Liste der wichtigsten Erkrankungen, in deren Behandlung wir Erfahrung haben und die mit einer Entwicklungsstörung assoziiert sind

1p21.3 Deletion, 1p36 Deletion, 1p36 Trisomie, 1q partielle Trisomie, 1q21.1 Duplikation, 1q21q22 Deletion, 1q43q44 Deletion, 2p16.3 Deletion, 2p25p24 partielle Trisomie, 2q11.2 Deletion, 2q36 Deletion, 2q37 Deletion, 3q27q28 Deletion, 3q29 Deletion, 5p Deletion, 6p24 Deletion, 6q15q22 Duplikation, 7q11.23 Deletion, 7q11.23 Duplikation, 7q36 Deletion, 8p23 Deletion, 8p23 Duplikation, 9p Deletion, 10p Duplikation, 10q11 Duplikation, 12p13.33p12.1 Duplikation, 14q32 Deletion, 15p11.2 Deletion, 15q11q13 Deletion, 15q11q13 Duplikation, 15q13 Deletion, 15q24q26 Duplikation, 15q25 Deletion, 16p11.2 distale Deletion, 16p11.2 proximale Deletion, 16p13.11 Deletion, 16p13.3 Duplikation, 16p13.3 Deletion, 16q23 Deletion, 17p11.2 Deletion, 17p11.2 Duplikation, 17p13.3 Deletion, 17q12 Duplikation,  17q21.31 Deletion, 17q25.1 Deletion, 18p Deletion, 18p Trisomie, 19q11q13 Deletion, 20p13 Deletion, 21q21.1 Deletion, 22q11.2 Deletion, 22q11.21 Duplikation, 22q13.3 Deletion, ABCC9, ACAN, ACTB, ACTG1, ADARB1, ADNP, ADSL, AFF4, AFG3L2, AGO2, AHDC1, AHI1, AHNAK, AKT3, ALDH7A1, ALMS1, ALS2, AMER1, AMPD1, ANKRD11, KBG-Syndrom, AP1G1, ARID1B, ARP6VOC, ARSA, ASPM, ASXL1, ASXL2, ASXL3, ATP1A3, ATP7B, ATP8A2, ATRX, AUTS2, BBS1, BBS4, BCL11B, BRAF, BRD4, BRSK1, BTD, CA2, CACNA1A, CACNA1D, CACNA1S,  CAMK2A, CAMK2B, CAMTA1, CAPN3, CBL, CCND2, CDH23, CDK13, CEP104, CEP290, CHD2, CHD3, CHD4, CHD7, CHD8, CLTC, CNKSR2, CNOT3, CNTN6, COL2A1, COL4A1, COL4A2, COL4A3, COL4A5, COX10, CPNE6, CREBBP, CSNK2A1, CTBP1, CTCF, CTDP1, CTNNB1, CoQ4, CUL3, CUL4B, CYP21A2, CYP24A1, D2HGDH, DDX11, DDX3X, DEAF1, DEE54, DHCR24, DHCR7, DHTKD1, DIP2B, DLL1, DMD, DNMT3A, DOCK8, DONSON, DPYSL5, DYNC1H1, DYRK1A, EBF3, EEF1A2, EDNRB, EHMT1, ELN, EP300, ERF, ERMARD, FARS2, FBN1, FBN2, FBXO11, FCSK, FGFR2, FGFR3, FITM2, FLNA, FLNB, FLT4, FMR1, FN1, FOXC1, FOXG1, FOXP1, FOXP2, FRRS1L, G6PD, GABBR2, GABRA1, GATAD2B, GFAP, GJB2, GJB6, GLS, GNA01, GNB5, GNE, GPC3, GPSM2, GRIA2, GRID1, GRIS2, GRIN1, GRIN2A, GRIN2B, GRIN2D, H3-3A, H3-3B,  HBB, HCFC1, HDAC8, HERC2, HNMT1, HNRNPU, HOMER2, HRAS, HUWE1, IDIC15, IDUA, IFID1, IKBKG, INTS1, IQSEC2, IRF2BPL, KAT6A, KCNA1, KCNA2, KCNB1, KCNJ6, KCNMA1, KCNQ2, KCNQ3, KCNT1, KDM5C, KDM6A, KDM6A, KDM6B, KIAA1279, KIF1A, KLHL15, KMT2A, KMT2B, KMT2D, KMT5B, L1CAM, LAMA1, LAMA2, LDLR, LGI1, LHX4, LMBR1, LRBA, LSS, LZTR1, MAF, MARK2, MBD5, MC4R, MCCC2, MECP2, MED12, MED13L, MEF2C, MEG3 Hypomethylierung, MEIS2, MITF, MORC2, MPDZ, MRPS2, MPPH, MSL3, MTSS2, MT-ND6, MTTS2, MYCBP2, MYH10, NAA15, NALCN, NDUFA4, NEB, NEMO, NEXMIF, NF1, NFIX, NIPBL, NOTCH2, NR2F1, NR2F2, NR4A2, NRXN1, NSD1, NSD2, OFD1, OPHN1, OTC, OTOF, PACS1, PAH, PCDH15, PGK1, PIBF1, PIDD1, PIGG, PIGT, PIGV, PLP1, PNPO, POLR2A, POLR3A, PPP2R1A, PPP2R5D, PRMT1, PROSC, PRSS12, PTCH1, PTEN, PTPN11, PUF60, PURA, PYGM, RAC1, RAF1, RAI1, RAPSN, RHOBTB2, RNU4-2, RPH3A, RYR1, RYR2, SAMD9, SAMHD1, SATB1, SATB2, SCN1A, SCN2A, SCN5A, SCN8A, SETD1B, SETD2, SETD5, SHANK3, SHROOM4, SIN3A, SKI, SLC16A2, SLC19A3, SLC26A4, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A7, SMAD4, SMARCA2, SMARCA4, SON, SOS1, SOX10, SOX11, SOX2, SOX4, SOX5, SPATA5, SPG7, SPTBN1, SRCAP, STXBP1, SUZ12, SYN1, SYNGAP1, TAOK1, TAZ, TBC1D24, TBL1XR1, TBR1, TCF20, TCF4, TCOF1, TECPR2, TGFB2, THOC2, TINF2, TLK2, TMLHE, TRIO, TRIP12, TSC1, TSC2, TTN, TUBA1A, TUBB2A, TUBB2B, UBE3A, UNC80, USH2, VPS13B, WASHC5 (o. KIAA0196), WDFY3, WDR45, XO, XOXY, Xp11.22p11.23 Duplikationssyndrom, Xp22 Deletion, XXYY-Syndrom, XYY-Syndrom, ZBTB18, ZEB2, ZMYM2, ZMYND11,  ZNF142, ZNF292, ZNF462.