Syndromic deafness, AD, XL
Gén: ACTG1, AIFM1, ANKH, ATP6V1B2, BCAP31, COL11A1, COL11A2, COL2A1, COL4A3, COL4A5, DIAPH3, DNMT1, DSPP, EDN3, EDNRB, EYA1, GATA3, GRHL2, HOXA2, CHD7, MITF, MYH14, MYH9, MYO6, NDP, NLRP3, PAX3, PEX6, POLD1, POLR1D, PRPS1, RPS6KA3, SALL1, SALL4, SEMA3E, SIX1, SIX5, SNAI2, SOX10, TCOF1, TFAP2A, TIMM8A, TSHZ1, TWNK, TYR, WFS1, YAP1
Syndromic deafness, AR, XL
Gén: ABHD12, ADGRV1, AIFM1, ALMS1, ATP6V1B1, BCAP31, BCS1L, BSND, BTD, CACNA1D, CATSPER2, CD151, CDH23, CEP250, CIB2, CISD2, CLPP, CLRN1, COL11A1, COL11A2, COL4A3, COL4A4, COL4A5, COL9A1, COL9A2, DCAF17, DLX5, EDN3, EDNRB, ESPN, FGF3, FOXI1, GFER, GPSM2, GRHL2, HARS, HARS2, HOXA2, HOXB1, HSD17B4, CHSY1, IGF1, KCNE1, KCNJ10, KCNQ1, LARS2, LRP2, MAN2B1, MANBA, MGP, MITF, MYO7A, NARS2, NDP, PAX3, PCDH15, PDZD7, PEX1, PEX26, PEX6, PNPT1, POLR1C, POLR1D, PRPS1, RMND1, RPS6KA3, SLC19A2, SLC26A4, SLC29A3, SLC33A1, SLC52A2, SLC52A3, SLITRK6, SNAI2, TBC1D24, TIMM8A, TNFRSF11B, TWNK, TYR, USH1C, USH1G, USH2A, WFS1, WHRN, XYLT2
Spondylocostal dysostosis
Gén: DLL3, HES7, LFNG, MESP2, TBX6
Syndromes with short stature
Gén: ACAN, ACTB, ACTG1, ALMS1, ATR, ATRX, B3GAT3, BCS1L, BLM, BRAF, BTK, CBL, CCDC8, CDC45, CDC6, CDT1, CENPJ, CEP63, CEP152, COL1A1, COL1A2, COL27A1, CREBBP, CUL7, DHCR7, EP300, ERCC6, ERCC8, FGD1, FGFR1, FGFR3, FN1, GH1, GHR, GHRHR, GHSR, GLI2, GNAS, HDAC8, HESX1, HMGA2, HRAS, IDUA, IFT172, IGF1, IGF1R, IGF2, IGFALS, IHH, INS, INSR, IRS1, KDM6A, KMT2D, KRAS, LARP7, LFNG, LHX3, LHX4, LZTR1, MAP2K1, MAP2K2, NBN, NIPBL, NOTCH2, PROP1, PTPN11, PUF60, RAD21, RAF1, RASA2, RBBP8, RIT1, RNU4ATAC, ROR2, RPS6KA3, RRAS, RTTN, SHOC2, SHOX, SMARCA2, SMARCAL1, SMARCE1, SMC1A, SMC3, SOS1, SOX2, SOX3, SOX11, SRCAP, STAT3, STAT5B, TALDO1, TBCE, TBX2, TBX3, TBX19, THRB, TOP3A, TRIM37, TRMT10A, WRN (RECQL2), XRCC4
Syndromic deafness
Gén: ABHD12, ACTG1, ADGRV1, AIFM1, ALMS1, ANKH, ATP6V1B1, ATP6V1B2, BCAP31, BCS1L, BSND, BTD, CACNA1D, CATSPER2, CD151, CDH23, CEP250, CIB2, CISD2, CLPP, CLRN1, COL11A1, COL11A2, COL2A1, COL4A3, COL4A4, COL4A5, COL9A1, COL9A2, DCAF17, DIAPH3, DLX5, DNMT1, DSPP, EDN3, EDNRB, ESPN, EYA1, FGF3, FOXI1, GATA3, GFER, GPSM2, GRHL2, HARS, HARS2, HOXA2, HOXB1, HSD17B4, CHD7, CHSY1, IGF1, KCNE1, KCNJ10, KCNQ1, LARS2, LRP2, MAN2B1, MANBA, MGP, MITF, MYH14, MYH9, MYO6, MYO7A, NARS2, NDP, NLRP3, PAX3, PCDH15, PDZD7, PEX1, PEX26, PEX6, PNPT1, POLD1, POLR1C, POLR1D, PRPS1, RMND1, RPS6KA3, SALL1, SALL4, SEMA3E, SIX1, SIX5, SLC19A2, SLC26A4, SLC29A3, SLC33A1, SLC52A2, SLC52A3, SLITRK6, SNAI2, SOX10, TBC1D24, TCOF1, TFAP2A, TIMM8A, TNFRSF11B, TSHZ1, TWNK, TYR, USH1C, USH1G, USH2A, WFS1, WHRN, XYLT2, YAP1
Rett and Rett-like syndrome
Gén: CDKL5, FOXG1, GABBR2, IQSEC2, MECP2, MEF2C, NGLY1, NTNG1
Seckel syndrome
Gén: ATR, CDK5RAP2, CENPJ, CEP152, CEP63, DNA2, LIG4, NIN, PCNT, RBBP8, TRAIP
Skeletal dysplasia
Gén: ACAN, ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AFF4, AGA, AGPS, AIFM1, AKT1, ALPL, ALX4, AMER1, ANKH, ANKRD11, ANO5, ARHGAP31, ARSB, ARSE, ASCC1, ASPM, ATP6V0A2, ATR, B3GALT6, B3GAT3, B4GALT7, BGN, BMP1, BMP2, BMPER, BMPR1B, C2CD3, CA2, CALR, CANT1, CASR, CCDC8, CDC6, CDT1, CENPJ, CEP120, CEP135, CEP152, CEP63, CKAP2L, CLCN5, CLCN7, COG1, COL10A1, COL11A1, COL11A2, COL1A1, COL1A2, COL27A1, COL2A1, COL9A1, COL9A2, COL9A3, COMP, CREB3L1, CREBBP, CRTAP, CSF1R, CSGALNACT1, CSPP1, CTSA, CTSK, CUL7, CYP27B1, DDR2, DDRGK1, DHCR24, DIP2C, DLL3, DLL4, DLX3, DMP1, DNA2, DOCK6, DVL1, DYM, DYNC2H1,EBP, EFNB1, EFTUD2, EIF2AK3, ENAM, ENPP1, EOGT, EP300, ESCO2, EVC, EVC2, EXOC6B, EXT1, EXT2, EXTL3, EZH2, FAM111A, FAM20A, FAM20C, FANCC, FAR1, FBN1, FBN2, FGF23, FGF9, FGFR1, FGFR2, FGFR3, FIG4, FKBP10, FLNA, FLNB, FN1, FTO, FUCA1, GALNS, GALNT3, GDF5, GHR, GHRHR, GHSR, GJA1, GLB1, GLI3, GNAS, GNE, GNPAT, GNPTAB, GNPTG, GNS, GORAB, GPC6, GUSB, HDAC8, HGSNAT, HPGD, HSPG2, HYAL1, CHST14, CHST3, CHSY1, CHUK, IARS2, IDS, IFITM5, IFT122, IFT140, IFT172, IFT43, IFT80, IGF1, IGF2, IHH, INPPL1, JAG1, KAT6B, KIF22, KIF7, KL, KMT2A, LARP7, LBR, LEMD3, LIFR, LIG4, LMNA, LMX1B, LONP1, LRP4, LRP5, LTBP2, MAFB, MAN2B1, MANBA, MBTPS2, MCM5, MCPH1, MEOX1, MESP2, MGP, MMP13, MMP14, MMP2, MMP9, MSX2, MYCN, MYH3, MYO18B, NAGLU, NBAS, NEK1, NEU1, NF1, NFIX, NIPBL, NKX3-2, NOG, NOTCH2, NPPC, NPR2, NPR3, NSD1, NSDHL, NXN, OBSL1, OCRL, ORC1, ORC4, ORC6, OSTM1, P3H1, PAM16, PAPSS2, PCGF2, PCNT, PCYT1A, PDE4D, PEX5, PEX7, PGM3, PHEX, PIK3CA, PLK4, PLOD2, PLS3, POC1A, POLR1C, POLR1D, POP1, POR, PPIB, PPP3CA, PRKAR1A, PTDSS1, PTH1R, PTHLH, PTPN11, PYCR1, R2, RAB33B, RAD21, RBBP8, RBPJ, RECQL4, ROR2, RTTN, RUNX2, SBDS, SC5D, SEC24D, SERPINF1, SERPINH1, SETBP1, SF3B4, SGSH, SH3BP2, SH3PXD2B, SHOX, SKI, SLC17A5, SLC26A2, SLC29A3, SLC34A3, SLC35D1, SLC39A13, SLCO2A1, SMAD3, SMAD4, SMARCAL1, SMC1A, SMC3, SNX10, SOX9, SP7, SQSTM1, SRCAP, STAMBP,SUCO, SULF1, TAB2, TBCE, TBX15, TBX3, TBX4, TBX5, TBX6, TBXAS1, TCF12, TCIRG1, TCOF1, TCTN3, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2, TMEM165, TMEM38B, TNFRSF11A, TNFRSF11B, TNFSF11, TP63, TRAPPC2, TREM2, TRIM37, TRIP11, TRMT10A, TRPS1, TRPV4, TTC21B, TUBGCP6, TYROBP, VDR, VIPAS39, WDR19, WISP3, WNT1, WNT3A, WNT5A, XRCC4, XYLT1, XYLT2, ZMPSTE24
Renal tubular acidosis
Gén: ATP6V0A4, ATP6V1B1, CA2, CLDN16, FOXI1, SLC4A1, SLC4A4, VIPAS39, VPS33B, WDR72
Retinitis pigmentosa
Gén: ABCA4, ABHD12, ACO2, ADAM9, ADAMTS18, ADGRV1, AHI1, AHR, AIPL1, ALMS1, ARL2BP, ARL3, ARL6, ATF6, ATOH7, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BEST1, C1QTNF5, C21ORF2 (CFAP410), C2ORF71 (PCARE), C8ORF37, CA4, CABP4, CACNA1F, CAPN5, CC2D2A, CDH23, CDH3, CDHR1, CEP164, CEP290, CERKL, CHM, CIB2, CLN3, CLRN1, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, COL4A1, CRB1, CRX, CSPP1, CTNNA1, CTNNB1, CYP4V2, DHDDS, DHX38, EFEMP1, ELOVL4, EMC1, ERCC6, ERCC8, EYS, FAM161A, FLVCR1, FSCN2, FZD4, GNAT1, GNAT2, GPR143, GPR179, GRK1, GRM6, GUCA1A, GUCA1B, GUCY2D, HARS, HGSNAT, HK1, HMX1, HTRA1, CHM, IDH3B, IFT140, IFT172, IMPDH1, IMPG1, IMPG2, INPP5E, IQCB1, KCNJ13, KCNV2, KIAA1549, KIF11, KIZ, KLHL7, LCA5, LRAT, LRIT3, LRP5, LZTFL1, MAK, MERTK, MFRP, MKKS, MKS1, MVK, MYO7A, NDP, NEK2, NMNAT1, NPHP1, NPHP3, NPHP4, NR2E3, NRL, NYX, OAT, OFD1, OPA1, OTX2, PANK2, PCDH15, PCYT1A, PDE6A, PDE6B, PDE6C, PDE6G, PDZD7, PEX1, PEX2, PEX26, PEX7, PHYH, PITPNM3, PLA2G5, POMGNT1, PRCD, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, PRPS1, RAB28, RAX2, RBP3, RBP4, RCBTB1, RD3, RDH11, RDH12, RDH5, RGR, RGS9, RHO, RIMS1, RLBP1, ROM1, RP1, RP1L1, RP2, RP9, RPE65, RPGR, RPGRIP1, RPGRIP1L, RS1, SAG, SCAPER, SDCCAG8, SEMA4A, SLC24A1, SLC38A8, SLC7A14, SNRNP200, SPATA7, SPP2, TIMP3, TMEM237, TOPORS, TRIM32, TRNT1, TRPM1, TSPAN12, TTC8, TTPA, TUB, TULP1, USH1C, USH1G, USH2A, VCAN, VPS13B, WDPCP, WDR19, WFS1, WHRN, ZNF408, ZNF423, ZNF513
