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Malformaciones y síndromes

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Resultado búsqueda

Anomalías congénitas del aparato branquial

10 genes

AMER1, COL11A1, COL11A2, COL2A1, DLX6, EIF4A3, MYMK, SATB2, SOX9, TBX1

Anomalías vasculares

35 genes

ACVRL1, AKT1, BRAF, CAMTA1, CCBE1, ELMO2, ENG, EPHB4, FLT4, FOS, FOSB, FOXC2, GATA2, GJC2, GNA11, GNA14, GNAQ, IDH1, IDH2, KIF11, KRIT1, MAP2K1, MAP3K3, MYC, PDCD10, PIK3CA, PTEN, PTPN14, RASA1, SMAD4, SOX18, STAMBP, TEK, TFE3, VEGFC

Cavernomatosis cerebral

4 genes

CCM2, KRIT1, PDCD10, RASA1

Craneosinostosis

56 genes

ALPL, ALX3, ALX4, ATR, BMP2, BMP4, BPNT2, CD96, CDC45, CENPE, CEP152, COLEC10, CYP26B1, DPH1, EFNB1, ERF, ESCO2, FBN1, FGF9, FGFR1, FGFR2, FGFR3, FLNA, FREM1, GLI3, GLIS3, HNRNPK, IFT122, IFT140, IFT43, IHH, IL11RA, IRX5, KAT6A, KRAS, MASP1, MEGF8, MSX2, POR, RAB23, RBBP8, RECQL4, RUNX2, SCARF2, SKI, SMAD6, SMO, SPECC1L, TCF12, TCOF1, TGFBR1, TGFBR2, TWIST1, WDR19, WDR35, ZIC1

Discapacidad intelectual

1939 genes

AAAS, AARS1, AASS, ABAT, ABCB11, ABCB7, ABCC6, ABCC8, ABCC9, ABCD1, ABCD4, ABHD5, ACAD9, ACADM, ACADS, ACADVL, ACAN, ACAT1, ACAT2, ACO2, ACOX1, ACOX2, ACP5, ACSL4, ACTA1, ACTB, ACTG1, ACTL6A, ACTL6B, ACVR1, ACY1, ADA, ADAM22, ADAMTS3, ADAR, ADAT3, ADCY3, ADGRB3, ADGRG1, ADGRG6, ADIPOR1, ADK, ADNP, ADORA1, ADPRS, ADRA2B, ADSL, AFF2, AFF4, AGA, AGBL5, AGK, AGL, AGPAT2, AGPS, AGT, AGTR1, AGTR2, AHCY, AHDC1, AHI1, AHSG, AIFM1, AIMP1, AIMP2, AIPL1, AK2, AKR1D1, AKT1, AKT3, ALDH18A1, ALDH1A3, ALDH3A2, ALDH4A1, ALDH5A1, ALDH7A1, ALDOA, ALDOB, ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, ALMS1, ALPL, ALS2, ALX1, ALX3, ALX4, AMACR, AMER1, AMPD2, AMT, ANAPC1, ANK1, ANK3, ANKH, ANKRD11, ANO10, ANTXR1, AP1S1, AP1S2, AP2M1, AP3B1, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, APC, APC2, APOB, APPL1, APTX, ARF1, ARFGEF2, ARG1, ARHGAP31, ARHGEF2, ARHGEF6, ARHGEF9, ARID1A, ARID1B, ARID2, ARL13B, ARL6, ARL6IP6, ARMC4, ARMC9, ARSA, ARSB, ARSL, ARV1, ARX, ASAH1, ASH1L, ASL, ASNS, ASPA, ASPH, ASPM, ASS1, ASXL1, ASXL2, ASXL3, ATAD3A, ATG5, ATIC, ATL1, ATM, ATP13A2, ATP1A1, ATP1A2, ATP1A3, ATP2A2, ATP6AP2, ATP6V0A2, ATP6V1A, ATP6V1B1, ATP6V1B2, ATP7A, ATP8A2, ATP8B1, ATR, ATRX, ATXN1, ATXN7, AUH, AVPR2, B3GALNT2, B3GALT6, B4GALT1, B4GALT7, B9D1, BAP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCAP31, BCKDHA, BCKDHB, BCKDK, BCL11A, BCOR, BCS1L, BFSP2, BHLHA9, BICD2, BIN1, BLM, BMP4, BMPER, BMPR1B, BNC2, BPNT2, BRAF, BRAT1, BRCA2, BRIP1, BRPF1, BRWD3, BSCL2, BSND, BTD, BUB1B, C12ORF57, C12ORF65, C8ORF37, CA2, CA8, CACNA1A, CACNA1C, CACNA1D, CACNA1E, CACNA2D1, CACNA2D2, CACNG2, CAD, CALM2, CAMK2A, CAMK2B, CAMK4, CAMTA1, CASK, CAV3, CBL, CBS, CC2D1A, CC2D2A, CCBE1, CCDC103, CCDC114, CCDC115, CCDC174, CCDC22, CCDC28B, CCDC39, CCDC40, CCDC65, CCDC88A, CCDC88C, CCNA2, CCND2, CCNK, CCNO, CCNQ, CD96, CDC42, CDC45, CDC6, CDCA7, CDH15, CDH23, CDH3, CDK13, CDK19, CDK5RAP2, CDK6, CDK8, CDKL5, CDKN1C, CDON, CDT1, CELSR3, CENPE, CENPF, CENPJ, CEP104, CEP120, CEP135, CEP152, CEP19, CEP290, CEP41, CEP57, CEP63, CEP83, CERS1, CERT1, CFAP300, CFAP410, CHAMP1, CHD1, CHD2, CHD3, CHD4, CHD7, CHD8, CHI3L1, CHKB, CHL1, CHM, CHMP1A, CHRDL1, CHRNA4, CHRNA7, CHRNG, CHST14, CHST3, CHSY1, CHTOP, CHUK, CIB2, CIC, CKAP2L, CLCN4, CLCN7, CLCNKA, CLCNKB, CLDN19, CLIC2, CLIP2, CLK2, CLN3, CLN5, CLN8, CLP1, CLPB, CLTC, CNBP, CNGB3, CNKSR2, CNNM2, CNOT3, CNPY3, CNTN2, CNTN4, CNTNAP2, COA7, COA8, COASY, COG1, COG4, COG5, COG6, COG7, COG8, COL10A1, COL11A1, COL11A2, COL18A1, COL1A1, COL2A1, COL3A1, COL4A1, COL4A3, COL4A4, COL6A1, COL6A3, COL9A1, COL9A2, COL9A3, COLEC10, COLEC11, COMP, COPB2, COQ2, COQ4, COQ7, COQ8A, COQ9, COX10, COX14, COX15, COX20, COX6B1, COX7B, CPE, CPLANE1, CPLX1, CPS1, CRADD, CRB1, CRB2, CRBN, CREBBP, CRIPT, CRPPA, CRX, CRYAA, CRYBA1, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGC, CRYGD, CSF1R, CSNK2A1, CSPP1, CSTB, CTBP1, CTC1, CTCF, CTDP1, CTH, CTLA4, CTNNA2, CTNNB1, CTNND2, CTNS, CTSA, CTSD, CTSK, CUL4B, CUL7, CUX1, CUX2, CWC27, CXCL10, CYB5R3, CYC1, CYFIP2, CYP1B1, CYP27A1, CYP2U1, CYP7B1, D2HGDH, DAB1, DAG1, DARS1, DARS2, DBT, DCAF17, DCDC2, DCHS1, DCP2, DCPS, DCTN1, DCX, DDB2, DDC, DDHD1, DDHD2, DDOST, DDR2, DDX11, DDX3X, DDX59, DEAF1, DEGS1, DEPDC5, DGCR2, DGKD, DGUOK, DHCR24, DHCR7, DHDDS, DHFR, DHODH, DHTKD1, DHX30, DIAPH1, DIP2B, DIS3L2, DKC1, DLAT, DLD, DLG1, DLG3, DLGAP2, DLL3, DLL4, DLX4, DMD, DMP1, DMPK, DNA2, DNAAF3, DNAAF4, DNAH9, DNAJC19, DNAJC21, DNAJC6, DNM1, DNMT3A, DNMT3B, DOCK3, DOCK8, DOLK, DPAGT1, DPF2, DPH1, DPM1, DPP6, DPYD, DPYS, DRD3, DRD5, DSE, DSP, DSPP, DSTYK, DVL1, DVL3, DXO, DYM, DYNC1H1, DYNC1I2, DYNC2H1, DYRK1A, EARS2, EBF3, EBP, ECEL1, ECM1, EDA, EDAR, EDC3, EDN1, EDNRA, EDNRB, EEF1A2, EFNB1, EFTUD2, EGR2, EHMT1, EHMT2, EIF2AK3, EIF2B3, EIF2B4, EIF2B5, EIF2S3, EIF4A3, ELAC2, ELN, ELOVL4, ELP2, EMC1, EMC10, EMX2, ENPP1, ENTPD1, EOGT, EP300, EPB41L1, EPG5, EPRS1, ERBB4, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC6L2, ERCC8, ERF, ERLIN2, ERMARD, ESCO2, ESRRG, ETFA, ETFB, ETFDH, ETHE1, EVC, EVC2, EXOSC3, EXOSC9, EXT1, EXT2, EXTL3, EYA1, EZH2, EZR, FAH, FAM111A, FAM126A, FAM20A, FAM20C, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FAR1, FARS2, FARSB, FASTKD2, FAT1, FAT4, FBN1, FBN2, FBP1, FBXL4, FBXO11, FBXO31, FCGR2A, FCGR2B, FCN3, FDFT1, FGA, FGD1, FGF10, FGF12, FGF14, FGF3, FGFR1, FGFR2, FGFR3, FH, FHL1, FIG4, FKBP14, FKRP, FKTN, FLAD1, FLNA, FLNB, FLT4, FLVCR1, FLVCR2, FMN2, FMR1, FOLR1, FOXC1, FOXC2, FOXE1, FOXE3, FOXF1, FOXG1, FOXL2, FOXN1, FOXP1, FOXP2, FOXP3, FOXRED1, FRAS1, FREM1, FREM2, FRMD7, FRMPD4, FTCD, FTL, FTO, FTSJ1, FUCA1, FXR1, FYCO1, FZD6, GAA, GABBR2, GABRA1, GABRA2, GABRA3, GABRB1, GABRB2, GABRB3, GABRG2, GAD1, GALC, GALE, GALK1, GALNS, GALNT2, GALT, GAMT, GAN, GAS8, GATA2, GATA4, GATA6, GATAD2B, GATM, GBA, GBA2, GBE1, GC, GCDH, GCH1, GCK, GCM2, GCSH, GDAP2, GDF5, GDF6, GDI1, GDNF, GFAP, GFM1, GFM2, GHR, GJA1, GJA3, GJA8, GJC2, GK, GLB1, GLDC, GLE1, GLI2, GLI3, GLIS3, GLMN, GLO1, GLRA1, GLRB, GLS, GLUD1, GLUL, GLYCTK, GM2A, GMNN, GMPPA, GMPPB, GNAI1, GNAI3, GNAO1, GNAQ, GNAS, GNB1, GNE, GNPAT, GNPTAB, GNPTG, GNS, GORAB, GPAA1, GPC3, GPC4, GPI, GPR161, GPR88, GPSM2, GPT2, GRHL3, GRIA1, GRIA3, GRID2, GRIK2, GRIN1, GRIN2A, GRIN2B, GRM1, GRM6, GSS, GSX2, GTF2E2, GTF2H5, GTF2I, GTPBP2, GTPBP3, GUCY2C, GUF1, GUSB, H1-4, HAAO, HACE1, HADH, HADHA, HADHB, HAX1, HBA1, HCAR1, HCCS, HCFC1, HCN1, HDAC1, HDAC2, HDAC4, HDAC8, HECW2, HEPACAM, HERC1, HERC2, HESX1, HEXA, HEXB, HFE, HFM1, HGSNAT, HIBCH, HINT1, HIVEP2, HLA-DQB1, HLA-DRB1, HLCS, HMGB3, HMGCL, HMGCS2, HNF1B, HNF4A, HNMT, HNRNPA2B1, HNRNPK, HNRNPR, HNRNPU, HOXA1, HOXA13, HOXC13, HOXD1, HOXD13, HPD, HPGD, HPRT1, HPS1, HPSE2, HR, HRAS, HSD17B10, HSD17B4, HSD3B7, HSF4, HSPA9, HSPD1, HSPG2, HTR1A, HTT, HUWE1, HYAL1, HYDIN, HYLS1, IARS2, IBA57, IDS, IDUA, IER3IP1, IFIH1, IFITM5, IFT122, IFT140, IFT172, IFT27, IFT43, IFT80, IGBP1, IGF1, IGF1R, IGF2, IGFBP1, IGHMBP2, IGSF1, IHH, IKBKG, IL11RA, IL1RAPL1, IL6ST, ILDR1, IMPA1, IMPDH1, INPP5E, INPPL1, INTS1, INTS8, INTU, IQSEC1, IQSEC2, IRF2BPL, IRF6, ITGA3, ITGA7, ITGB6, ITPR1, IVD, IYD, JAG1, JAGN1, JAK3, JMJD1C, KALRN, KANK1, KANK4, KANSL1, KAT6A, KAT6B, KBTBD13, KCNA2, KCNB1, KCNC1, KCNC3, KCND3, KCNH1, KCNJ1, KCNJ10, KCNJ11, KCNJ6, KCNK9, KCNN3, KCNQ1, KCNQ2, KCNQ3, KCNQ5, KCNT1, KCNT2, KCTD1, KCTD7, KDM1A, KDM5B, KDM5C, KDM6A, KIAA0556, KIAA0586, KIAA0825, KIAA1109, KIDINS220, KIF11, KIF14, KIF1A, KIF22, KIF2A, KIF4A, KIF5C, KIF6, KIF7, KIFBP, KIRREL3, KIT, KLF1, KLF8, KLHL40, KMT2A, KMT2C, KMT2D, KMT2E, KMT5B, KPTN, KRAS, KRIT1, KY, KYNU, L1CAM, L2HGDH, LAMA1, LAMA2, LAMB1, LAMC3, LAMP2, LARGE1, LARP7, LARS1, LAS1L, LBR, LEMD3, LEPR, LFNG, LHX3, LHX4, LIFR, LIG4, LIMK1, LINS1, LMAN2L, LMBR1, LMBRD1, LMNA, LMNB1, LMX1B, LNPK, LRP2, LRP4, LRP5, LRPPRC, LRRC6, LTBP2, LTBP3, LYRM7, LYST, LZTFL1, MAB21L2, MACF1, MAF, MAFB, MAGEL2, MAGI2, MAGT1, MAN1B1, MAN2B1, MANBA, MAOA, MAP11, MAP2K1, MAP2K2, MAP3K1, MAP3K7, MAPK10, MAPRE2, MARCHF6, MARS2, MASP1, MAST1, MAT1A, MATN3, MATR3, MBD5, MBOAT7, MBTPS2, MC2R, MCCC1, MCCC2, MCEE, MCOLN1, MCPH1, MECP2, MED12, MED13, MED13L, MED17, MED23, MED25, MEF2C, MEGF10, MEGF8, MEIS2, MESP2, METTL23, METTL5, MFF, MFN2, MFRP, MFSD2A, MFSD8, MGAT2, MGP, MICU1, MID1, MID2, MIOS, MITF, MKKS, MKS1, MLC1, MLH1, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MME, MMP13, MMP21, MMUT, MNX1, MOCS1, MOCS2, MOGS, MPDU1, MPDZ, MPI, MPLKIP, MPV17, MPZ, MRAS, MRE11, MRM2, MRPS14, MSH2, MSH6, MSL3, MSMO1, MSTO1, MSX1, MSX2, MTFMT, MTHFR, MTM1, MTO1, MTOR, MTR, MTRR, MVK, MYCN, MYH3, MYH9, MYL7, MYO5A, MYO5B, MYSM1, MYT1L, NAA10, NAA15, NACC1, NADK2, NAGA, NAGLU, NAGS, NALCN, NANS, NARS2, NAT8L, NAXE, NBAS, NBEA, NBN, NCAPG2, NCAPH, NDE1, NDP, NDST1, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA9, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB3, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NEB, NECTIN4, NEFL, NEK1, NEU1, NEXMIF, NF1, NFASC, NFE2L2, NFIA, NFIB, NFIX, NFU1, NGEF, NGF, NGLY1, NHEJ1, NHP2, NHS, NIPBL, NKAIN2, NKX2-1, NKX2-5, NKX2-6, NKX3-2, NLGN3, NLGN4X, NLRP3, NMNAT1, NODAL, NOG, NONO, NOS3, NOTCH2, NPC1, NPC2, NPHP1, NPHP3, NPHP4, NPHS1, NPHS2, NPM1, NPR2, NPRL2, NR1I3, NR2F1, NR2F2, NRAS, NRDC, NRXN1, NSD1, NSDHL, NSUN2, NT5C2, NT5C3A, NTNG1, NTRK1, NTRK2, NUBPL, NUP107, NUP133, NUS1, NYX, OBSL1, OCLN, OCRL, ODAPH, OFD1, OLA1, OPA1, OPHN1, ORC1, ORC4, ORC6, OTC, OTOGL, OTUD6B, OTULIN, OTX2, OXCT1, P3H1, P4HTM, PACS1, PACS2, PAFAH1B1, PAH, PAK2, PAK3, PALB2, PANK2, PAPSS2, PARK7, PARN, PARS2, PAX2, PAX3, PAX6, PAX7, PAX8, PAX9, PBX1, PC, PCARE, PCBD1, PCCA, PCCB, PCDH12, PCDH19, PCGF2, PCLO, PCNT, PCYT1A, PDCD1, PDE4D, PDE6D, PDE6G, PDGFRB, PDHA1, PDHX, PDP1, PDSS1, PDSS2, PEPD, PER3, PET100, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGAP1, PGAP2, PGAP3, PGK1, PGM1, PGM3, PHACTR1, PHF21A, PHF6, PHF8, PHGDH, PHIP, PHOX2B, PIEZO2, PIGA, PIGB, PIGC, PIGF, PIGG, PIGL, PIGM, PIGN, PIGO, PIGT, PIGV, PIGY, PIK3CA, PIK3R1, PIK3R2, PINK1, PITX2, PITX3, PKD1L1, PKHD1, PLA2G6, PLCE1, PLK4, PLOD1, PLOD2, PLOD3, PLP1, PLPBP, PMM2, PMPCA, PMPCB, PMS2, PNKP, PNP, PNPLA6, PNPT1, POC1A, POC1B, POGZ, POLA1, POLG, POLR1C, POLR1D, POLR2A, POLR3A, POLR3B, POMGNT1, POMGNT2, POMK, POMT1, POMT2, POP1, PORCN, POU1F1, POU3F1, POU3F2, POU3F3, PPA2, PPM1D, PPOX, PPP1CB, PPP1R15B, PPP2CA, PPP2R1A, PPP2R2C, PPP2R5D, PPP3CA, PPT1, PQBP1, PRDM12, PRDM8, PRDX1, PREPL, PRICKLE2, PRKAR1A, PRKD1, PRKDC, PRKRA, PRMT7, PROC, PRODH, PROP1, PRPS1, PRR12, PRRT2, PRSS12, PRSS56, PRUNE1, PSAP, PSMB8, PSMD12, PSPH, PTCH1, PTCH2, PTCHD1, PTDSS1, PTEN, PTF1A, PTH1R, PTHLH, PTPN11, PTPN14, PTPN22, PTRH2, PTS, PUF60, PUM1, PURA, PUS1, PUS3, PUS7, PXDN, PYCR1, PYCR2, PYGL, QARS1, QDPR, QKI, QRICH1, RAB18, RAB23, RAB33B, RAB39B, RAB3GAP1, RAB3GAP2, RAB40AL, RAC1, RAD21, RAF1, RAI1, RALA, RANBP2, RAPSN, RARB, RARS1, RARS2, RASA1, RAX, RBBP8, RBM10, RBM28, RBM8A, RBMX, RBPJ, RBSN, RECQL4, RELN, REN, RERE, REST, RET, RETREG1, RFT1, RFX6, RHD, RHEB, RHOBTB2, RIPK4, RIT1, RLIM, RMND1, RNASEH1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF113A, RNF125, RNF135, ROBO3, ROGDI, ROR2, RORA, RP2, RPE65, RPGRIP1, RPGRIP1L, RPIA, RPL10, RPL11, RPS19, RPS23, RPS6KA3, RRAS2, RRM2B, RSPH1, RSPH3, RSPO4, RSRC1, RTEL1, RTN4IP1, RTTN, RUBCN, RUNX2, RXYLT1, RYR1, SACS, SALL1, SALL4, SAMD12, SAMD9, SAMHD1, SAR1B, SARS1, SASS6, SATB2, SBDS, SC5D, SCARF2, SCN11A, SCN1A, SCN1B, SCN2A, SCN3A, SCN4A, SCN8A, SCN9A, SCO1, SCO2, SCRIB, SDC2, SDCCAG8, SDHA, SDHAF1, SDHD, SEC23B, SEC31A, SEC61A1, SELENBP1, SELENON, SEM1, SEMA3E, SEPSECS, SERAC1, SETBP1, SETD1B, SETD2, SETD5, SETMAR, SF3B4, SGSH, SH3BP2, SH3PXD2B, SHANK2, SHANK3, SHH, SHOC2, SHOX, SHROOM4, SIK1, SIL1, SIM1, SIN3A, SIX1, SIX3, SIX5, SKI, SKIV2L, SLC10A7, SLC12A1, SLC12A6, SLC13A5, SLC16A1, SLC16A2, SLC17A5, SLC19A2, SLC19A3, SLC1A2, SLC1A3, SLC1A4, SLC20A2, SLC22A5, SLC25A1, SLC25A12, SLC25A13, SLC25A15, SLC25A20, SLC25A24, SLC25A26, SLC25A38, SLC25A4, SLC25A46, SLC26A2, SLC26A4, SLC27A4, SLC2A1, SLC2A10, SLC2A2, SLC30A9, SLC33A1, SLC35A1, SLC35A2, SLC35A3, SLC35C1, SLC35D1, SLC36A2, SLC39A13, SLC39A14, SLC39A8, SLC3A1, SLC45A1, SLC46A1, SLC4A10, SLC4A4, SLC52A2, SLC52A3, SLC5A5, SLC5A7, SLC6A1, SLC6A17, SLC6A19, SLC6A20, SLC6A3, SLC6A4, SLC6A5, SLC6A8, SLC6A9, SLC9A1, SLC9A6, SLC9A9, SLX4, SMAD3, SMAD4, SMARCA2, SMARCA4, SMARCAL1, SMARCB1, SMARCC2, SMARCE1, SMC1A, SMC3, SMN1, SMO, SMOC1, SMPD1, SMPD4, SMS, SNAI2, SNAP25, SNAP29, SNCA, SNCB, SNIP1, SNRPB, SNX14, SNX3, SOBP, SON, SOS1, SOX10, SOX11, SOX17, SOX2, SOX3, SOX4, SOX5, SOX9, SPAG1, SPART, SPAST, SPATA5, SPEG, SPG11, SPINK5, SPOCK1, SPR, SPRED1, SPRTN, SPTAN1, SPTBN2, SQSTM1, SRCAP, SRD5A3, SRGAP2, SRGAP2C, SRGAP3, SRPX2, SRY, SSR4, ST3GAL3, ST3GAL5, STAG1, STAG2, STAMBP, STAR, STARD7, STAT1, STIL, STRA6, STS, STT3A, STT3B, STXBP1, STXBP5L, SUCLA2, SUCLG1, SUMF1, SUOX, SURF1, SUZ12, SVBP, SYN1, SYN2, SYNE1, SYNGAP1, SYP, SYT1, SYT14, SZT2, TAB2, TACO1, TAF1, TAF13, TAF1C, TAF2, TAF6, TANGO2, TAOK1, TARDBP, TAT, TAZ, TBC1D20, TBC1D23, TBC1D24, TBC1D7, TBCD, TBCE, TBCK, TBL1XR1, TBP, TBR1, TBX1, TBX20, TBX22, TBX3, TBX4, TBX5, TBXAS1, TCF12, TCF20, TCF4, TCN2, TCOF1, TCTN1, TCTN2, TCTN3, TDGF1, TDO2, TDP2, TECR, TEK, TENM3, TENT5A, TERT, TF, TFAP2A, TFAP2B, TFG, TG, TGDS, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2, TGIF1, TH, THOC2, THOC6, THRA, THRB, TIMM8A, TIMMDC1, TINF2, TK2, TKT, TLK2, TLR3, TM4SF20, TMCO1, TMEM106B, TMEM126B, TMEM138, TMEM165, TMEM216, TMEM231, TMEM237, TMEM240, TMEM63A, TMEM67, TMEM70, TMEM87B, TMLHE, TMPRSS6, TNFRSF11B, TNIK, TNK2, TOE1, TONSL, TOP3A, TP63, TPK1, TPM3, TPO, TPP1, TPRKB, TRAF3IP1, TRAF7, TRAIP, TRAK1, TRAPPC11, TRAPPC12, TRAPPC2, TRAPPC6B, TRAPPC9, TREX1, TRH, TRIM32, TRIM37, TRIO, TRIP11, TRIP12, TRIP13, TRIP4, TRIT1, TRMT10A, TRNT1, TRPM1, TRPS1, TRPV4, TRRAP, TSC1, TSC2, TSEN15, TSEN54, TSHB, TSHR, TSPAN7, TTC19, TTC37, TTC7A, TTC8, TTI2, TUBA1A, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, TUBGCP6, TUSC3, TWIST1, TWIST2, TXNL4A, TYR, TYRP1, UBA5, UBE2A, UBE3A, UBE3B, UBIAD1, UBR1, UCHL1, UFC1, UFM1, UGT1A1, UMPS, UNC13A, UNC80, UPB1, UPF3B, UQCRQ, UROC1, UROS, USB1, USP27X, USP7, USP9X, UVSSA, VARS1, VDR, VIPAS39, VLDLR, VPS13B, VPS13D, VPS33B, VPS37A, VPS53, VRK1, VSNL1, VSX2, VWA3B, WAC, WARS2, WASF1, WASHC4, WDFY3, WDPCP, WDR11, WDR19, WDR26, WDR34, WDR35, WDR37, WDR45, WDR60, WDR62, WDR73, WDR81, WFS1, WIPI2, WNT1, WNT10B, WNT3, WNT5A, WNT7A, WRAP53, WT1, WWOX, XPA, XPC, XPR1, XRCC4, XYLT1, YAP1, YARS1, YEATS2, YWHAG, YWHAZ, YY1, YY1AP1, ZBTB11, ZBTB16, ZBTB18, ZBTB20, ZBTB24, ZC3H14, ZC4H2, ZDHHC15, ZDHHC9, ZEB2, ZFP57, ZFYVE26, ZIC1, ZIC2, ZIC3, ZMPSTE24, ZMYM3, ZMYM4, ZMYM6, ZMYND11, ZNF142, ZNF148, ZNF385B, ZNF407, ZNF41, ZNF423, ZNF462, ZNF592, ZNF674, ZNF711, ZNF81, ZSWIM6

Discapacidad intelectual ligada al X

99 genes

ABCD1, ACSL4, AFF2, AP1S2, ARHGEF6, ARHGEF9, ARX, ATP6AP2, ATP7A, ATRX, BCOR, BRWD3, CASK, CDKL5, CLCN4, CUL4B, DCX, DDX3X, DKC1, DLG3, ELK1, FANCB, FGD1, FLNA, FMR1, FTSJ1, GDI1, GK, GPC3, GRIA3, HCCS, HPRT1, HSD17B10, HUWE1, IDS, IGBP1, IL1RAPL1, IQSEC2, KDM5C, KLF8, L1CAM, LAMP2, MAGT1, MAOA, MBTPS2, MECP2, MED12, MID1, MTM1, NDP, NDUFA1, NEXMIF, NHS, NLGN3, NLGN4X, NSDHL, NXF5, OCRL, OFD1, OPHN1, OTC, PAK3, PCDH19, PDHA1, PGK1, PHF6, PHF8, PLP1, PORCN, PQBP1, PRPS1, PTCHD1, RAB39B, RBM10, RPL10, RPS6KA3, SHROOM4, SLC16A2, SLC6A8, SLC9A6, SMC1A, SMS, SOX3, SRPX2, SYN1, SYP, TAF1, TIMM8A, TSPAN7, UBE2A, UPF3B, USP9X, ZC4H2, ZCCHC12, ZDHHC9, ZNF41, ZNF674, ZNF711, ZNF81

Displasia epifisaria múltiple

6 genes

COL9A1, COL9A2, COL9A3, COMP, MATN3, SLC26A2

Displasia septo-óptica

11 genes

ARNT2, FGFR1, HESX1, LHX3, LHX4, OTX2, POU1F1, PROKR2, PROP1, SOX2, SOX3

Displasias esqueléticas

213 genes

ABCC9, ACAN, ACP5, ACVR1, ADAMTS10, ADAMTSL2, AFF4, AGPS, ALG9, ALPL, AMER1, ANKH, ANO5, ARSL, ATP6V0A2, B3GALT6, B3GAT3, B4GALT7, BMP1, BMP2, BMPR1B, C2CD3, CA2, CANT1, CCN6, CDH3, CDKN1C, CEP120, CFAP410, CHST3, CILK1, CLCN7, COL10A1, COL11A1, COL11A2, COL1A1, COL1A2, COL2A1, COL3A1, COL9A1, COL9A2, COL9A3, COMP, CRTAP, CSF1R, CSGALNACT1, CTSA, CTSK, CUL7, DCHS1, DDR2, DHCR24, DLL3, DMP1, DVL1, DYM, DYNC2H1, DYNC2LI1, EBP, EIF2AK3, ENPP1, ESCO2, EVC, EVC2, EXT1, EXT2, EXTL3, FAM20C, FAT4, FBN1, FGF10, FGF23, FGF9, FGFR1, FGFR2, FGFR3, FKBP10, FLNA, FLNB, FN1, FZD2, GALNS, GDF5, GJA1, GLB1, GLI3, GNAS, GNPAT, GNPTAB, GORAB, GPC6, HOXD13, HSPA9, HSPG2, IARS2, IDUA, IFITM5, IFT122, IFT140, IFT172, IFT52, IFT80, IHH, INPPL1, KIF22, KIF7, LBR, LEMD3, LFNG, LIFR, LMBR1, LMNA, LMX1B, LONP1, LRP5, LTBP3, MAB21L2, MAP3K7, MATN3, MBTPS1, MMP13, MMP2, MMP9, NANS, NEK1, NKX3-2, NOTCH2, NPPC, NPR2, NSDHL, OBSL1, P3H1, P4HB, PAM16, PAPSS2, PCNT, PCYT1A, PDE4D, PEX5, PEX7, PGM3, PHEX, PISD, PLOD2, PLS3, POP1, PPIB, PRKAR1A, PRMT7, PTH1R, PTHLH, RECQL4, ROR2, RSPRY1, RUNX2, SALL1, SALL4, SBDS, SEC24D, SERPINF1, SERPINH1, SF3B4, SFRP4, SH3PXD2B, SHH, SHOX, SLC10A7, SLC26A2, SLC34A3, SLC35D1, SLC39A13, SMAD4, SMARCAL1, SOST, SOX9, SP7, TBCE, TBX15, TBX3, TBX4, TBX5, TBXAS1, TCIRG1, TCTN3, TGFB1, THRA, TMEM165, TMEM216, TMEM38B, TMEM67, TNFRSF11A, TNFRSF11B, TNFSF11, TONSL, TRAPPC2, TREM2, TRIP11, TRPS1, TRPV4, TRPV6, TTC21B, TWIST1, TYROBP, WDR19, WDR34, WDR35, WDR60, WNT1, WNT3, WNT5A, WNT7A, XYLT1, ZMPSTE24

Displasias esqueléticas ampliado

519 genes

ABCC9, ABL1, ACAN, ACP5, ACVR2B, ADGRV1, ADI1, AFF3, AGPS, AHI1, AIPL1, AKT1, ALG9, ALPL, ALX1, ALX3, ALX4, AMER1, ANKH, ANKRD11, ANO5, ANTXR2, ARHGAP31, ARID1A, ARID1B, ARL13B, ARL6, ARSB, ARSL, ASXL1, ASXL2, ATP6V0A2, ATP7A, ATXN10, B3GALT6, B3GAT3, B4GALT7, B9D1, B9D2, BANF1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BGN, BHLHA9, BMP1, BMP2, BMPER, BMPR1B, BPNT2, C2CD3, CA2, CANT1, CASR, CC2D2A, CCDC28B, CCDC39, CCDC8, CCN6, CCNQ, CDC45, CDC6, CDH23, CDH3, CDKN1C, CDT1, CEP120, CEP164, CEP290, CEP41, CFAP410, CFTR, CHST14, CHST3, CHSY1, CILK1, CLCN5, CLCN7, CLRN1, COG1, COL10A1, COL11A1, COL11A2, COL12A1, COL1A1, COL1A2, COL2A1, COL5A1, COL9A1, COL9A2, COL9A3, COLEC11, COMP, CPLANE1, CRB1, CREB3L1, CREBBP, CRELD1, CRTAP, CRX, CSPP1, CTSA, CTSC, CTSK, CUL7, CYP26B1, CYP27B1, DACT1, DCC, DDR2, DHCR24, DHODH, DIS3L2, DLL3, DLL4, DLX3, DLX5, DLX6, DMP1, DNAAF1, DNAAF2, DNAAF3, DNAH11, DNAH5, DNAI1, DNAI2, DNAL1, DNMT3A, DOCK6, DOLPP1, DPM1, DPM2, DPM3, DSPP, DVL1, DVL3, DYM, DYNC2H1, DYNC2LI1, EBP, EED, EFNB1, EFTUD2, EIF2AK3, ENPP1, EOGT, EP300, ERF, ESCO2, ESR1, ETF1, EVC, EVC2, EXT1, EXT2, EXTL3, EZH2, FAM111A, FAM20C, FBLN1, FBN1, FBN2, FBXW4, FERMT3, FGF10, FGF16, FGF23, FGF8, FGF9, FGFR1, FGFR2, FGFR3, FIG4, FKBP10, FLNA, FLNB, FMN1, FOXC1, FOXH1, FUCA1, FZD2, GALNS, GALNT3, GDF1, GDF5, GDF6, GHR, GJA1, GLB1, GLI3, GLIS2, GNAS, GNPAT, GNPTAB, GNPTG, GNS, GORAB, GPC6, GPX4, GREM1, GSC, GUCY2D, GUSB, GZF1, HDAC4, HDAC5, HDAC8, HES7, HGSNAT, HNRNPK, HOXA11, HOXA13, HOXD13, HPGD, HSPA9, HSPG2, HYLS1, IDH1, IDH2, IDS, IDUA, IFITM5, IFT122, IFT140, IFT172, IFT43, IFT52, IFT80, IFT81, IFT88, IHH, IKBKG, IL11RA, IL1RN, IMPDH1, INPPL1, INVS, IQCB1, KAT6A, KAT6B, KCNJ13, KIF22, KIF7, LBR, LCA5, LEFTY2, LEMD3, LFNG, LIFR, LMBR1, LMNA, LMX1B, LONP1, LOXL3, LPIN2, LRAT, LRP4, LRP5, LRP6, LTBP3, MAFB, MAN2B1, MAN2C1, MAP3K7, MATN3, MCM5, MEGF8, MEOX1, MESP2, MGP, MKKS, MKS1, MMP13, MMP14, MMP2, MMP9, MNX1, MPDU1, MSX2, MTAP, MYCN, MYO7A, NAGLU, NANS, NBAS, NEK1, NEK8, NEU1, NF1, NFIX, NIN, NIPBL, NKX2-5, NKX3-2, NLRP3, NME8, NODAL, NOG, NOTCH1, NOTCH2, NPHP1, NPHP3, NPHP4, NPPC, NPR2, NSD1, NSDHL, OBSL1, OFD1, ORC1, ORC4, ORC6, OSTM1, P3H1, P4HB, PAM16, PAPSS2, PAX3, PCARE, PCDH15, PCNT, PCYT1A, PDE3A, PDE4D, PEX5, PEX7, PGM3, PHEX, PHF6, PHGDH, PIGT, PIGV, PIK3R1, PIN1, PIR, PITX1, PKD2, PKHD1, PLEKHM1, PLK4, PLOD1, PLOD2, PLS3, POC1A, POLR1A, POLR1C, POLR1D, POP1, POR, PPIB, PRKAR1A, PRMT7, PSAT1, PSPH, PTDSS1, PTH1R, PTHLH, PTPN11, PTPRQ, PUF60, PYCR1, RAB23, RAB33B, RAB3GAP2, RAD21, RASGRP2, RBM8A, RBPJ, RD3, RDH12, RECQL4, RFT1, ROR2, RPE65, RPGR, RPGRIP1, RPGRIP1L, RSPH4A, RSPH9, RUNX2, SALL1, SALL4, SBDS, SCARF2, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, SEC24D, SEM1, SERPINF1, SERPINH1, SETD2, SF3B4, SFRP4, SGSH, SH3BP2, SH3PXD2B, SHH, SHOX, SKI, SLC10A7, SLC17A5, SLC26A2, SLC29A3, SLC34A3, SLC35D1, SLC39A13, SLCO2A1, SLCO5A1, SMAD3, SMAD4, SMARCA2, SMARCA4, SMARCAL1, SMARCB1, SMARCE1, SMC1A, SMC3, SMOC1, SNRPB, SNX10, SOST, SOX11, SOX9, SP7, SPARC, SPATA7, SPECC1L, SULF1, SUMF1, TALDO1, TAPT1, TBCE, TBX15, TBX3, TBX4, TBX5, TBX6, TBXAS1, TCF12, TCIRG1, TCOF1, TCTEX1D2, TCTN1, TCTN2, TCTN3, TDP2, TERT, TGFB1, TGFB2, TGFBR1, TGFBR2, THPO, THRA, TMCO1, TMEM138, TMEM165, TMEM216, TMEM231, TMEM237, TMEM38B, TMEM67, TNFRSF11A, TNFRSF11B, TNFSF11, TNXB, TOPORS, TP63, TRAPPC2, TREM2, TRIM32, TRIP11, TRMT10A, TRPS1, TRPV4, TRPV6, TSC1, TSC2, TTC21B, TTC8, TULP1, TWIST1, TWIST2, TYROBP, UMOD, USH1C, USH1G, USH2A, USP9X, VAC14, VDR, VHL, WDPCP, WDR19, WDR34, WDR35, WDR60, WHRN, WNT1, WNT10B, WNT3, WNT5A, WNT7A, XPNPEP3, XRCC4, XYLT1, XYLT2, YY1, ZBTB16, ZIC1, ZIC3, ZMPSTE24, ZNF423

Encefalocele

74 genes

AHI1, AIPL1, ALX3, ALX4, ARHGAP31, ARL13B, B4GAT1, B9D1, B9D2, CC2D2A, CEP104, CEP120, CEP290, CEP41, COL18A1, CPLANE1, CRB1, CRPPA, CRX, CSPP1, CYP26B1, ESCO2, FGFR1, FGFR3, FKTN, FLNB, FRAS1, FREM2, GDF6, GRIP1, GUCY2D, HYLS1, IFT140, IMPDH1, INPP5E, IQCB1, KCNJ13, KIAA0556, KIAA0586, LAMB1, LCA5, LRAT, MKS1, MSX2, NMNAT1, NPHP1, OFD1, PCYT1A, POMT1, POMT2, RD3, RDH12, RPE65, RPGRIP1, RPGRIP1L, SPATA7, TCOF1, TCTN1, TCTN2, TCTN3, TGIF1, TMEM107, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TMTC3, TULP1, VSX1, WDPCP, WDR63, ZNF423, ZSWIM6

Esclerosis Tuberosa

2 genes

TSC1, TSC2

Fibromatosis hialina juvenil

1 genes

ANTXR2

Genes nucleares de enfermedades de origen mitocondrial

305 genes

AARS2, AASS, ABAT, ABCB7, ABCD1, ACACA, ACAD8, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACO2, AFG3L2, AGK, AIFM1, AK2, ALAS2, ALDH2, ALDH4A1, ALDH6A1, AMACR, AMT, APTX, ASS1, ATP5F1A, ATP5F1E, ATP7B, ATPAF2, AUH, BCKDHA, BCKDHB, BCS1L, BOLA3, C12ORF65, CARS2, CHCHD10, CISD2, CLPP, COA5, COA6, COA8, COQ2, COQ4, COQ6, COQ8A, COQ8B, COQ9, COX10, COX14, COX15, COX20, COX4I1, COX4I2, COX6B1, COX7B, CPOX, CPS1, CPT1A, CPT2, CYC1, CYCS, CYP27A1, D2HGDH, DARS2, DBT, DGUOK, DHODH, DIABLO, DLAT, DLD, DMGDH, DNA2, DNAJC19, DNM1L, EARS2, ELAC2, ETFA, ETFB, ETFDH, ETHE1, FARS2, FASTKD2, FBP1, FBXL4, FH, FLAD1, FOXRED1, FXN, G6PC, GAMT, GARS1, GATM, GCDH, GCK, GCSH, GDAP1, GFER, GFM1, GFM2, GK, GLDC, GLRX5, GLUD1, GTPBP3, GYS1, GYS2, HADH, HADHA, HADHB, HARS2, HCCS, HIBCH, HK1, HLCS, HMGCL, HMGCS2, HOGA1, HSD17B10, HSPD1, HTRA2, IARS2, IBA57, IDH2, IDH3B, IMMT, ISCU, IVD, KARS1, KIF1B, L2HGDH, LARS1, LARS2, LIAS, LRPPRC, LYRM4, LYRM7, MAOA, MARS2, MCCC1, MCCC2, MCEE, MFN2, MGME1, MICU1, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MMUT, MPC1, MPV17, MRPL3, MRPL44, MRPS16, MRPS22, MTFMT, MTO1, MTPAP, MTRR, NAGS, NARS2, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA13, NDUFA2, NDUFA7, NDUFA8, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF7, NDUFB3, NDUFB6, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS5, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NDUFV3, NFU1, NUBPL, OAT, OGDH, OGG1, OPA1, OPA3, OTC, OXCT1, PANK2, PC, PCCA, PCCB, PCK2, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PDX1, PET100, PGAM2, PINK1, PNKD, PNPT1, POLG, POLG2, PPARGC1A, PPOX, PREPL, PRKN, PUS1, RARS2, REEP1, RMND1, RRM2B, RYR1, SACS, SARDH, SARS2, SCO1, SCO2, SDHA, SDHAF1, SDHAF2, SDHB, SDHC, SDHD, SERAC1, SFXN4, SIRT1, SLC19A2, SLC19A3, SLC22A5, SLC25A1, SLC25A12, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A3, SLC25A38, SLC25A4, SLC37A4, SLC3A1, SLC6A8, SOD1, SOD2, SPAST, SPG7, STAR, SUCLA2, SUCLG1, SUGCT, SUOX, SURF1, TACO1, TARS2, TAZ, TFAM, TFB1M, TIMM44, TIMM8A, TK2, TMEM126A, TMEM70, TP53, TPK1, TRMT5, TRMU, TSFM, TTC19, TUFM, TWNK, TXN2, TYMP, UCP1, UCP2, UCP3, UNG, UQCC2, UQCRB, UQCRC2, UQCRQ, VARS2, WFS1, XPNPEP3, YARS2

Heterotaxia

35 genes

ACVR2B, ANKS3, ARMC4, CCDC151, CFAP53, CFC1, CRELD1, DNAH11, DNAH5, DNAH6, EVC2, GALNT11, GATA6, GDF1, GJA1, KDM3B, MED13L, MEGF8, MMP21, MNS1, NAA15, NEK10, NEK2, NEK8, NODAL, NOTCH1, NUP188, PKD1L1, RIPPLY2, ROCK2, RPSA, SHROOM3, SMAD2, TGFBR2, ZIC3

Holoprosencefalia

21 genes

CDON, CILK1, DHCR7, DISP1, DLL1, FGF8, FGFR1, FOXH1, GAS1, GLI2, GLI3, NODAL, NOG, PRRX1, PTCH1, SHH, SIX3, STIL, TDGF1, TGIF1, ZIC2

Linfedema

51 genes

ABCC9, ACVRL1, ADAMTS3, ALG8, BMPR2, BRAF, CAV1, CBL, CCBE1, CCM2, CDK5, EIF2AK4, ELMO2, ENG, FAT4, FLT4, FOXC2, FOXF1, GATA2, GDF2, GJA1, GJC2, GLA, GLMN, HGF, HRAS, IKBKG, ITGA9, KCNK3, KIF11, KIF7, KRAS, KRIT1, MAP2K1, MET, MPI, NAGA, NRAS, PDCD10, PIEZO1, PTEN, PTPN11, PTPN14, RAF1, RASA1, SMAD4, SMAD9, SOS1, SOX18, TEK, VEGFC

Macrocefalia

39 genes

AKT1, AKT3, APC2, ASPA, BRWD3, CCND2, CDKN1C, CHD8, CUL4B, DHCR24, DIS3L2, DNMT3A, EIF2B5, EZH2, FGFR3, GFAP, GLI3, GPC3, HEPACAM, HERC1, KIF7, KPTN, MED12, MLC1, MTOR, NFIX, NSD1, OFD1, PHF6, PIK3CA, PIK3R2, PTCH1, PTEN, RAB39B, RNF135, SETD2, SPRED1, TBC1D7, UPF3B

Malformaciones vasculares y sobrecrecimiento somático

43 genes

ACVRL1, AKT1, AKT3, BMPR2, CAMTA1, CAV1, CCBE1, CCM2, CCM2 , ELMO2, ENG, EPHB4, FLT4, FOS, FOSB, FOXC2, GATA2, GDF2, GJC2, GLMN, GNA11, GNA14, GNAQ, IDH1, IDH2, KCNK3, KIF11, KRIT1, MAP2K1, MAP3K3, MYC , PDCD10, PIK3CA, PIK3R2, PTEN, PTPN14, RASA1, SMAD4, SOX18, STAMBP, TEK, TFE3, VEGFC

Microcefalia

139 genes

AKT3, ANKLE2, AP4M1, ARFGEF2, ASPM, ATR, ATRIP, ATRX, AUTS2, BRCA2, BUB1B, CASK, CDC6, CDK5RAP2, CDK6, CDKL5, CDT1, CENPE, CENPF, CENPJ, CEP135, CEP152, CEP63, CHMP1A, CIT, CKAP2L, CRIPT, CTNNB1, DDX11, DEAF1, DHCR7, DIAPH1, DNA2, DNM1L, DONSON, DYNC1H1, DYRK1A, EFTUD2, EIF2S3, EOMES, ERCC4, ERCC5, ERCC6, EXOSC3, FANCA, FANCC, FANCD2, FANCE, FANCI, FOXG1, GMNN, HDAC8, IER3IP1, IGF1, IGF1R, KAT6A, KATNB1, KIF11, KIF14, KIF2A, KIF5C, KIFBP, KNL1, LIG4, MBD5, MCPH1, MECP2, MED17, MFSD2A, MRE11, MSMO1, MYCN, NBN, NDE1, NHEJ1, NIN, NIPBL, ORC1, ORC4, ORC6, PAFAH1B1, PALB2, PAX6, PCNT, PHC1, PHGDH, PLEKHG2, PLK4, PNKP, POMT1, POMT2, PPP1R15B, PQBP1, PYCR2, QARS1, RAB18, RAB3GAP1, RAB3GAP2, RAD21, RARS2, RBBP8, RPL10, RTTN, SASS6, SEPSECS, SLC1A4, SLC25A19, SLC2A1, SLC9A6, SLX4, SMC1A, SMC3, SPATA5, STAMBP, STIL, TAF13, TCF4, TRAIP, TRAPPC9, TRMT10A, TSEN2, TSEN34, TSEN54, TUBA1A, TUBB, TUBB2B, TUBB3, TUBG1, TUBGCP4, TUBGCP6, UBE3A, VPS13B, VRK1, WDR62, WDR73, WWOX, XRCC4, ZEB2, ZNF335

Osteocondromatosis múltiple

2 genes

EXT1, EXT2

Osteogénesis Imperfecta

18 genes

BMP1, COL1A1, COL1A2, CREB3L1, CRTAP, FKBP10, IFITM5, MBTPS2, P3H1, PLOD2, PPIB, SERPINF1, SERPINH1, SP7, SPARC, TENT5A, TMEM38B, WNT1

Progeria y síndromes progeroides

17 genes

ALDH18A1, B4GALT7, BANF1, BLM, ERCC2, ERCC4, ERCC5, ERCC6, ERCC8, LMNA, NAT10, POLD1, PYCR1, RECQL4, SLC25A24, WRN, ZMPSTE24

Psoriasis pustulosa

6 genes

CARD14, IL17A, IL1B, IL1RN, IL36RN, PI3

Sindrome 3M

4 genes

CCDC8, CUL7, OBSL1, TRIM37

Síndrome 4H (Hipomielinización central, hipogonadismo hipogonadotrófico e hipodontia)

5 genes

POLR1A, POLR1C, POLR3A, POLR3B, POLR3K

Síndrome ARC

2 genes

VIPAS39, VPS33B

Síndrome CHARGE

2 genes

CHD7, SEMA3E

Síndrome FG

7 genes

ATRX, CASK, FLNA, FMR1, MECP2, MED12, UPF3B

Síndrome de Adams-Oliver

8 genes

ARHGAP31, DLL4, DOCK6, EOGT, KCTD1, NOTCH1, RBPJ, UBR1

Síndrome de Aicardi-Goutières

7 genes

ADAR, IFIH1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, TREX1

Síndrome de Alagille

2 genes

JAG1, NOTCH2

Síndrome de Bardet-Biedl y otras ciliopatías

56 genes

ADIPOR1, AHI1, ALMS1, ARL13B, ARL6, B9D1, B9D2, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, C8ORF37, CC2D2A, CEP164, CEP290, CEP41, CPLANE1, DYNC2H1, GLIS2, IFT140, IFT172, IFT27, IFT80, INPP5E, INVS, IQCB1, KIF7, LZTFL1, MKKS, MKS1, NPHP1, NPHP3, NPHP4, OFD1, RPGRIP1L, SDCCAG8, SLC41A1, TCTN1, TCTN2, TMEM138, TMEM216, TMEM237, TMEM67, TRAF3IP1, TRIM32, TTC21B, TTC8, WDPCP, WDR19, XPNPEP3, ZNF423

Síndrome de CACH (ataxia infantil con hipomielinización del sistema nervioso central)

5 genes

EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5

Síndrome de Cohen

42 genes

ALMS1, ACD, ARL6, BAZ1B, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, C8orf37, CCDC28B, CEP290, CLIP2, ELN, GPC3, GTF2I, GTF2IRD1, IFT27, IFT74, INPP5E, LIMK1, LYST, LZTFL1, MKKS, MKS1, NDN, RFC2, SDCCAG8, SNRPN, TBL2, TERT, TMEM67, TRIM32, TTC8, UBE3A, VEGFA, VPS13B, WDPCP

Síndrome de Cornelia de Lange

20 genes

AFF4, ANKRD11, ARID1B, CHRD, CTCF, EP300, ESCO2, HDAC8, KMT2A, MYC, NAALADL2, NIPBL, PAPPA, PDS5B, RAD21, SHOX2, SMC1A, SMC3, TAF6, TNKS

Síndrome de Ehlers-Danlos

20 genes

ADAMTS2, AEBP1, B3GALT6, B4GALT7, C1R, C1S, CHST14, COL12A1, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, DSE, FKBP14, PLOD1, PRDM5, SLC39A13, TNXB, ZNF469

Síndrome de Floating-Harbour

7 genes

CCDC8, CREBBP, CUL7, EP300, FOXP2, OBSL1, SRCAP

Síndrome de Joubert

46 genes

AHI1, ARL13B, ARL3, ARMC9, ATF4, B9D1, B9D2, C2CD3, CC2D2A, CEP104, CEP120, CEP164, CEP290, CEP41, CFAP410, CPLANE1, CSPP1, HYLS1, IFT172, INPP5E, KIAA0556, KIAA0586, KIAA0753, KIF14, KIF7, LCA5, MKS1, NPHP1, NPHP3, OFD1, PDE6D, PIBF1, POC1B, RPGRIP1L, SUFU, TCTN1, TCTN2, TCTN3, TMEM107, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TTC21B, ZNF423

Síndrome de Kabuki

20 genes

CHD7, COLEC10, EYA1, FLNB, FLRT3, HNRNPK, IRF6, KDM1A, KDM6A, KLF9, KMT2A, KMT2D, MACROD2, MAMDC2, PQBP1, RAP1A, RAP1B, SIX1, SIX5, SMC5

Síndrome de Klippel-Feil

4 genes

GDF3, GDF6, MEOX1, MYO18B

Síndrome de Loeys-Dietz

7 genes

FBN1, SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2

Síndrome de Marfan

2 genes

FBN1, TGFBR2

Síndrome de Meckel

13 genes

B9D1, B9D2, CC2D2A, CEP290, KIF14, MKS1, NPHP3, RPGRIP1L, TCTN2, TMEM107, TMEM216, TMEM231, TMEM67

Síndrome de Noonan

37 genes

A2ML1, ACTB, ACTG1, BRAF, CBL, CCNK, CDC42, EPHB4, FGD1, HRAS, KAT6B, KRAS, LZTR1, MAP2K1, MAP2K2, MAP3K8, MRAS, NF1, NF2, NRAS, NSUN2, PPP1CB, PTPN11, RAF1, RASA1, RASA2, RIT1, RRAS, SASH1, SHOC2, SMARCB1, SOS1, SOS2, SPRED1, SPRY1, STAMBP, SYNGAP1

Síndrome de Opitz G/BBB

41 genes

AR, ARX, ATRX, B3GLCT, BCOR, BMP4, CDKN1C, CHD7, CREBBP, CYP11A1, DHCR7, DNMT3B, EFNB1, ESCO2, FGFR1, FGFR2, FGFR3, FIG4, FLNA, FRAS1, FREM2, GLI3, GRIP1, HCCS, HOXA13, HSD3B2, IRF6, MAP3K1, MED12, MID1, MKKS, NR5A1, PTPN11, SALL1, SETBP1, SPECC1L, SRD5A2, UBR1, WNT7A, WT1, ZEB2

Síndrome de Pendred

6 genes

FOXI1, KCNJ10, SLC26A3, SLC26A4, SLC5A5, TPO

Síndrome de Sotos

14 genes

APC2, EED, EZH2, GPC3, GPC4, H1-4, NFIX, NSD1, PTCH1, PTEN, SETD2, SUFU, SUZ12, TCF20

Síndrome de Sphrintzen-Goldberg

8 genes

FBN1, KIFBP, SKI, SMAD2, SMAD3, TGFB2, TGFBR1, TGFBR2

Síndrome de Stickler

6 genes

COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3

Síndrome de Treacher-Collins

6 genes

DHODH, EFTUD2, POLR1C, POLR1D, SF3B4, TCOF1

Síndrome de Usher

17 genes

ABHD12, ADGRV1, CDH23, CEP250, CIB2, CLRN1, HARS1, MYO7A, PCARE, PCDH15, PDZD7, PEX6, RPGR, USH1C, USH1G, USH2A, WHRN

Síndrome de Van der Woude

2 genes

GRHL3, IRF6

Síndrome de Waardenburg

7 genes

EDN3, EDNRB, KIT, MITF, PAX3, SNAI2, SOX10

Síndromes de Coffin-Siris y Nicolaides-Baraitser

9 genes

ARID1A, ARID1B, ARID2, PHF6, SMARCA2, SMARCA4, SMARCB1, SMARCE1, SOX11

Telangiectasia hemorrágica hereditaria

5 genes

ACVRL1, ENG, EPHB4, GDF2, SMAD4

Xerodermia pigmentosa

22 genes

ADAR, C8A, DDB1, DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, FUBP1, GORAB, GTF2E2, GTF2H5, MPLKIP, MRE11, POLH, RNF113A, UVSSA, XPA, XPC

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