalonzuuracidemie<\/td>\n<td width=\"88\">MMADHC<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">Methylmalonzuuracidemie<\/td>\n<td width=\"88\">MMUT<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">Methylmalonzuuracidemie<\/td>\n<td width=\"88\">TCN2<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">Methylmalonzuuracidemie (CblA)<\/td>\n<td width=\"88\">MMAA (MMAA)<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">Methylmalonzuuracidemie (CblB)<\/td>\n<td width=\"88\">MMAB<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">Ziekte van Morquio (MPS IVA)<\/td>\n<td width=\"88\">GALNS<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">MSUD<\/td>\n<td width=\"88\">BCKDHA<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">MSUD<\/td>\n<td width=\"88\">BCKDHB<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">MSUD<\/td>\n<td width=\"88\">DBT<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">Multipele acyl-coa-dehydrogenasedefici\u00ebntie (MADD)<\/td>\n<td width=\"88\">ETFA (Engelstalig)<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">Multipele acyl-coa-dehydrogenasedefici\u00ebntie (MADD)<\/td>\n<td width=\"88\">ETFB<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">Multipele acyl-coa-dehydrogenasedefici\u00ebntie (MADD)<\/td>\n<td width=\"88\">ETFDH<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">Multipele acyl-coa-dehydrogenasedefici\u00ebntie (MADD)<\/td>\n<td width=\"88\">FLAD1 zei:<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">NAGS-tekort<\/td>\n<td width=\"88\">NAGS<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">OTC-defici\u00ebntie<\/td>\n<td width=\"88\">OTC<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">Fenylketonurie (BH4)<\/td>\n<td width=\"88\">GCH1 NL<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">Fenylketonurie (BH4)<\/td>\n<td width=\"88\">Printplaat 1<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">Fenylketonurie (BH4)<\/td>\n<td width=\"88\">PTS<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">Fenylketonurie (BH4)<\/td>\n<td width=\"88\">QDPR<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">Fenylketonurie (Hyper-Phe, mild)<\/td>\n<td width=\"88\">DNAJC12<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">Fenylketonurie (PKU)<\/td>\n<td width=\"88\">PAK<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">Ziekte van Pompe<\/td>\n<td width=\"88\">GAA<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">Propionzuuracidemie<\/td>\n<td width=\"88\">PCCA<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">Propionzuuracidemie<\/td>\n<td width=\"88\">PCCB<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">Pyridoxine-afhankelijke epilepsie<\/td>\n<td width=\"88\">ALDH7A1<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">Pyridoxine-afhankelijke epilepsie<\/td>\n<td width=\"88\">PNPO<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">Riboflavine-defici\u00ebntie<\/td>\n<td width=\"88\">SLC52A1<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">Riboflavinedefici\u00ebntie, inspanningsintolerantie<\/td>\n<td width=\"88\">SLC25A32<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">SCOT-defici\u00ebntie<\/td>\n<td width=\"88\">OXCT1<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">Defect aan de biosynthese van serine<\/td>\n<td width=\"88\">PHGDH<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">Defect aan de biosynthese van serine<\/td>\n<td width=\"88\">PSAT1<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">Defect aan de biosynthese van serine<\/td>\n<td width=\"88\">PSPH (Neppe)<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">Serine transporter defect<\/td>\n<td width=\"88\">SLC1A4<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">Acyl-CoA-dehydrogenasedefici\u00ebntie met korte keten<\/td>\n<td width=\"88\">ACADS<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">Sluw (MPSVII)<\/td>\n<td width=\"88\">GUSB<\/td>\n<td width=\"99\">\n<table>\n<tbody>\n<tr>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">\u00df-Ketothiolase-defici\u00ebntie<\/td>\n<td width=\"88\">ACAT1<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">Sucrase-isomaltase-defici\u00ebntie<\/td>\n<td width=\"88\">SI<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">Tyrosinemie 1<\/td>\n<td width=\"88\">FAH<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">Tyrosinemie 2<\/td>\n<td width=\"88\">HPD<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">Tyrosinemie 3<\/td>\n<td width=\"88\">TAT<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Metabo<\/td>\n<td width=\"480\">VLCAD<\/td>\n<td width=\"88\">ACADVL<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td>Nefrologie<\/td>\n<td>Alport-syndroom type 1, X-gekoppeld<\/td>\n<td>COL4A5<\/td>\n<td>X gekoppeld<\/td>\n<\/tr>\n<tr>\n<td>Nefrologie<\/td>\n<td>Syndroom van Alport type 2<\/td>\n<td>COL4A4<\/td>\n<td>Recessief<\/td>\n<\/tr>\n<tr>\n<td>Nefrologie<\/td>\n<td>Syndroom van Alport type 2 en 3<\/td>\n<td>COL4A3 NL<\/td>\n<td width=\"99\">recessief\/ dominant<\/td>\n<\/tr>\n<tr>\n<td>Nefrologie<\/td>\n<td>Congenitaal nefrotisch syndroom, Fins<\/td>\n<td>NPHS1<\/td>\n<td>Recessief<\/td>\n<\/tr>\n<tr>\n<td>Nefrologie<\/td>\n<td>Cystinose, nefropathisch<\/td>\n<td>CTNS<\/td>\n<td>Recessief<\/td>\n<\/tr>\n<tr>\n<td>Nefrologie<\/td>\n<td>Erfelijke nefrogene diabetes insipidus (NDI)<\/td>\n<td>AQP2<\/td>\n<td width=\"99\">recessief\/ dominant<\/td>\n<\/tr>\n<tr>\n<td>Nefrologie<\/td>\n<td>Erfelijke nefrogene diabetes insipidus (NDI)<\/td>\n<td>AVPR2<\/td>\n<td>X gekoppeld<\/td>\n<\/tr>\n<tr>\n<td>Nefrologie<\/td>\n<td>Hypofosfatemische rachitis, X-gebonden<\/td>\n<td>PHEX<\/td>\n<td>X gekoppeld<\/td>\n<\/tr>\n<tr>\n<td>Nefrologie<\/td>\n<td>Primaire Oxalurie type 1<\/td>\n<td>AGXT<\/td>\n<td>Recessief<\/td>\n<\/tr>\n<tr>\n<td>Nefrologie<\/td>\n<td>Primaire Oxalurie type 2<\/td>\n<td>GRHPR<\/td>\n<td>Recessief<\/td>\n<\/tr>\n<tr>\n<td>Nefrologie<\/td>\n<td>Primaire Oxalurie type 3<\/td>\n<td>HOGA1<\/td>\n<td>Recessief<\/td>\n<\/tr>\n<tr>\n<td>Nefrologie<\/td>\n<td>Pseudohypoaldosteronisme, type I (PHA1a)<\/td>\n<td>NR3C2<\/td>\n<td>overheersend<\/td>\n<\/tr>\n<tr>\n<td>Nefrologie<\/td>\n<td>Pseudohypoaldosteronisme, type I (PHA1b)<\/td>\n<td>SCNN1A<\/td>\n<td>Recessief<\/td>\n<\/tr>\n<tr>\n<td>Nefrologie<\/td>\n<td>Pseudohypoaldosteronisme, type I (PHA1b)<\/td>\n<td>SCNN1B<\/td>\n<td>Recessief<\/td>\n<\/tr>\n<tr>\n<td>Nefrologie<\/td>\n<td>Pseudohypoaldosteronisme, type I (PHA1b)<\/td>\n<td>SCNN1G<\/td>\n<td>Recessief<\/td>\n<\/tr>\n<tr>\n<td>Nefrologie<\/td>\n<td>Pseudohypoaldosteronisme, type IIB (PHA2B)<\/td>\n<td>WNK4<\/td>\n<td>overheersend<\/td>\n<\/tr>\n<tr>\n<td>Nefrologie<\/td>\n<td>Pseudohypoaldosteronisme, type IIC (PHA2C)<\/td>\n<td>WNK1<\/td>\n<td>overheersend<\/td>\n<\/tr>\n<tr>\n<td>Nefrologie<\/td>\n<td>Pseudohypoaldosteronisme, type IID (PHA2D)<\/td>\n<td>KLHL3<\/td>\n<td width=\"99\">recessief\/ dominant<\/td>\n<\/tr>\n<tr>\n<td>Nefrologie<\/td>\n<td>Pseudohypoaldosteronisme, type IIE (PHA2E)<\/td>\n<td>CUL3<\/td>\n<td>overheersend<\/td>\n<\/tr>\n<tr>\n<td>Neurologie<\/td>\n<td width=\"480\">Aromatische L-aminozuurdecarboxylasedefici\u00ebntie<\/td>\n<td width=\"88\">DDC<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td>Neurologie<\/td>\n<td width=\"480\">Ataxie met vitamine E-tekort<\/td>\n<td width=\"88\">TTPA<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td>Neurologie<\/td>\n<td width=\"480\">Hersenen dopamine-serotonine vesiculaire transportziekte<\/td>\n<td width=\"88\">SLC18A2<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td>Neurologie<\/td>\n<td width=\"480\">Decrebrale defici\u00ebntie van foliumzuurtransport<\/td>\n<td width=\"88\">FOLR1<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td>Neurologie<\/td>\n<td width=\"480\">Ceroide Lipofuscinose type 2 (CLN2)<\/td>\n<td width=\"88\">TPP1<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td>Neurologie<\/td>\n<td width=\"480\">De Vivo ziekte<\/td>\n<td width=\"88\">SLC2A1<\/td>\n<td width=\"99\">dominante\/ zeldzame AR<\/td>\n<\/tr>\n<tr>\n<td>Neurologie<\/td>\n<td width=\"480\">Ontwikkelings- en epileptische encefalopathie 82\/ GOT2-defici\u00ebntie<\/td>\n<td width=\"88\">GOT2<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td>Neurologie<\/td>\n<td width=\"480\">Dopamine b\u00e8ta-hydroxylase-defici\u00ebntie<\/td>\n<td width=\"88\">DBH<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td>Neurologie<\/td>\n<td width=\"480\">Dystonie dopa responsief<\/td>\n<td width=\"88\">SPR<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td>Neurologie<\/td>\n<td width=\"480\">epilepsie, vroeg optredend, vitamine B6-afhankelijk; Epvb6d<\/td>\n<td width=\"88\">PLPBP<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td>Neurologie<\/td>\n<td width=\"480\">Erfelijke hyperekplexie 1<\/td>\n<td width=\"88\">GLRA1<\/td>\n<td width=\"99\">recessief en dominant<\/td>\n<\/tr>\n<tr>\n<td>Neurologie<\/td>\n<td width=\"480\">Erfelijke hyperekplexie 2<\/td>\n<td width=\"88\">GLRB<\/td>\n<td width=\"99\">recessief en dominant<\/td>\n<\/tr>\n<tr>\n<td>Neurologie<\/td>\n<td width=\"480\">Erfelijke hyperekplexie 3<\/td>\n<td width=\"88\">SLC6A5<\/td>\n<td width=\"99\">recessief en zeldzaam dominant<\/td>\n<\/tr>\n<tr>\n<td>Neurologie<\/td>\n<td width=\"480\">Ziekte van Menkes<\/td>\n<td width=\"88\">ATP7A<\/td>\n<td width=\"99\">X gekoppeld<\/td>\n<\/tr>\n<tr>\n<td>Neurologie<\/td>\n<td>Metachromatische leukodystrofie<\/td>\n<td width=\"88\">ARSA<\/td>\n<td>Recessief<\/td>\n<\/tr>\n<tr>\n<td>Neurologie<\/td>\n<td width=\"480\">Myasthenisch syndroom, aangeboren<\/td>\n<td width=\"88\">GMPPB<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td>Neurologie<\/td>\n<td width=\"480\">Myasthenisch syndroom, aangeboren<\/td>\n<td width=\"88\">LAMA5 zei:<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td>Neurologie<\/td>\n<td width=\"480\">Myasthenisch syndroom, aangeboren<\/td>\n<td width=\"88\">MACF1<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td>Neurologie<\/td>\n<td width=\"480\">Myasthenisch syndroom, aangeboren<\/td>\n<td width=\"88\">RPH3A<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td>Neurologie<\/td>\n<td width=\"480\">Myasthenisch syndroom, aangeboren, 10<\/td>\n<td width=\"88\">DOK7<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td>Neurologie<\/td>\n<td width=\"480\">Myasthenisch syndroom, aangeboren, 11<\/td>\n<td width=\"88\">GFPT1 NL<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td>Neurologie<\/td>\n<td width=\"480\">Myasthenisch syndroom, aangeboren, 11<\/td>\n<td width=\"88\">RAPSN<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td>Neurologie<\/td>\n<td width=\"480\">Myasthenisch syndroom, aangeboren, 13, met tubulaire aggregaten<\/td>\n<td width=\"88\">DPAGT1<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td>Neurologie<\/td>\n<td width=\"480\">Myasthenisch syndroom, aangeboren, 14<\/td>\n<td width=\"88\">ALG2<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td>Neurologie<\/td>\n<td width=\"480\">Myasthenisch syndroom, aangeboren, 15<\/td>\n<td width=\"88\">ALG14<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td>Neurologie<\/td>\n<td width=\"480\">Myasthenisch syndroom, aangeboren, 17<\/td>\n<td width=\"88\">LRP4 NL<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td>Neurologie<\/td>\n<td width=\"480\">Myasthenisch syndroom, aangeboren, 18<\/td>\n<td width=\"88\">KLIK 25<\/td>\n<td width=\"99\">overheersend<\/td>\n<\/tr>\n<tr>\n<td>Neurologie<\/td>\n<td width=\"480\">Myasthenisch syndroom, aangeboren, 19<\/td>\n<td width=\"88\">COL13A1<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td>Neurologie<\/td>\n<td width=\"480\">Myasthenisch syndroom, aangeboren, 1A langzaam kanaal of 1B snel kanaal<\/td>\n<td width=\"88\">CHRNA1<\/td>\n<td width=\"99\">recessief\/ dominant<\/td>\n<\/tr>\n<tr>\n<td>Neurologie<\/td>\n<td width=\"480\">Myasthenisch syndroom, aangeboren, 20, presynaptisch<\/td>\n<td width=\"88\">SLC5A7<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td>Neurologie<\/td>\n<td width=\"480\">Myasthenisch syndroom, aangeboren, 21, presynaptisch<\/td>\n<td width=\"88\">SLC18A3<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td>Neurologie<\/td>\n<td width=\"480\">Myasthenisch syndroom, aangeboren, 22<\/td>\n<td width=\"88\">VOORBEREIDING<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td>Neurologie<\/td>\n<td width=\"480\">Myasthenisch syndroom, aangeboren, 23, presynaptisch<\/td>\n<td width=\"88\">SLC25A1<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td>Neurologie<\/td>\n<td width=\"480\">Myasthenisch syndroom, aangeboren, 24, presynaptisch<\/td>\n<td width=\"88\">MYO9A<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td>Neurologie<\/td>\n<td width=\"480\">Myasthenisch syndroom, aangeboren, 25<\/td>\n<td width=\"88\">VAMP1<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td>Neurologie<\/td>\n<td width=\"480\">Myasthenisch syndroom, aangeboren, 2A, slow-channel<\/td>\n<td width=\"88\">CHRNB1 NL<\/td>\n<td width=\"99\">recessief\/ dominant<\/td>\n<\/tr>\n<tr>\n<td>Neurologie<\/td>\n<td width=\"480\">Myasthenisch syndroom, aangeboren, 3B, snel kanaal<\/td>\n<td width=\"88\">CHRND<\/td>\n<td width=\"99\">recessief\/ dominant<\/td>\n<\/tr>\n<tr>\n<td>Neurologie<\/td>\n<td width=\"480\">Myasthenisch syndroom, aangeboren, 4c,<\/td>\n<td width=\"88\">ACHRE<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td>Neurologie<\/td>\n<td width=\"480\">Myasthenisch syndroom, aangeboren, 5<\/td>\n<td width=\"88\">COLQ<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td>Neurologie<\/td>\n<td width=\"480\">Myasthenisch syndroom, aangeboren, 6, presynaptisch<\/td>\n<td width=\"88\">BABBELEN<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td>Neurologie<\/td>\n<td width=\"480\">Myasthenisch syndroom, aangeboren, 7, presynaptisch<\/td>\n<td width=\"88\">SYT2 NL<\/td>\n<td width=\"99\">overheersend<\/td>\n<\/tr>\n<tr>\n<td>Neurologie<\/td>\n<td width=\"480\">Myasthenisch syndroom, aangeboren, 8, postsynaptisch<\/td>\n<td width=\"88\">AGRN<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td>Neurologie<\/td>\n<td width=\"480\">Myasthenisch syndroom, aangeboren, 9, geassocieerd met acetylcholinereceptordefici\u00ebntie<\/td>\n<td width=\"88\">MUSKUS<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td>Neurologie<\/td>\n<td width=\"480\">Myasthenisch syndroom, aangeboren, met epidermolysis bullosa<\/td>\n<td width=\"88\">PLEC<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td>Neurologie<\/td>\n<td width=\"480\">Myasthenisch syndroom, MUNC13-1<\/td>\n<td width=\"88\">UNC13-1<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td>Neurologie<\/td>\n<td width=\"480\">Neuropathie, erfelijke motorische en sensorische, type VIC, met optische atrofie<\/td>\n<td width=\"88\">PDXK<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td>Neurologie<\/td>\n<td width=\"480\">Syndroom van Segawa<\/td>\n<td width=\"88\">\u00de<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td>Neurologie<\/td>\n<td width=\"480\">Syndroom van Smith-Lemli-Opitz<\/td>\n<td width=\"88\">DHCR7 zei:<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td>Neurologie<\/td>\n<td width=\"480\">Spinale musculaire atrofie<\/td>\n<td width=\"88\">SMN1<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td>Neurologie<\/td>\n<td width=\"480\">Spinale musculaire atrofie<\/td>\n<td width=\"88\">SMN2<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td>Neurologie<\/td>\n<td width=\"480\">Thiaminemetabolisme disfunctie syndroom 2 (biotine- of thiamine-responsieve encefalopathie type 2)<\/td>\n<td width=\"88\">SLC19A3<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td>Neurologie<\/td>\n<td width=\"480\">Thiaminemetabolisme disfunctiesyndroom 4 (progressieve polyneuropathie type)<\/td>\n<td width=\"88\">SLC25A19<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td>Neurologie<\/td>\n<td width=\"480\">Thiaminemetabolisme disfunctiesyndroom 5 (episodische encefalopathie type)<\/td>\n<td width=\"88\">TPK1<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td>Neurologie<\/td>\n<td width=\"480\">Thiamine-responsief megaloblastisch anemie-syndroom<\/td>\n<td width=\"88\">SLC19A2<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td>Neurologie<\/td>\n<td width=\"480\">X-Adrenoleukodystrofie<\/td>\n<td width=\"88\">ABCD1<\/td>\n<td width=\"99\">X gekoppeld<\/td>\n<\/tr>\n<tr>\n<td width=\"123\">Onco \/ OPH<\/td>\n<td width=\"480\">Retinoblastoom<\/td>\n<td width=\"88\">RB1<\/td>\n<td width=\"99\">overheersend<\/td>\n<\/tr>\n<tr>\n<td>OPH<\/td>\n<td width=\"480\">Familiale exsudatieve vitreoretinopathie (FEVR)<\/td>\n<td width=\"88\">FZD4 NL<\/td>\n<td width=\"99\">overheersend<\/td>\n<\/tr>\n<tr>\n<td>OPH<\/td>\n<td width=\"480\">Familiale exsudatieve vitreoretinopathie (FEVR)<\/td>\n<td width=\"88\">KIF11 zei:<\/td>\n<td width=\"99\">overheersend<\/td>\n<\/tr>\n<tr>\n<td>OPH<\/td>\n<td width=\"480\">Familiale exsudatieve vitreoretinopathie (FEVR)<\/td>\n<td width=\"88\">LRP5<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td>OPH<\/td>\n<td width=\"480\">Familiale exsudatieve vitreoretinopathie (FEVR)<\/td>\n<td width=\"88\">RCBTB1<\/td>\n<td width=\"99\">overheersend<\/td>\n<\/tr>\n<tr>\n<td>OPH<\/td>\n<td width=\"480\">Familiale exsudatieve vitreoretinopathie (FEVR)<\/td>\n<td width=\"88\">TSPAN12<\/td>\n<td width=\"99\">overheersend<\/td>\n<\/tr>\n<tr>\n<td>OPH<\/td>\n<td width=\"480\">Familiale exsudatieve vitreoretinopathie (FEVR)<\/td>\n<td width=\"88\">ZNF408 zei:<\/td>\n<td width=\"99\">overheersend<\/td>\n<\/tr>\n<tr>\n<td>OPH<\/td>\n<td width=\"480\">Primair aangeboren glaucoom<\/td>\n<td width=\"88\">CYP1B1<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td>OPH<\/td>\n<td>Primair aangeboren glaucoom<\/td>\n<td width=\"88\">LTBP2<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td>OPH<\/td>\n<td width=\"480\">Ernstige retinale dystrofie in de vroege kinderjaren (SECORD)<\/td>\n<td width=\"88\">RPE65 zei:<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td>&nbsp;<\/td>\n<td width=\"480\">ACTH-defici\u00ebntie, ge\u00efsoleerd<\/td>\n<td width=\"88\">TBX19<\/td>\n<td>Recessief<\/td>\n<\/tr>\n<tr>\n<td>&nbsp;<\/td>\n<td width=\"480\">Agammaglobulinemie 7, autosomaal recessief<\/td>\n<td width=\"88\">PIK3R1 NL<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td>&nbsp;<\/td>\n<td>Agammaglobulinemie, X-gebonden<\/td>\n<td width=\"88\">BTK<\/td>\n<td>X Gekoppeld<\/td>\n<\/tr>\n<tr>\n<td>&nbsp;<\/td>\n<td>Auto-immuun lymfoproliferatief syndroom<\/td>\n<td width=\"88\">FAS<\/td>\n<td>overheersend<\/td>\n<\/tr>\n<tr>\n<td>&nbsp;<\/td>\n<td width=\"480\">Syndroom van Bachman-Bupp (BABS)<\/td>\n<td width=\"88\">ODC1<\/td>\n<td width=\"99\">overheersend<\/td>\n<\/tr>\n<tr>\n<td>&nbsp;<\/td>\n<td>Beenmergfalen syndroom 4<\/td>\n<td width=\"88\">MYSM1<\/td>\n<td>Recessief<\/td>\n<\/tr>\n<tr>\n<td>&nbsp;<\/td>\n<td width=\"480\">Koolzuuranhydrase Va-defici\u00ebntie, hyperammoni\u00ebmie als gevolg van (CA5AD)<\/td>\n<td width=\"88\">CA5A<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td>&nbsp;<\/td>\n<td width=\"480\">Aangeboren aandoening van glycosylering, type IIn<\/td>\n<td width=\"88\">SLC39A8<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td>&nbsp;<\/td>\n<td width=\"480\">Corticosteronmethyloxidase type I-defici\u00ebntie<\/td>\n<td width=\"88\">CYP11B2<\/td>\n<td>Recessief<\/td>\n<\/tr>\n<tr>\n<td>&nbsp;<\/td>\n<td>Fanconi-anemie, complementatiegroep D1<\/td>\n<td width=\"88\">BRCA2<\/td>\n<td>Recessief<\/td>\n<\/tr>\n<tr>\n<td>&nbsp;<\/td>\n<td>Fanconi-anemie, complementatiegroep J<\/td>\n<td width=\"88\">BRIP1<\/td>\n<td>Recessief<\/td>\n<\/tr>\n<tr>\n<td>&nbsp;<\/td>\n<td>Fanconi-anemie, complementatie groep W<\/td>\n<td width=\"88\">RFWD3<\/td>\n<td>Recessief<\/td>\n<\/tr>\n<tr>\n<td>&nbsp;<\/td>\n<td width=\"480\">Glucocortico\u00efddefici\u00ebntie 2 (GCCD2)<\/td>\n<td width=\"88\">MRAP<\/td>\n<td>Recessief<\/td>\n<\/tr>\n<tr>\n<td>&nbsp;<\/td>\n<td width=\"480\">Glucocortico\u00efddefici\u00ebntie 4 met of zonder mineralocortico\u00efddefici\u00ebntie<\/td>\n<td width=\"88\">NNT<\/td>\n<td>Recessief<\/td>\n<\/tr>\n<tr>\n<td>&nbsp;<\/td>\n<td width=\"480\">GRIN2B-gerelateerde neurologische ontwikkelingsstoornis (GRIN2B-NDD)<\/td>\n<td width=\"88\">GRIN2B<\/td>\n<td width=\"99\">overheersend<\/td>\n<\/tr>\n<tr>\n<td>&nbsp;<\/td>\n<td width=\"480\">Erfelijke hyperekplexie 4<\/td>\n<td width=\"88\">ATAD1<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td>&nbsp;<\/td>\n<td width=\"480\">Hyper-IgE recidiverend infectiesyndroom 2, autosomaal recessief<\/td>\n<td width=\"88\">DOK 8<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td>&nbsp;<\/td>\n<td width=\"480\">Syndroom van Imerslund-Grasbeck 1<\/td>\n<td width=\"88\">CUBN<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td>&nbsp;<\/td>\n<td width=\"480\">Syndroom van Imerslund-Grasbeck 2<\/td>\n<td width=\"88\">AMN<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td>&nbsp;<\/td>\n<td width=\"480\">Immunodefici\u00ebntie 23<\/td>\n<td width=\"88\">PGM3<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td>&nbsp;<\/td>\n<td width=\"480\">Immunodefici\u00ebntie 24<\/td>\n<td width=\"88\">CTPS1<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td>&nbsp;<\/td>\n<td width=\"480\">immunodefici\u00ebntie 63 met lymfoproliferatie en auto-immuniteit; IMD63 zei:<\/td>\n<td width=\"88\">IL2RB<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td>&nbsp;<\/td>\n<td width=\"480\">Immunodefici\u00ebntie 67<\/td>\n<td width=\"88\">IRAK4 zei:<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td>&nbsp;<\/td>\n<td width=\"480\">Immunodefici\u00ebntie 71 met ontstekingsziekte en congenitale trombocytopenie<\/td>\n<td width=\"88\">ARPC1B<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td>&nbsp;<\/td>\n<td width=\"480\">Immunodysregulatie, polyendocrinopathie en enteropathie, X-gebonden (IPEX)<\/td>\n<td width=\"88\">FOXP3<\/td>\n<td width=\"99\">X-gekoppeld<\/td>\n<\/tr>\n<tr>\n<td>&nbsp;<\/td>\n<td width=\"480\">Intrinsieke factordefici\u00ebntie (IFD)<\/td>\n<td width=\"88\">CBLIF<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td>&nbsp;<\/td>\n<td width=\"480\">Johanson-Blizzard-syndroom (pancreatitis achylia &#8211; een van de vele symptomen)<\/td>\n<td width=\"88\">UBR1<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td>&nbsp;<\/td>\n<td width=\"480\">Defici\u00ebntie van leukocytenadhesie, type I (LAD)<\/td>\n<td width=\"88\">ITGB2<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td>&nbsp;<\/td>\n<td>Lymfoproliferatief syndroom, X-gebonden, 1<\/td>\n<td width=\"88\">SH2D1A<\/td>\n<td>X Gekoppeld<\/td>\n<\/tr>\n<tr>\n<td>&nbsp;<\/td>\n<td>Lymfoproliferatief syndroom, X-gebonden, 2<\/td>\n<td width=\"88\">XIAP<\/td>\n<td>X Gekoppeld<\/td>\n<\/tr>\n<tr>\n<td>&nbsp;<\/td>\n<td width=\"480\">Lysynurische eiwitintolerantie<\/td>\n<td width=\"88\">SLC7A7 zei:<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td>&nbsp;<\/td>\n<td width=\"480\">Mevalonische acidurie<\/td>\n<td width=\"88\">MVK<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td>&nbsp;<\/td>\n<td width=\"480\">Molybdeen-cofactordefici\u00ebntie, complementatiegroep A<\/td>\n<td width=\"88\">MOCS1<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td>&nbsp;<\/td>\n<td width=\"480\">Mucopolysaccharidose IIIa (MPS IIIb)<\/td>\n<td width=\"88\">NAGLU<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td>&nbsp;<\/td>\n<td width=\"480\">Mucopolysaccharidose IIIa (MPS IIIc)<\/td>\n<td width=\"88\">HGSNAT<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td>&nbsp;<\/td>\n<td width=\"480\">Mucopolysaccharidose IIIa (MPSIIIa)<\/td>\n<td width=\"88\">SGSH<\/td>\n<td width=\"99\">Recessief<\/td>\n<\/tr>\n<tr>\n<td>&nbsp;<\/td>\n<td>Nijmeegs breuksyndroom<\/td>\n<td width=\"88\">NBN<\/td>\n<td>Recessief<\/td>\n<\/tr>\n<tr>\n<td>&nbsp;<\/td>\n<td width=\"480\">Ziekte van Norrie<\/td>\n<td width=\"88\">NDP<\/td>\n<td>X gekoppeld<\/td>\n<\/tr>\n<tr>\n<td>&nbsp;<\/td>\n<td>Osteopetrose, autosomaal recessief 4<\/td>\n<td width=\"88\">CLCN7 zei:<\/td>\n<td>Recessief<\/td>\n<\/tr>\n<tr>\n<td>&nbsp;<\/td>\n<td>Osteopetrose, autosomaal recessief 7<\/td>\n<td width=\"88\">TNFRSF11A<\/td>\n<td>Recessief<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<p>&nbsp;<\/p>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Het V2-paneel bestaande uit 409 genen of 165 ziekten is in gebruik sinds 25\/02\/2024 Tak Wanorde Gen Erfenis Cardiologie Cardiomyopathie, gedilateerd 1 mm of cardiomyopathie hypertrofisch 4 MYBPC3 overheersend Cardiologie Cardiomyopathie, gedilateerde 1S of cardiomyopathie hypertrofisch 1 MYH7 overheersend Cardiologie Lang QT-syndroom 1 of Jervell en Lange-Nielsen-syndroom KCNQ1 dominant\/ recessief Cardiologie Lang QT-syndroom 5 KCNE1&#8230;<\/p>\n","protected":false},"author":4,"featured_media":23922,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[92],"tags":[],"_links":{"self":[{"href":"https:\/\/www.babydetect.be\/nl\/wp-json\/wp\/v2\/posts\/24654"}],"collection":[{"href":"https:\/\/www.babydetect.be\/nl\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.babydetect.be\/nl\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.babydetect.be\/nl\/wp-json\/wp\/v2\/users\/4"}],"replies":[{"embeddable":true,"href":"https:\/\/www.babydetect.be\/nl\/wp-json\/wp\/v2\/comments?post=24654"}],"version-history":[{"count":1,"href":"https:\/\/www.babydetect.be\/nl\/wp-json\/wp\/v2\/posts\/24654\/revisions"}],"predecessor-version":[{"id":24655,"href":"https:\/\/www.babydetect.be\/nl\/wp-json\/wp\/v2\/posts\/24654\/revisions\/24655"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.babydetect.be\/nl\/wp-json\/wp\/v2\/media\/23922"}],"wp:attachment":[{"href":"https:\/\/www.babydetect.be\/nl\/wp-json\/wp\/v2\/media?parent=24654"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.babydetect.be\/nl\/wp-json\/wp\/v2\/categories?post=24654"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.babydetect.be\/nl\/wp-json\/wp\/v2\/tags?post=24654"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}