17q23.1q23.2 Microdeletion Syndrome

RMRP, ROR2, RUNX2, SALL1, BMP1, BMP2, BMPR1B, SF3B4, SH3BP2, FBXW4, SHH, SHOX, SKI, SLCO2A1, SLC26A2, SMARCAL1, SMC1A, SOX9, SQSTM1, TBX15, TBX3, TBX4, TBX5, TBX6, TBXAS1, TCF12, TCIRG1, TCOF1, TGFB1, TGFBR1, TGFBR2, TNFRSF11A, TNFRSF11B, TNFSF11, TNXB, TRIP11, TRPS1, ACP5, TWIST1, TYROBP, VDR, CCN6, WNT1, WNT3, WNT5A, WNT7A, ZMPSTE24, ADAMTS10, LMBR1, HDAC8, NSDHL, IFT122, CA2, SOST, HDAC4, NSD1, RAB23, ADAMTSL2, ALX1, SNX10, SERPINH1, ANKH, XYLT1, SALL4, HES7, TP63, PCNT, RAB33B, IFITM5, SRCAP, ACVR1, ADAMTS17, ORC6, CHSY1, SP7, CDC6, CDH3, AFF4, B3GALT6, TRPV4, FKBP10, ASXL1, WDR19, PROK2, FKBP14, RIN2, DOCK6, P3H1, SBDS, CHST3, CANT1, EVC2, GREM1, POLR1C, CLCN7, SLC34A3, SMOC1, TGDS, SULF1, POLR1D, SLC35D1, SLC39A13, CUL7, ANKRD11, DYM, OSTM1, LHX4, ADAMTS2, COL10A1, COL11A1, WDR60, COL11A2, COL1A2, COL3A1, COL5A1, COL5A2, FAM20C, COL9A1, COL9A2, COL9A3, COMP, COL27A1, TRAPPC2, FERMT3, ZNF469, FREM1, CREBBP, CRTAP, BMPER, CHST14, TCTN3, CDT1, SMC3, FAM111A, CTSK, DDX59, CCDC8, TMEM38B, TTC21B, GORAB, IMPAD1, PIGV, CYP27B1, PIEZO2, CEP120, AMER1, ESCO2, DDR2, ANO5, CCNQ, EOGT, DHCR24, DHODH, NIPBL, LEMD3, IFT140, DLL3, OBSL1, ARHGAP31, WDR35, IFT80, DMP1, DYNC2H1, MESP2, TXNL4A, EFTUD2, EBP, ACAN, EFNB1, MEGF8, EIF2AK3, AGPS, ENPP1, EP300, ERF, EVC, EXT1, BHLHA9, EXT2, FBLN1, FBN1, FBN2, FGD1, FGF10, FGF23, FGFR1, FGFR2, FGFR3, FLNA, FLNB, FMN1, GALNT3, GDF3, GDF5, GDF6, GHSR, GLI3, ALPL, GPC3, GPC6, ALX3, ALX4, RIPK4, HOXA11, HOXA13, HOXD13, HPGD, HSPG2, RBPJ, IHH, INPPL1, IRF6, KIF22, LBR, COG1, LFNG, LIFR, LMX1B, LRP4, LRP5, MATN3, MEOX1, MGP, MMP13, MMP2, MMP9, ARSE, MSX2, MYCN, NEK1, NFIX, NOG, NPPC, NPR2, ORC1, ORC4, PAPSS2, PCYT1A, PDE4D, SERPINF1, PEX7, PHEX, PITX1, PLOD1, PLOD2, PLS3, PPIB, B4GALT7, PRKAR1A, NKX3-2, PTDSS1, PTHLH, PTH1R, RAD21, RASGRP2, RECQL4

BMPR1B, BMPR2, TBX4, CAV1, CAV3, NME8, ACVRL1, SARS2, CCNO, DNAI2, CFTR, EIF2AK4, DNAAF2, RSPH9, DNAAF4, RSPH4A, COL4A1, COL4A2, DNAH11, DNAH5, DNAI1, DNAAF3, DNAAF1, DVL1, ELN, ENG, KCNK3, SMAD9, NOTCH1, NOTCH2, NOTCH3

RMRP, ROR2, BGN, RUNX2, BMP1, BMP2, BMPR1B, SF3B4, SH3BP2, SHOX, SKI, SLCO2A1, SLC26A2, SMARCAL1, SMC1A, SOX9, TBX15, TBX3, TBX4, TBX6, TCF12, TCIRG1, TCOF1, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2, TNFRSF11A, TNFRSF11B, TNFSF11, TRIP11, TRPS1, ACP5, TWIST1, TYROBP, VDR, CCN6, WNT1, WNT5A, ADAMTS10, HDAC8, NSDHL, IFT122, CA2, SOST, NSD1, ADAMTSL2, SNX10, CASR, SERPINH1, ANKH, XYLT1, SETBP1, TP63, PCNT, RAB33B, STAMBP, ACVR1, ADAMTS17, ORC6, CHSY1, SP7, CDC45, CDC6, KAT6B, CDKN1C, B3GALT6, TRPV4, FKBP10, WDR19, ATP6V0A2, DOCK6, NANS, P3H1, SBDS, CHST3, CANT1, EVC2, POLR1C, CLCN5, CLCN7, SLC34A3, VIPAS39, POLR1D, SLC35D1, SLC39A13, CUL7, ANKRD11, DYM, OSTM1, COL10A1, COL11A1, WDR60, COL11A2, COL1A2, FAM20C, COL9A1, COL9A2, COL9A3, COMP, FAM20A, TRAPPC2, SLC29A3, CREBBP, CRTAP, BMPER, CHST14, TCTN3, CDT1, SMC3, FAM111A, FAM83H, CTSK, TMEM38B, TTC21B, IMPAD1, CYP27B1, CSPP1, AMER1, CKAP2L, ESCO2, DDR2, ANO5, WDR34, EOGT, DHCR24, NIPBL, LEMD3, IFT140, DLL3, OBSL1, DLL4, DLX3, ARHGAP31, SH3PXD2B, WDR35, IFT80, DMP1, DYNC2H1, MESP2, IFT43, IFT172, KIF7, DVL1, EFTUD2, EBP, ACAN, EFNB1, EIF2AK3, AGPS, ENAM, ENPP1, EP300, RNU4ATAC, EVC, EXT1, BHLHA9, EXT2, EXTL3, EZH2, FANCB, FANCC, FBN1, FBN2, FGF23, FGFR1, FGFR2, FGFR3, FLNA, FLNB, AKT1, GALNT3, GDF5, GJA1, GLI3, ALPL, GNAS, GNPAT, GPC6, ALX3, ALX4, HOXA13, HOXD13, HSPG2, IDS, RBPJ, IHH, INPPL1, KIF22, MAFB, LBR, LIFR, LMNA, LMX1B, LRP4, LRP5, LTBP2, LTBP3, SMAD3, SMAD4, MATN3, MGP, ARSB, MMP13, MMP2, MMP9, ARSE, MSX2, MYCN, NEK1, NF1, NFIX, NOG, NOTCH2, NPR2, ORC1, ORC4, PAPSS2, PCYT1A, AIFM1, PDE4D, SERPINF1, PEX7, PGM3, PHEX, PIK3CA, PLOD2, PLS3, POR, B3GAT3, PPIB, B4GALT7, PRKAR1A, LONP1, NKX3-2, PTDSS1, PTHLH, PTH1R, PTPN11, PYCR1, RAD21, RECQL4

RIT1, RMRP, BCS1L, ROR2, BGN, RRAS, RUNX2, BMP1, BMP2, SEC24D, BMPR1B, SF3B4, SH3BP2, SHOX, SKI, SLCO2A1, BRAF, SLC26A2, SMARCAL1, SMC1A, SOS1, SOX2, SOX3, SOX9, SPARC, STAT5B, TBX15, TBX19, TBX3, TBX4, TBX6, TCF12, TCIRG1, TCOF1, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2, TNFRSF11A, TNFRSF11B, TNFSF11, TRIP11, TRPS1, ACP5, TWIST1, TYROBP, VDR, CCN6, WNT1, WNT5A, XRCC4, ACTB, ADAMTS10, HDAC8, NSDHL, IFT122, CA2, SOST, NSD1, ACTG1, ADAMTSL2, SNX10, CASR, CBL, SHOC2, MBTPS2, SERPINH1, ANKH, XYLT1, SETBP1, TP63, PCNT, RAB33B, IFITM5, STAMBP, SRCAP, ACVR1, ADAMTS17, ORC6, CHSY1, CENPJ, SP7, CDC45, CDC6, KAT6B, CDKN1C, B3GALT6, TRPV4, FKBP10, WDR19, ATP6V0A2, RTTN, CREB3L1, DOCK6, NANS, P3H1, SBDS, CHST3, CANT1, EVC2, POLR1C, CLCN5, CLCN7, SLC34A3, VIPAS39, POLR1D, SLC35D1, SLC39A13, CUL7, ANKRD11, DYM, OSTM1, LHX4, COL10A1, COL11A1, WDR60, COL11A2, COL1A2, COL3A1, COL5A1, COL5A2, FAM20C, COL9A1, COL9A2, COL9A3, COMP, FAM20A, TRAPPC2, SLC29A3, CREBBP, CRTAP, BMPER, CHST14, POC1A, TCTN3, CDT1, SMC3, FAM111A, FAM83H, LARP7, CTSK, CCDC8, TMEM38B, TTC21B, CEP63, IMPAD1, CYP27B1, CSPP1, AMER1, CKAP2L, ESCO2, DDR2, ANO5, WDR34, CCNQ, EOGT, DHCR24, DHCR7, NIPBL, LEMD3, IFT140, DLL3, OBSL1, DLL4, DLX3, ARHGAP31, SH3PXD2B, WDR35, IFT80, CEP152, DMP1, DYNC2H1, MESP2, IFT43, IFT172, KIF7, DVL1, EFTUD2, EBP, ACAN, EFNB1, EIF2AK3, AGPS, ENAM, ENPP1, EP300, RNU4ATAC, EVC, EXT1, BHLHA9, EXT2, EXTL3, EZH2, FANCB, FANCC, FBN1, FBN2, FGD1, FGF23, FGFR1, FGFR2, FGFR3, FLNA, FLNB, AKT1, GALNT3, GDF5, GH1, GHR, GHRHR, GJA1, GLI2, GLI3, ALPL, GNAS, GNPAT, GPC6, ALX3, ALX4, HESX1, HOXA13, HOXD13, HRAS, HSPG2, IDS, IGF1, IGF1R, IGFALS, RBPJ, IHH, INPPL1, INSR, KIF22, KRAS, MAFB, LBR, LHX3, LIFR, LMNA, LMX1B, LRP4, LRP5, LTBP2, LTBP3, LZTR1, SMAD3, SMAD4, MAP2K1, MAP2K2, MATN3, MGP, ARSB, MMP13, MMP2, MMP9, ARSE, MSX2, TRIM37, MYCN, NEK1, NF1, NFIX, NOG, NOTCH2, NPR2, NRAS, ORC1, ORC4, OTX2, PAPSS2, PCYT1A, AIFM1, PDE4D, ATR, SERPINF1, PEX14, PEX7, PGM3, PHEX, PIK3CA, PITX2, PLOD2, PLS3, POR, POU1F1, B3GAT3, PPIB, B4GALT7, PRKAR1A, PROP1, LONP1, NKX3-2, PTDSS1, PTHLH, PTH1R, PTPN11, PEX19, PYCR1, RAD21, RAF1, RASA2, RBBP8, RECQL4