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Danh sách các bệnh/hội chứng và panel gen tương ứng

Danh sách các bệnh

STT Bệnh/Hội chứng Condition/Syndrome Gen
Chuyển hóa
1 Hội chứng Aicardi–Goutières Aicardi–Goutières syndrome ADAR, IFIH1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, TREX1
2 Loạn dưỡng mỡ bẩm sinh gia đình Congenital and familial lipodystrophy AGPAT2, AKT2, BSCL2, CAV1, LMNA, PLIN1, PPARG, PTRF, TBC1D4, ZMPSTE24
3 Rối loạn glycosyl hoá bẩm sinh Congenital disorders of glycosylation ALG1*, ALG2, ALG3, ALG6, ALG8, ALG9, ALG12, ALG13, ATP6V0A2, B4GALT1, COG1, COG4, COG5, COG6, COG7, COG8, DDOST, DHDDS, DOLK, DPAGT1, DPM1, DPM2, DPM3, GNE, MAGT1, MAN1B1, MGAT2, MOGS, MPDU1, MPI, NGLY1, PGM1, PMM2, RFT1, SEC23B, SLC35A1, SLC35C1, SRD5A3*, STT3A, STT3B, TMEM165, TUSC3
4 Rối loạn Mono- và Disaccharide bẩm sinh Congenital Mono- and Disaccharide disorders ALDOB, GALE, GALK1, GALT, LCT, SI, SLC2A1, SLC2A2, SLC5A1
5 Thiếu chuyển hoá creatine Creatine metabolism deficiency GAMT, GATM, SLC6A8*
6 Cystine niệu Cystinuria SLC3A1, SLC7A9
7 Hội chứng oxy hoá axit béo Fatty acid oxidation syndrome ACAD8, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ALDH5A1, CPT1A, CPT2, ETFA, ETFB, ETFDH, HADH, HADHA, HADHB, HMGCL, HMGCS2, HSD17B10, LPIN1, PPARG, SLC22A5, SLC25A20, TAZ
8 Rối loạn dự trữ glycogen Glycogen storage disorder AGL, ALDOA, EPM2A, FBP1, G6PC, GAA, GBE1, GYG1, GYS1, GYS2, LAMP2, LDHA, NHLRC1, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKA2, PHKB, PHKG2, PRKAG3, PYGL, PYGM, SLC2A2, SLC37A4
9 Ứ sắt di truyền Hereditary hemochromatosis HAMP, HFE, HFE2, SLC40A1, TFR2
10 Homocystine niệu Homocystinuria CBS, MTHFR, MTR, MTRR
11 Tăng ammoniac và rối loạn chuyển hoá ure Hyperammonemia and urea cycle disorder ACADM, ACADS, ACADVL, ARG1, ASL, ASS1, BCKDHA, BCKDHB, CPS1, CPT1A, CPT2, DBT, DLD, ETFA, ETFB, ETFDH, GLUL, HADHA, HADHB, HCFC1, HLCS, HMGCL, HMGCS2, IVD, MCCC1, MCCC2, MMAA, MMAB, MMACHC, MMADHC, MUT, NAGS, NBAS, OAT, OTC, PC, PCCA, PCCB, SLC7A7, SLC22A5, SLC25A13, SLC25A15*, SLC25A20, SUCLA2, SUCLG1, TMEM70, UMPS
12 Tăng phenylalanine Hyperphenylalaninemia GCH1, PAH, PCBD1, PTS, QDPR
13 Rối loạn lysosome và mucopolysachcharidosis Lysosomal disorders and mucopolysaccharidosis ABCC8, ACY1, ADSL, AGA, ALDH5A1, ALDH7A1, AMT, ANTXR2, ARG1, ARSA, ARSB, ASAH1, ASPA, ATP13A2, BTD, CLN3, CLN5, CLN6, CLN8, COL2A1, COL11A2, CTNS, CTSA, CTSC, CTSD, CTSK, DHCR7, DPYD, DYM, ETFA, ETFB, ETFDH, FH, FOLR1, FUCA1, GAA, GALC, GALNS, GAMT, GBA*, GCDH, GLA, GLB1, GLDC, GM2A, GNE, GNPTAB, GNPTG, GNS, GPC3, GUSB*, HEXA, HEXB, HGSNAT, HRAS, HYAL1, IDS*, IDUA, L2HGDH, LAMA2, LAMP2, LDB3, LIPA, MAN1B1, MAN2B1, MANBA, MCOLN1, MFSD8, MOCS1*, MOCS2, MYOT, NAGA, NAGLU, NPC1, NPC2, PEX1, PEX3, PEX5, PEX6, PEX10, PEX12, PEX13, PEX16, PEX26, PGK1, PHYH, PPT1*, PRODH*, PSAP, QDPR, RAI1, SGSH, SLC17A5, SLC25A15*, SLC46A1, SMPD1, SUMF1, SUOX, TCF4, TPP1
14 Suy chuyển hoá gan Metabolic liver failure ALDOB, ATP7B, FAH, GALE, GALK1, GALT, LIPA, MPI, NPC1, NPC2, PHKA2, PHKB, PHKG2, PYGL, SERPINA1, SMPD1
15 Bệnh chuyển hoá và li giải cơ Metabolic myopathy and rhabdomyolysis ACAD9, ACADL, ACADM, ACADVL, ADCK3, AGL, AHCY, ALDOA, AMPD1, ANO5, CAV3, COQ2, CPT2, DYSF, ETFA, ETFB, ETFDH, FKRP, FKTN, GAA, GBE1, GYG1, GYS1, HADHA, HADHB, ISCU, LDHA, LPIN1, MYH3, OPA1, OPA3, PFKM, PGAM2, PGK1, PGM1, PHKA1, POLG, POLG2, PYGM, RRM2B, RYR1, SCN4A, SLC22A5, SLC25A20, SUCLA2, TK2, TYMP
16 Hội chứng tiêu ADN ty thể Mitochondrial DNA depletion syndrome AGK*, APTX, AUH, DGUOK, MFN2, MPV17, NDUFS1, OPA1, OPA3, POLG, POLG2, RRM2B, SLC25A3, SLC25A4, SPG7, SUCLA2, SUCLG1, TIMM8A*, TK2, TMEM126A, TYMP, WFS1
17 Rối loạn peroxisome Peroxisomal disorders ABCD1*, ABCD3, ACOX1, AGPS, AGXT, AMACR, DYM, EBP, GNPAT, HSD17B4, PEX1, PEX2, PEX3, PEX5, PEX6, PEX7, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX26, PHYH, TRIM37
18 Rối loạn chuyển hoá porphyrin Porphyria ALAD, ALAS2, CPOX, FECH, HFE, HMBS, PPOX, UROD, UROS
Da liễu
19 Hội chứng Adams-Oliver Adams-Oliver syndrome ARHGAP31, DOCK6, KCTD1*, NOTCH1, RBPJ*, UBR1
20 Bạch tạng Albinism AP3B1, BLOC1S6, DTNBP1, GPR143, HPS1*, HPS3*, HPS4, HPS5, HPS6, LYST*, MC1R, MITF, MLPH, MYO5A, OCA2, RAB27A, SLC24A5, SLC45A2, TYR*, TYRP1
21 Nhão da Cutis laxa ALDH18A1, ATP6V0A2, ATP7A, EFEMP2, ELN, FBLN5, GORAB, LTBP4, PYCR1, SLC2A10
22 Loạn sừng bẩm sinh Dyskeratosis congenita ALDH18A1, ATP6V0A2, ATP7A, EFEMP2, ELN, FBLN5, GORAB, LTBP4, PYCR1, SLC2A10
23 Loạn sản ngoại bì Ectodermal dysplasia BCS1L, CDH3, DSP, EDA, EDAR, EDARADD, ERCC2, EVC, EVC2, GJB2, GJB6, HOXC13, HR, IFT122*, JUP, LRP6, MPLKIP, PORCN, TP63, WDR35, WNT10A
24 Hội chứng Ehlers-Danlos Ehlers-Danlos syndrome ABCC6*, ADAMTS2, ALDH18A1, ATP6V0A2, ATP7A, B4GALT7, BGN, CBS, CHST14, COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, COL11A1, EFEMP2, ELN, FBLN5, FBN1, FBN2, FKBP14, FLNA, PLOD1, PYCR1, SLC39A13, SMAD3, TGFB2, TGFBR1, TGFBR2, ZNF469
25 Bong biểu bì bóng nước Epidermolysis bullosa ATP2C1, COL7A1, COL17A1, DSG1, DSG2, DSG4, DSP, DST, EXPH5, FERMT1, GRIP1, ITGA3, ITGA6, ITGB4, KRT1, KRT5, KRT14*, LAMA3, LAMB3, LAMC2, PKP1, PLEC, TGM5
26 Viêm da đầu chi - bệnh ruột di truyền Hereditary acrodermatitis enteropathica SLC39A4
27 Hội chứng Hermansky–Pudlak Hermansky-Pudlak syndrome ABCA3, AP3B1, AP3D1, BLOC1S6, DKC1, DTNBP1, GPR143, HPS1*, HPS3*, HPS4, HPS5, HPS6, LYST*, OCA2, SFTPB, SFTPC, SLC45A2, TERC, TERT, TINF2, TYR*, TYRP1
28 Vảy cá Ichthyosis ABCA12, ABHD5, ALDH3A2, ALOX12B, ALOXE3, CYP4F22, EBP, ERCC2, FLG*, GJB2, GJB3, GJB4, KRT1, KRT2, KRT10, LOR, MBTPS2, MPLKIP, NIPAL4, PEX7, PHYH, PNPLA1, SLC27A4, SPINK5, STS, SUMF1, TGM1
29 U xơ thần kinh Neurofibromatosis KIT, KITLG, NF1*, NF2, PTPN11, RAF1, SMARCB1, SPRED1, LZTR1
30 Dày móng bẩm sinh Pachyonychia congenita AAGAB, KRT6A*, KRT16*, KRT17*, TRPV3
31 Dày sừng lòng bàn tay, bàn chân Palmoplantar keratoderma AAGAB, AQP5, CTSC, DSC2, DSG1, DSP, ENPP1, GJA1, GJB2, GJB4, GJB6, JUP, KANK2, KRT1, KRT6A*, KRT14*, KRT16*, KRT17*, LOR, MBTPS2, PKP1, SLURP1, TRPV3, WNT10A
32 Hội chứng lão hóa sớm Progeria and progeroid syndrome AGPAT2, ALDH18A1, B4GALT7, BLM, BSCL2, COL3A1, ERCC2, ERCC4, ERCC5, ERCC6*, ERCC8, GORAB, LMNA, PYCR1, RECQL4, WRN*, ZMPSTE24
Hô hấp
33 Giãn phế quản Bronchiectasis CCDC39, CCDC40, CFTR, DNAAF1, DNAAF2, DNAH5, DNAH11*, DNAI1, DNAI2, DNAL1, NME8, RSPH4A, RSPH9, SCNN1A, SCNN1B
34 Giảm thông khí trung ương và ngưng thở Central hypoventilation and apnea CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, COLQ, EDN3, GLRA1, MECP2, PHOX2B, RAPSN, RET, SCN4A, SLC6A5, ZEB2*
35 Xơ nang Cystic fibrosis CFTR
36 Bệnh phổi mô kẽ Cystic lung disease ABCA3, CSF2RA*, CSF2RB, DKC1, ELMOD2, HPS1*, HPS4, ITGA3, NF1*, NKX2-1, SFTPA1, SFTPA2, SFTPB, SFTPC, SLC7A7, SLC34A2, SMPD1, STAT3, TERC, TERT, TINF2, TSC1, TSC2
37 Suy hô hấp sơ sinh - rối loạn chức năng surfactant Neonatal respiratory distress – surfactant dysfunction ABCA3, FOXF1, NKX2-1, SFTPB, SFTPC
38 Bất động lông chuyển nguyên phát Primary ciliary dyskinesia CCDC39, CCDC40, CCDC103, CFTR, DNAAF1, DNAAF2, DNAAF3, DNAH5, DNAH11*, DNAI1, DNAI2, DNAL1, DYX1C1, INVS, LRRC6, NME8, OFD1, RPGR, RSPH4A, RSPH9
39 Tăng áp động mạch phổi Pulmonary artery hypertension ACVRL1, BMPR2, CAV1, ENG, FOXF1, KCNA5, KCNK3, NFU1, SMAD4, TBX4
Huyết học
40 Thiếu máu Anemia ABCB7, ADAMTS13, ALAS2, AMN, ANK1, ATM, ATR, ATRX, BLM, BRCA2, BRIP1, CDAN1, CLCN7, CUBN*, CYB5R3, EPB42, ERCC4, FANCA, FANCB, FANCC, FANCD2*, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, G6PD, GATA1, GPI, GSS, HBB, HFE, KLF1, LPIN2, MTR, NBN, NT5C3A, PALB2, PC, PDHA1, PDHX, PKLR, PUS1, RAD51C, REN, RHAG, RPL5, RPL11, RPL35A, RPS19, RPS24, RPS26, SEC23B, SLC4A1, SLC19A2, SLC25A38, SLX4, SPTA1, SPTB, TCN2, TF, THBD, TMPRSS6, XRCC2, YARS2
41 Rối loạn đông/cầm máu Bleeding disorder/coagulopathy SLC3ABCG5, ABCG8, ADAMTS13, ANKRD26, AP3B1, BLOC1S6, DTNBP1, ETV6, F2, F5, F7, F8*, F9, F10, F11, F12, F13A1, FGA, FGB, FGG, FLI1, FLNA, GATA1, GFI1B, GGCX, GP1BA, GP9, HOXA11, HPS1*, HPS3*, HPS4, HPS5, HPS6, ITGA2, ITGA2B, ITGB3, LMAN1, MASTL, MCFD2, MECOM, MPL, MYH9, NBEAL2, P2RY12, PROC, PROS1*, RUNX1, SERPINC1, SRC, TBXA2R, THBD, THPO, TUBB1, VKORC1, VWF*, WAS, WIPF19A4
42 Hội chứng Bloom Bloom syndrome BLM
43 Suy tuỷ xương Bone marrow failure syndrome ACTB*, AK2, ANKRD26, AP3B1, ATM, ATR, BLM, BLOC1S6, BRAF*, BRCA1*, BRCA2, BRIP1, CBL, CDKN2A, CEBPA, CSF2RA*, CSF3R, CTC1, CTSC, CXCR4, DKC1, DTNBP1, ELANE, EPCAM, ERCC4, ETV6, FADD, FANCA, FANCB, FANCC, FANCD2*, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FAS, FASLG, G6PC3, GATA1, GATA2, GFI1, HAX1, HPS1*, HPS3* ,HPS4 ,HPS5, HPS6, HRAS, IFNGR2, ITK, KRAS*, LAMTOR2, LYST*, MAGT1, MAP2K1, MAP2K2, MKL1, MLH1, MPL, MSH2, MSH6, MYO5A, NBN, NF1*, NOP10, NRAS, PALB2, PAX5, PMS2*, PRF1, PTPN11, RAB27A, RAC2, RAD51C, RECQL4, RPL5, RPL11, RPL35A, RPS19, RPS24, RPS26, RUNX1, SAMD9, SH2D1A, SLC37A4, SLX4, SOS1, SRP72*, STX11, STXBP2, TERC, TERT, THPO, TINF2, TP53, UNC13D, USB1, VPS13B, WAS, WIPF1, WRAP53, XIAP*, XRCC2
44 Thiếu yếu tố đông máu Coagulation factor deficiency F2, F5, F7, F8*, F9, F10, F11, F12, F13A1, FGA, FGB, FGG, GGCX, LMAN1, VKORC1, VWF*
45 Giảm bạch cầu hạt bẩm sinh Congenital neutropenia ACTB*, CSF2RA*, CSF3R, CTSC, ELANE, G6PC3, GATA2, GFI1, HAX1, IFNGR2, LAM- TOR2, LYST*, MKL1, RAC2, SLC37A4, SRP72*, VPS13B, WAS
46 Thiếu máu Diamond–Blackfan Diamond-Blackfan anemia GATA1, RPL5, RPL11, RPL35A, RPS19, RPS24, RPS26
47 Thiếu máu Fanconi Fanconi anemia ATM, ATR, BLM, BRCA2, BRIP1, CXCR4, ERCC4, FANCA, FANCB, FANCC, FANCD2*, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, NBN, PALB2, RAD51C, SLX4, XRCC2
48 Ung thư bạch cầu di truyền Hereditary leukemia ANKRD26, ATM, BLM, BRAF*, BRCA1*, BRCA2, CBL, CDKN2A, CEBPA, DKC1, EPCAM, ETV6, FANCA, GATA2, HRAS, KRAS*, MAP2K1, MAP2K2, MLH1, MSH2, MSH6, NBN, NF1*, NRAS, PAX5, PMS2*, PTPN11, RUNX1, SOS1, SRP72*, TERC, TERT, TINF2, TP53
49 Rối loạn chức năng tiểu cầu Platelet function disorder AP3B1, BLOC1S6, DTNBP1, GP1BA, GP9, HPS1*, HPS3*, HPS4, HPS5, HPS6, ITGA2B, ITGB3, NBEAL2, P2RY12, RUNX1, TBXA2R, THPO, WIPF1
50 Rối loạn màng hồng cầu Red blood cell membrane disorder ANK1, EPB41, EPB42, RHAG, SLC4A1, SPTA1, SPTB
51 Giảm tiểu cầu Thrombocytopenia ABCG5, ABCG8, ADAMTS13, ANKRD26, ETV6, FLI1, FLNA, GATA1, GFI1B, GP1BA, GP9, HOXA11, ITGA2, ITGA2B, ITGB3, MASTL, MECOM, MPL, MYH9, NBEAL2, RUNX1, SRC, THBD, TUBB1, WAS, WIPF1
52 Bất thường hệ bạch huyết Lymphatic malformations and related disorders CCBE1, FLT4, FOXC2, GATA2, GJC2, KIF11, PIK3CA*, RASA1, SOX18
Mắt
53 Mù màu Achromatopsia ATF6, CNGA3, CNGB3, GNAT2, PDE6C, PDE6H, RGS9, RGS9BP
54 Đục thuỷ tinh thể Cataract ABCB6, ADAMTS18, ADAMTSL4, AGK*, ALDH18A1, BCOR, BFSP1, BFSP2, CHMP4B, COL2A1, COL4A1, COL11A1, COL18A1, CRYAA, CRYAB, CRYBA1, CRYBA4, CRYBB1, CRYBB2*, CRYBB3, CRYGC, CRYGD, CRYGS, CTDP1, CYP27A1, EPHA2, ERCC2, ERCC5, ERCC6*, ERCC8, EYA1, FAM126A, FOXE3, FYCO1, FZD4, GALE, GALK1, GALT, GCNT2, GJA3, GJA8, HSF4, LIM2, MAF, MIP, MYH9, NDP, NF2, NHS, OCRL, OPA3, PAX6, PITX3, PXDN, RAB3GAP1, RECQL4, SIL1, SLC16A12, SLC33A1*, TDRD7, TFAP2A, TMEM70, VIM, VSX2, WFS1, WRN*
55 Loạn dưỡng tế bào hình nón, hình que Cone rod dystrophy ABCA4, ADAM9, ADAMTS18, AIPL1, BEST1, C8ORF37, CABP4, CACNA1F, CACNA2D4, CDHR1, CERKL, CLN3, CNGA3, CNGB3, CNNM4, CRB1, CRX, CYP4V2, GNAT2, GUCA1A, GUCY2D, KCNV2, MERTK, PDE6C, PDE6H, PITPNM3, PRPH2, RAX2, RDH5, RGS9, RGS9BP, RIMS1, RPGR, RPGRIP1, SEMA4A
56 Mù về đêm bẩm sinh Congenital stationary night blindness CABP4, CACNA1F, CACNA2D4, CYP4V2, GNAT1, GNB3, GPR179, GRM6, LRIT3, NYX, PDE6B, RDH5, RHO, RLBP1, RPE65, SAG, SLC24A1, TRPM1
57 Loạn dưỡng giác mạc Corneal dystrophy CHRDL1, CHST6, COL5A1, COL8A2, COL17A1, CYP4V2, DCN, FOXE3, GJA8, GSN, KERA, KRT3, KRT12, LCAT, LOXHD1, MAF, PIKFYVE, PITX2, PRDM5, SLC4A11, TACSTD2, TCF4, TGFBI, UBIAD1, ZEB1, ZNF469
58 Lạc vị thuỷ tinh thể Ectopia lentis AASS, ADAMTS10, ADAMTS17, ADAMTSL4, BCOR, CBS, COL18A1, FBN1, LTBP2, PORCN, SUOX, VSX2
59 Võng mạc lốm đốm Flecked retina disorders ABCA4, CHM, CYP4V2, ELOVL4, PLA2G5, PRPH2, RDH5, RHO, RLBP1, RS1, VPS13B
60 Chứng mù bẩm sinh Leber Leber congenital amaurosis AIPL1, ALMS1*, BBS4, CABP4, CEP290*, CNGA3, CRB1, CRX, GUCY2D, IMPDH1, IQCB1, KCNJ13, LCA5, LRAT, MERTK, MYO7A, NMNAT1, RD3, RDH5, RDH12, RPE65, RPGRIP1, SPATA7, TULP1
61 Loạn dưỡng điểm vàng Retinal dystrophy CIB2, CLRN1, DFNB31, HARS*, MABCA4, BEST1, CDH3, CERKL, CNGB3, CRB1, CRX, EFEMP1, ELOVL4, IMPG2, MFSD8, PRPH2, RAX2, RDH5, RDH12, RLBP1, RP1L1, RPGR, RS1, TIMP3YO7A, PCDH15, PDZD7, PEX1, USH1C, USH1G, USH2A
62 Tật mắt nhỏ, tật không nhãn cầu Microphthalmia, anophthalmia and anterior segment dysgenesis ABCB6, ADAMTS18, BCOR, BMP4, BMP7, CHD7, COL4A1, COX7B, CYP1B1, ERCC2, ERCC5, ERCC6*, FOXC1, FOXE3, FOXL2, FRAS1, FREM1, FREM2, GRIP1, HCCS, HESX1, HMX1, MFRP, MITF, NAA10, NDP, OCRL, OTX2, PAX2, PAX6, PITX2, PQBP1, PRSS56, PXDN, RAB3GAP1, RAX, RBP4, SHH, SIX3, SIX6, SMCHD1, SMOC1, SOX2*, STRA6, TFAP2A, VPS13B, VSX2, ZIC2
63 Bệnh lý thần kinh thị giác Neuro-ophthalmology ACO2, ANTXR1, APTX, CHN1, CISD2*, FRMD7, GPR143, HESX1, KIF21A, MFN2, NDUFS1, NR2F1, OPA1, OPA3, OTX2, PAX6, PHOX2A, POLG, PRPS1*, ROBO3, RRM2B, SALL4, SETX, SLC25A4, SOX2*, SPG7, TIMM8A*, TK2, TMEM126A, TUBB3*, TYMP, WFS1
64 Teo gai thị Optic atrophy ACO2, CISD2*, MFN2, NDUFS1, NR2F1, OPA1, OPA3, POLG, PRPS1*, SLC52A2, SNX10, SPG7, TIMM8A*, TMEM126A, WFS1
65 Loạn dưỡng võng mạc Macular dystrophy ABCA4, ABHD12, ACO2, ADAM9, ADAMTS18, ADIPOR1*, AHI1, AIPL1, ALMS1*, ARL6, ARL13B, ATF6, ATOH7, B9D1, B9D2, BBS1, BBS2, BBS4, BBS5, BBS7, BBS9, BBS10, BBS12, BEST1, C2ORF71, C5ORF42, C8ORF37, CA4, CABP4, CACNA1F, CACNA2D4, CC2D2A, CDH3, CDH23, CDHR1, CEP41, CEP164, CEP290*, CERKL, CHM, CIB2, CISD2*, CLN3, CLRN1, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, COL2A1, COL9A1, COL9A2, COL9A3, COL11A1, COL11A2, COL18A1, CRB1, CRX, CTC1, CTNNB1, CYP4V2, DFNB31, DHDDS, EFEMP1, ELOVL4, EYS*, FAM161A, FLVCR1, FRMD7, FZD4, GNAT1, GNAT2, GNB3, GNPTG, GPR179, GRM6, GUCA1A, GUCY2D, HARS*, HGSNAT, HK1, HMX1, IDH3B, IFT140, IFT172, IMPDH1, IMPG2, INPP5E, INVS, IQCB1, JAG1, KCNJ13, KCNV2, KIF7, KIF11, KLHL7, LCA5, LRAT, LRIT3, LRP2, LRP5*, LZTFL1, MAK, MERTK, MFN2, MFRP, MFSD8, MKKS, MKS1, MMACHC, MTTP, MVK, MYO7A, NDP, NMNAT1, NPHP1, NPHP3, NPHP4, NR2E3, NR2F1, NRL, NYX, OAT, OFD1, OPA1, OPA3, OTX2, PANK2, PAX2, PCDH15, PDE6A, PDE6B, PDE6C, PDE6G, PDE6H, PDZD7, PEX1, PEX2, PEX3, PEX5, PEX6, PEX7, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX26, PHYH, PITPNM3, PLA2G5, PNPLA6, PRCD, PRKCG, PRPF3, PRPF6, PRPF8, PRPF31, PRPH2, PRPS1*, RAX2, RBP3, RBP4, RD3, RDH5, RDH12, RGR, RGS9, RGS9BP, RHO, RIMS1, RLBP1, ROM1, RP1, RP1L1, RP2, RPE65, RPGR, RPGRIP1, RPGRIP1, RS1, SAG, SDCCAG8, SEMA4A, SLC24A1, SNRNP200, SPATA7, TCTN1, TCTN2, TCTN3, TEAD1, TIMM8A*, TIMP3, TMEM67, TMEM126A, TMEM138, TMEM216, TMEM231, TMEM237, TOPORS, TREX1, TRIM32, TRPM1, TSPAN12, TTC8, TTC21B, TTPA, TUB, TULP1, USH1C, USH1G, USH2A, VCAN, VPS13B, WDPCP, WDR19, WFS1, ZNF423, ZNF513
66 Viêm võng mạc sắc tố Retinitis pigmentosa EYS*, FAM161A, FLVCR1, GNPTG, GUCY2D, HGSNAT, HK1, IDH3B, IFT140, IMPDH1, IMPG2, INPP5E, KLHL7, LCA5, LRAT, MAK, MERTK, MFRP, MVK, NMNAT1, NR2E3, NRL, OAT, OFD1, PDE6A, PDE6B, PDE6G, PEX1, PEX2, PEX7, PHYH, PITPNM3, PLA2G5, PRCD, PRKCG, PRPF3, PRPF8, PRPF31, PRPH2, RBP3, RBP4, RDH5, RDH12, RGR, RHO, RIMS1, RLBP1, ROM1, RP1, RP2, RPE65, RPGR, RPGRIP1, RS1, SAG, SEMA4A, SNRNP200, SPATA7, TOPORS, TTC8, TTPA, TUB, TULP1, USH1C, USH2A, VPS13B, WDR19, ZNF513
67 Bệnh dịch kính – võng mạc Vitreoretinopathy ATOH7, BEST1, COL2A1, COL9A1, COL9A2, COL9A3, COL11A1, COL11A2, COL18A1, CTC1, CTNNB1, FZD4, KCNJ13, KIF11, LRP5*, NDP, NR2E3, RS1, TSPAN12, VCAN
68 Tăng nhãn áp Glaucoma CNTNAP2, COL4A1, CYP1B1, FOXC1, FOXE3, LMX1B, LTBP2, MAF, MYOC, OPA1, OPA3, OPTN, PAX6, PITX2, TBK1, TEK, TMEM126A, WDR36
Miễn dịch
69 Hội chứng tự viêm Autoinflammatory syndrome panel ACP5, ADAR, CARD14, DDX58, ELANE, IFIH1, IL1RN, IL36RN, LPIN2, MEFV, MVK, NLRP1, NLRP3, NLRP12, NOD2, PLCG2, PSENEN, PSMB8, PSTPIP1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SLC29A3, TMEM173, TNFRSF1A, TREX1
70 Hội chứng suy tuỷ xương Bone marrow failure syndrome WRAP53, XIAP*, XRCC2
71 U hạt mãn tính Chronic granulomatous disease CYBA, CYBB, G6PD, NCF2, NCF4, NOD2
72 Rối loạn hệ thống bổ thể Complement system disorder ADIPOQ, ADIPOR1*, C1QA, C1QB, C1QC, C1S, C2*, C3, C3AR1, C5, C5AR2, C6, C7, C8A, C8B, C9, CCDC39, CCDC40, CCDC103, CD46*, CD55, CD59, CFD, CFH*, CFI, CFP, CLU, COLEC11, CR2, CRP, DGKE, DNAAF1, DNAAF2, DNAAF3, DNAH5, DNAH11*, DNAI1, DNAI2, DNAL1, DYX1C1, FCN2, FCN3, LRRC6, MASP1, MASP2, NME8, OFD1, PIGA*, RSPH4A, RSPH9, SERPING1, THBD, VSIG4
73 Giảm bạch cầu hạt bẩm sinh Congenital neutropenia ACTB*, CSF2RA*, CSF3R, CTSC, ELANE, G6PC3, GATA2, GFI1, HAX1, IFNGR2, LAM- TOR2, LYST*, MKL1, RAC2, SLC37A4, SRP72*, VPS13B, WAS
74 Suy giảm miễn dịch nguyên phát Primary immunodeficiency ACP5, ACTB*, ADA, ADAM17, ADAR, AICDA, AIRE, AK2, AP3B1, ATM, BCL10, BLM, BLNK, BTK, C1QA, C1QB, C1QC, C1S, C2*, C3, CARD9, CARD11, CARD14, CASP8, CASP10, CD3D, CD3E, CD3G, CD8A, CD19, CD27, CD40, CD40LG, CD46*, CD55, CD59, CD79A, CD79B, CD81, CD247, CEBPE, CFD, CFH*, CFI, CFP, CFTR, CHD7, CIITA, CLCN7, COLEC11, CORO1A*, CR2, CSF2RA*, CSF2RB, CSF3R, CTC1, CTLA4, CTSC, CXCR4, CYBA, CYBB, DCLRE1C*, DDX58, DGKE, DKC1, DNMT3B, DOCK8, ELANE, EXTL3, FADD, FAS, FASLG, FERMT3, FOXN1, FOXP3, G6PC3, G6PD, GATA2, GFI1, HAX1, ICOS, IFIH1, IFNAR2, IFNGR1, IFNGR2, IGLL1*, IKBKB, IL1RN, IL2RA, IL2RG, IL7R, IL10, IL10RA, IL10RB, IL12B, IL12RB1, IL17RA, IL21R, IL36RN, IRAK4, IRF8, ITGB2, ITK, JAK3, KRAS*, LAMTOR2, LCK, LIG4, LPIN2, LRBA, LYST*, MAGT1, MALT1, MAP3K14, MASP1, MEFV, MKL1, MOGS, MRE11A, MTHFD1, MVK, MYD88, MYO5A, NBN, NCF2, NCF4, NCSTN, NFKB2, NFKBIA, NHEJ1, NLRP1, NLRP3, NLRP12, NOD2, NOP10, NRAS, OFD1, ORAI1, PEPD, PIGA*, PIK3CD* ,PIK3R1, PLCG2, PMS2*, PNP, POLE2, PRF1, PRKDC, PSENEN ,PSMB8, PSTPIP1, PTPRC, RAB27A, RAC2, RAG1, RAG2, RASGRP1, RECQL4, RFX5, RFXANK, RFXAP, RHOH, RNASEH2A, RNASEH2B, RNASEH2C, RNF168, SAMD9, SAMHD1, SERPING1, SH2D1A, SLC7A7, SLC29A3, SLC35C1, SLC37A4, SLC46A1, SMARCAL1, SP110, SPINK5, SRP72*, STAT1, STAT3, STAT5B*, STIM1 ,STK4, STX11, STXBP2, TAP2, TBX1, TCF3, TCN2, TERC, TERT, TFRC, THBD, TINF2, TMC6, TMC8, TMEM173, TNFRSF1A, TNFRSF13B, TRAF3IP2, TREX1, TYK2, UNC13D, UNC93B1*, UNC119, UNG, USB1, VPS13B, WAS, WIPF1, WRAP53, XIAP*, ZAP70, ZBTB24
Nội tiết
75 Tiểu đường đơn gen Monogenic diabetes mellitus HADH, HNF1A, HNF1B, HNF4A, INS, INSR, KCNJ11, KLF11, NEUROD1, NEUROG3, PAX4, PDX1, PPARG, PTF1A, RFX6, SLC2A2, SLC16A1, UCP2, WFS1
76 Bất thường cơ quan sinh dục Abnormal genitalia/ disorders of sex development AMH, AMHR2, AR, ARX, ATRX, BCOR, CDKN1C, CEP41, CHD7, CREBBP, CYP11A1, CYP11B1*, CYP19A1, CYP21A2*, DHCR7, DHH, DYNC2H1, ERCC3, FGF8, FGFR1, FIG4, FRAS1, GATA4, GNRHR, HSD3B2, HSD17B3, IRF6, KISS1R, LHCGR, MAMLD1, MAP3K1, MKS1, NR5A1, NR0B1, POR, PROK2, RSPO1, SOX9, SRD5A2, SRY, STAR, TACR3, WT1, ZFPM2
77 Tăng sản thượng thận bẩm sinh Congenital adrenal hyperplasia CYP11A1, CYP11B1*, CYP21A2*, HSD3B2, POR, PRKAR1A, STAR
78 Thiếu glucocorticoid Glucocorticoid deficiency MC2R, MRAP, NNT, NR3C1, POMC, STAR
79 Cường cận giáp Hyperparathyroidism AIRE, CASR, CDC73, CDKN1A, CDKN1B, CDKN2B, CDKN2C, GCM2, MEN1, PTH, RET
80 Hạ đường huyết, tăng insuline máu và chuyển hóa keton Hypoglycemia, hyperinsulinism and ketone metabolism ABCC8, ACAT1, ACSF3, AGL, ALDOA, ALDOB, EPM2A, FBP1, G6PC, GAA, GBE1, GCK, GYG1, GYS1, GYS2, HADH, HMGCL, HMGCS2, HNF1A, HNF4A, INSR, KCNJ11, LAMP2, LDHA, MPV17, NHLRC1, OXCT1, PC, PDX1, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKA2, PHKB, PHKG2, PRKAG3, PTF1A, PYGL, PYGM, SLC2A2, SLC16A1, SLC37A4, UCP2
81 Suy giáp và đề kháng hormone giáp Hypothyroidism and resistance to thyroid hormone DUOX2*, DUOXA2, FOXE1, GNAS, HESX1, IGSF1, NKX2-1, NKX2-5, PAX8, POU1F1, PROP1, SECISBP2, SLC5A5, SLC16A2, SLC26A4, TG, THRA, THRB, TPO, TSHB, TSHR
82 Hội chứng Kallmann Kallmann syndrome CHD7, FGF8, FGFR1, GNRHR, KISS1R, PROK2, PROKR2, TACR3
83 Tiểu đường khởi phát tuổi trưởng thành Maturity-onset diabetes of the young (MODY) ABCC8, BLK, GCK, HNF1A, HNF1B, HNF4A, INS, KCNJ11, KLF11, PAX4, PDX1, RFX6
84 Béo phì Monogenic obesity ADCY3, ALMS1*, ARL6, BBS1, BBS2, BBS4, BBS5, BBS7, BBS9, BBS10, BBS12, CEP290*, CUL4B, GNAS, LEP, LEPR, MAGEL2, MC3R, MC4R, MKKS, MKS1, NR0B2, NTRK2, PCSK1, PHF6, POMC, PPARG, SDCCAG8, SIM1, TRIM32, TTC8, UCP3, VPS13B, WDPCP
85 Suy buồng trứng sớm Premature ovarian failure BMP15, CYP19A1, FOXL2, FSHR, GALT, GNAS, LHCGR, LMNA, NOBOX, NR5A1, POLG, POR, STAR, WT1
Tai mũi họng
86 Hội chứng Alport Alport syndrome CD151, COL4A3, COL4A4, COL4A5, COL4A6, MYH9
87 Hội chứng Branchio–Oto–Renal Branchio-Oto-Renal syndrome EYA1, SIX1, SIX5, TFAP2A
88 Mất thính lực và điếc Comprehensive hearing loss and deafness ABHD12, ACTG1*, AIFM1, ALMS1*, ANKH, ATP6V1B1, BCS1L, BSND, BTD, CABP2, CAC- NA1D, CCDC50, CD151, CDH23, CDKN1C, CEACAM16, CHD7, CHSY1, CIB2, CLDN14, CLRN1, COCH, COL2A1, COL4A3, COL4A4, COL4A5, COL4A6, COL9A1, COL9A2, COL9A3, COL11A1, COL11A2, CRYM, DCAF17, DFNA5, DFNB31, DFNB59, DIABLO, DIAPH1, DIAPH3, DLX5, DNMT1, DSPP, EDN3, EDNRB, ESPN*, ESRRB, EYA1, EYA4, FGF3, FGFR3, FOXI1, GATA3, GIPC3,GJB2, GJB3, GJB6, GPSM2, GRHL2, GRXCR1, HARS*, HARS2, HGF, HOXB1, HSD17B4, ILDR1, KARS, KCNE1, KCNJ10, KCNQ1, KCNQ4, KIT, LHFPL5, LOXHD1, LRP2, LRTOMT, MAN2B1, MANBA, MARVELD2, MET, MGP, MIR96, MITF, MSRB3, MYH9, MYH14, MYO3A, MYO6, MYO7A,MYO15A, NARS2, NDP,NLRP3, OTOF, OTOG, OTOGL,PAX3, PCDH15, PDZD7, PEX1, PEX6, PEX26, POLR1C, POLR1D, POU3F4, POU4F3, PRPS1*, RDX*, RMND1*, RPS6KA3, SALL1*, SALL4, SEMA3E, SERPINB6, SIX1, SIX5, SLC17A8, SLC19A2, SLC26A4, SLC26A5, SLC29A3, SLC33A1*, SLC52A2, SLC52A3, SLITRK6, SMAD4, SMPX, SNAI2, SOX10, SUCLA2, SUCLG1, TBC1D24, TCOF1, TECTA, TFAP2A, TIMM8A*, TJP2, TMC1, TMIE, TM- PRSS3, TPRN, TRIOBP, TRMU, TSPEAR*, TYR*, USH1C, USH1G, USH2A, VCAN, WFS1
89 Giãn mao mạch xuất huyết di truyền Hereditary hemorrhagic telangiectasia ACVRL1, ENG, RASA1, SMAD4
90 Hội chứng Pendred Pendred syndrome FOXI1, KCNJ10, SLC26A4
91 Hội chứng Stickler Stickler syndrome COL2A1, COL9A1, COL9A2, COL9A3, COL11A1, COL11A2, LRP2, VCAN
92 Hội chứng Usher Usher syndrome CIB2, CLRN1, DFNB31, HARS*, MYO7A, PCDH15, PDZD7, PEX1, USH1C, USH1G, USH2A
93 Hội chứng Waardenburg Waardenburg syndrome EDN3, EDNRB, KIT, MITF, PAX3, SNAI2, SOX10
Thận
94 Hội chứng Bardet–Biedl Bardet-Biedl syndrome ALMS1*, ARL6, BBS1, BBS2, BBS4, BBS5, BBS7, BBS9, BBS10, BBS12, C8ORF37, CEP290*, IFT172, LZTFL1, MKKS, MKS1, PNPLA6, SDCCAG8, TMEM67, TRIM32, TTC8, WDPCP
95 Hội chứng Bartter Bartter syndrome BSND, CASR, CLCNKA*, CLCNKB*, KCNJ1, SLC12A1, SLC12A3
96 Bệnh lông chuyển Ciliopathy ACVR2B, AHI1, ALMS1*, ANKS6, ARL6, ARL13B, B9D1, B9D2, BBS1, BBS2, BBS4, BBS5, BBS7, BBS9, BBS10, BBS12, C5ORF42, C8ORF37, CC2D2A, CEP41, CEP164, CEP290*, DHCR7, DYNC2H1, EVC, EVC2, FAM58A, GLI2, GLI3, GLIS2, HYLS1, IFT43, IFT80, IFT122*, IFT140, IFT172, INPP5E, INVS, IQCB1, KIF7, LEFTY2*, LZTFL1, MKKS, MKS1, NEK1, NEK8, NODAL, NPHP1, NPHP3, NPHP4, OFD1, PKD1*, PKD2, PKHD1, PMM2, PNPLA6, RPGRIP1L, SDCCAG8, TCTN1, TCTN2, TCTN3,TMEM67, TMEM138, TMEM216, TMEM231, TMEM237, TRIM32, TTC8, TTC21B, USP9X, WDPCP, WDR19, WDR35, ZIC3, ZNF423
97 Nang thận Cystic kidney disease ANKS6, CEP164, CEP290*, COL4A1, EYA1, GLIS2, HNF1B, IFT172, INVS, IQCB1, JAG1, LRP5*, NEK8, NOTCH2*, NPHP1, NPHP3, NPHP4, OFD1, PAX2, PKD1*, PKD2, PKHD1, RPGRIP1L, SDCCAG8, SIX5, TMEM67, TSC1, TSC2, TTC21B, UMOD, VHL, WDR19, ZNF423
98 Đái tháo nhạt Diabetes insipidus AQP2, AVP, AVPR2
99 Hội chứng tán huyết ure Hemolytic uremic syndrome ADAMTS13, C3, CD46*, CFH*, CFHR5, CFI, DGKE, THBD
100 Hội chứng Joubert Joubert syndrome AHI1, ARL13B, B9D1, B9D2, C5ORF42, CC2D2A, CEP41, CEP164, CEP290*, INPP5E, KIF7, MKS1, NPHP1, NPHP3, OFD1, RPGRIP1L, TCTN1, TCTN2, TCTN3, TMEM67, TMEM138, TMEM216, TMEM231, TMEM237, TTC21B, ZNF423
101 Hội chứng Liddle Liddle syndrome SCNN1B, SCNN1G
102 Hội chứng Meckel Meckel syndrome B9D1, B9D2, CC2D2A, CEP290*, MKS1, NPHP3, RPGRIP1L, TCTN2, TMEM67, TMEM216, TMEM231
103 Sỏi thận Nephrolithiasis ADCY10, AGXT, ALPL, APRT, ATP6V1B1, ATP6V0A4, CA2, CASR, CLCN5, CLDN16, CLDN19, CYP24A1, FAM20A, GPHN, GRHPR, HNF4A, HOGA1, HPRT1, KCNJ1, MOCOS, MOCS1*, OCRL, SLC2A9, SLC3A1, SLC4A1, SLC7A9, SLC9A3R1, SLC12A1, SLC22A12, SLC26A1, SLC34A1, SLC34A3, VDR, XDH
104 Nephronophthisis Nephronophthisis ANKS6, CEP164, CEP290*, GLIS2, IFT172, INVS, IQCB1, NEK8, NPHP1, NPHP3, NPHP4, RPGRIP1L, SDCCAG8, TMEM67, TTC21B, WDR19, ZNF423
105 Hội chứng thận hư Nephrotic syndrome ACTN4*, ARHGAP24, ARHGDIA, CD2AP, COL4A3, COL4A4, COL4A5, COQ2, DGKE, FAN1, FN1, INF2, ITGA3, LAMB2, LMX1B, MAFB, MAGI2, MYH9, MYO1E, NPHS1, NPHS2, PLCE1, PTPRO, SCARB2, SMARCAL1, TRPC6, TTC21B, WT1
106 Thận đa nang Polycystic kidney disease JAG1, LRP5*, NOTCH2*, PKD1*, PKD2, PKHD1, PRKCSH, SEC63
107 Rối loạn vận động long chuyển nguyên phát Primary ciliary dyskinesia CCDC39, CCDC40, CCDC103, CFTR, DNAAF1, DNAAF2, DNAAF3, DNAH5, DNAH11*, DNAI1, DNAI2, DNAL1, DYX1C1, HYDIN, INVS, LRRC6, NME8, OFD1, RPGR, RSPH4A, RSPH9
108 Tăng oxalate niệu nguyên phát Primary hyperoxaluria AGXT, GRHPR, HOGA1
109 Giảm aldosteron giả Pseudohypoaldosteronism CUL3, HSD11B2, KCNJ5, KLHL3, NR3C2, SCNN1A, SCNN1B, SCNN1G, WNK1, WNK4
110 Dị dạng thận Renal malformation ACE, AGT, BMP4, EYA1, FAM58A, FANCB, FOXC2, FREM1, FREM2, GATA3, HNF1B, PAX2, PBX1*, REN, RET, ROBO2*, SALL1*, SIX1, SIX5, WT1
111 Toan hoá ống thận Renal tubular acidosis ATP6V1B1, ATP6V0A4, CA2, SLC4A1, SLC4A4
112 Hội chứng Senior-Loken Senior-Loken syndrome CEP290*, INVS, IQCB1, NPHP1, NPHP3, NPHP4, SDCCAG8
Thần kinh
113 Teo cơ xơ cứng cột bên Amyotrophic lateral sclerosis ALS2, ANG, ATL1, BSCL2, CHMP2B, DCTN1, FIG4, FUS, GBE1, GRN, HEXA, KIAA0196, KIF5A, OPTN, PRF1, REEP1, SLC52A3, SOD1, SPAST, SPG11, SPG20, SQSTM1, TARDBP*, UBQLN2, VAPB, VCP
114 Thất điều Ataxia ABCB7, ABHD12, ACO2, ADCK3, AFG3L2*, AHI1, ALDH5A1, ANO10, APTX, ARL6, ARL13B, ATCAY, ATM, ATP1A3, ATP8A2, BBS1, BBS2, BBS4, BBS5, BBS7, BBS9, BBS10, BBS12, BEAN1, C5ORF42, CA8, CACNA1A, CACNB4, CAMTA1, CASK, CC2D2A, CCDC88C, CEP41, CEP290*, CLCN2, CLN5, CP*, CSTB, CYP2U1, CYP27A1, DNAJC19, DNMT1, ELOVL4, FA2H, FGF14, FLVCR1, FMR1, FXN*, GFAP, GOSR2*, GRID2, GRM1, GSS, HARS2, HIBCH, INPP5E, ITM2B, ITPR1, KCNA1, KCNC3, KCND3, KCNJ10, KIF7, LAMA1, LMNB1, LRPPRC, MARS2, MKKS, MKS1, MME, MRE11A, MTFMT, MTPAP, MTTP, NDUFAF6, NDUFS2, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NOL3, NPHP1, NUBPL, OFD1, OPA1, OPHN1, PAX6, PDYN, PEX7, PHYH, PNKD, PNKP, PNPLA6, POLG, PPP2R2B, PRKCG, PRRT2, RPGRIP1L, SACS, SERAC1, SETX, SIL1, SLC1A3, SLC2A1, SLC9A6, SLC20A2, SLC52A2, SPG7, SPTBN2, SYNE1, SYT14*, TCTN1, TCTN2, TCTN3, TDP1, TGM6, TMEM67, TMEM138, TMEM216, TMEM231, TMEM237, TPP1, TRIM32, TTBK2, TTC8, TTC19, TTPA, VLDLR, WDPCP, WDR81, WFS1, WWOX, ZFYVE26, ZNF423
115 Tự kỷ Autism spectrum disorders BCL11A, CACNA1C*, CC2D1A, CTNND2, DHCR7, EN2, FOXP1, GAMT, MECP2, NLGN3, NLGN4X, NSD1, POGZ, PTCHD1, PTEN*, RPL10, SHANK3, TRIP12, TSC1, TSC2
116 Dị dạng mạch máu não Cerebral cavernous malformation CCM2, KRIT1, PDCD10, RASA1
117 Charcot–Marie–Tooth Charcot-Marie-Tooth neuropathy AARS, AIFM1, AMACR, ARHGEF10, ATL1, ATP7A, BAG3, BSCL2, CCT5, COX10*, CTDP1, DCTN1, DHTKD1, DNM2, DNMT1, DST, DYNC1H1, EGR2, FAM134B, FBLN5, FGD4, FIG4, FXN*, GAN, GARS, GDAP1, GJB1, GNE, HADHB, HARS*, HINT1, HK1, HSPB1, HSPB8, IGHMBP2, IKBKAP, INF2, KARS, KIF1A, KIF1B, KIF5A, LDB3, LITAF, LMNA, LRSAM1, MED25, MFN2, MME, MPZ, MTMR2, MYOT, NDRG1, NEFH*, NEFL, NGF, NTRK1, PLEKHG5, PMP22 ,POLG, PRPS1*, PRX, RAB7A, REEP1, SACS, SBF2, SCN9A, SCN11A, SETX, SH3TC2, SLC12A6, SMAD3, SPG11, SPTLC1*, SPTLC2, SURF1, TFG, TRPV4, TTR, TYMP, VCP, WNK1, YARS, ZFYVE26
118 Suy giảm coenzyme Q10 Coenzyme Q10 deficiency ADCK3, ANO10, APTX, COQ2, COQ5, COQ6, COQ9, ETFA, ETFB, ETFDH, PDSS1, PDSS2
119 Rối loạn liên quan collagen loại VI Collagen type VI-related disorders COL4A1, COL4A2, COL6A1, COL6A2, COL6A3, COL12A1
120 Động kinh Comprehensive epilepsy ABAT, ABCD1*, ADAR, ADSL, AFG3L2*, AGA, AIFM1, AIMP1, ALDH3A2, ALDH5A1, ALDH7A1, ALG13, AMACR, AMT, AP4B1, AP4E1, AP4M1, AP4S1*, ARG1, ARHGEF9, ARSA, ARX, ASAH1, ASNS*, ASPA, ATP1A3, ATP13A2, ATRX, BRAT1, BTD, CACNA1A, CACNA1H, CACNB4, CASK, CASR, CC2D1A, CDKL5, CHD2, CHRNA2, CHRNA4, CHRNB2, CLCN2, CLCN4, CLN3, CLN5, CLN6, CLN8, CNTNAP2, COL4A1, COX6B1, COX15, CPT2, CSF1R, CSTB, CTC1, CTSD, CUL4B, CYP27A1, D2HGDH, DARS2, DCX, DDC, DNAJC5, DNM1*, DNM1L, DOCK7, DPYD, DPYS, EARS2, ECM1, EFHC1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EPM2A, ETFA, ETFB, ETFDH, ETHE1, FA2H, FAM126A, FARS2, FH, FLNA, FOLR1, FOXG1, FOXRED1, GABRA1, GABRB3, GABRG2, GALC, GAMT, GCDH, GCH1, GFAP, GFM1, GJC2, GLB1, GLDC, GLRB, GNE, GOSR2*, GPHN, GRIA3, GRIK2, GRIN1, GRIN2A, GRIN2B, GRN, HACE1, HCN1, HEPACAM, HIBCH, HNRNPU, HSD17B10, HTRA1, HTT, IQSEC2, KCNA1, KCNQ2, KCNQ3, KCNT1, KCTD7*, KDM5C, KIF1A, L2HGDH, LGI1, LMNB1, LRPPRC, MAGI2, MARS2, MBD5, MECP2, MED12, MEF2C, MFSD8, MLC1, MOCS1*, MTFMT, MTHFR, NDUFAF5, NDUFAF6, NDUFS2, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NFU1, NHLRC1, NOTCH3, NRXN1, NUBPL, OFD1, OPHN1, PCDH19, PGK1, PHF6, PIGA*, PIGN*, PIGO, PIGV, PLCB1, PLP1, PNKP, PNPO, POLG, POLR3A, POLR3B, PPT1*, PRICKLE1, PRODH*, PRRT2, PSAP, PTS, QDPR, RAB39B, RELN, RMND1*, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, ROGDI, SAMHD1, SCARB2, SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SCO1, SDHAF1, SERAC1, SERPINI1, SLC2A1, SLC6A1, SLC6A8*, SLC9A6, SLC19A3, SLC25A15*, SLC25A22, SLC46A1, SMS, SNAP25, SOX10, SPTAN1, ST3GAL3, ST3GAL5, STXBP1, SUMF1, SUOX, SYN1, TAF1, TBC1D24, TBCE, TBL1XR1*, TCF4, TPP1, TREX1, TSC1, TSC2, TTC19, UBE2A, UBE3A*, UNC80, VPS13A, WDR45, WWOX, YY1, ZEB2*, ZFYVE26
121 Bệnh lý cơ / loạn dưỡng cơ Comprehensive muscular dystrophy / myopathy ACTA1, ANO5, ATP2A1, B3GALNT2, BAG3, CAPN3, CAV3, CFL2, COL4A1, COL4A2, COL6A1, COL6A2, COL6A3, CRYAB, DES, DMD, DNAJB6, DYSF, EMD, FHL1*, FKRP, FKTN, FLNC*, GAA, ISPD, ITGA7, KBTBD13, LAMA2, LARGE, LDB3, LMNA, MEGF10, MME, MTM1, MYH7, MYOT, NEB*, PNPLA2, POLG, POMT1, SGCA, SGCB, SGCD, SGCG, SMCHD1, SYNE1, TCAP, TMEM43, TNNT1, TPM2, TPM3*, TRIM32, TTN*, VMA21, VPS13A
122 Hội chứng nhược cơ bẩm sinh Congenital myasthenic syndromes AGRN, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, COLQ, DOK7, DPAGT1, GFPT1, LAMB2, MUSK, PLEC, RAPSN, SCN4A, STIM1
123 Sa sút trí tuệ Dementia APOE, APP, CHMP2B, CSF1R, FUS, GRN, MAPT, PRNP, PSEN1, PSEN2, SIGMAR1, SNCA, SORL1, TARDBP*, TREM2, UBE3A*, UBQLN2, VCP
124 Loạn trương lực cơ Dystonia ADCY5, ANO3, ATP1A3, DCAF17, FA2H, GCH1, PDGFB, PDGFRB, PNKD, PRRT2, SGCE, SLC2A1, SPR, TH, THAP1, TOR1A
125 Loạn dưỡng cơ Emery-Dreifuss Emery-Dreifuss muscular dystrophy DMD, EMD, FHL1*, LMNA, TMEM43, TTN*
126 Bệnh não do động kinh Epileptic encephalopathy ABAT, ADAR, ADSL, ALDH7A1, ALG13, AMT, ARHGEF9, ARX, ASNS*, BRAT1, CACNA1A, CASK, CDKL5, CHD2, CLCN4, CNTNAP2, COX6B1, CPT2, D2HGDH, DCX, DNM1*, DNM1L, DOCK7, ETHE1, FARS2, FLNA, FOXG1, GABRA1, GABRB3, GABRG2, GAMT, GLDC, GPHN, GRIN1, GRIN2A, GRIN2B, HCN1, HEPACAM, HIBCH, HNRNPU, HTT, KCNQ2, KCNQ3, KCNT1, KIF1A, LRPPRC, MBD5, MECP2, MEF2C, MOCS1*, MTFMT, MTHFR, NDUFAF6, NDUFS2, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NRXN1, NUBPL, PCDH19, PIGA*, PLCB1, PNKP, PNPO, POLG, RMND1*, RNASEH2A, RNASEH2B, ROGDI, SAMHD1, SCN1A, SCN1B, SCN2A, SCN8A, SCO1, SDHAF1, SERAC1, SLC2A1, SLC6A8*, SLC9A6, SLC19A3, SLC25A22, SNAP25, SPTAN1, ST3GAL3, ST3GAL5, STXBP1, SYN1, TBC1D24, TBCE, TCF4, TREX1, TSC1, TSC2, TTC19, UBE3A*, UNC80, WDR45, WWOX, ZEB2*
127 Holoprosencephaly Holoprosencephaly CDON, FGF8, FGFR1, FOXH1, GLI2, GLI3, NODAL, PTCH1, SHH, SIX3, TGIF1, ZIC2
128 Loạn dưỡng và bệnh não chất trắng Leukodystrophy and leukoencephalopathy ABCD1*, ADAR, AIFM1, AIMP1, ALDH3A2, AP4B1, AP4E1, AP4M1, AP4S1*, ARSA, ASPA, CLCN2, COL4A1, COX6B1, COX15, CSF1R, CTC1, CYP27A1, D2HGDH, DARS2, EARS2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, FA2H, FAM126A, FOLR1, FOXRED1, GALC, GFAP, GFM1, GJC2, HEPACAM, HIBCH, HTRA1, L2HGDH, LMNB1, MARS2, MLC1, MTFMT, NDUFAF5, NFU1, NOTCH3, NUBPL, PLP1, POLR3A, POLR3B, PSAP, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, SAMHD1, SCO1, SDHAF1, SERAC1, SOX10, SUMF1, TREX1, TTC19, ZFYVE26
129 Loạn dưỡng cơ chi (LGMD) và loạn dưỡng cơ bẩm sinh LGMD and congenital muscular dystrophy ANO5, B3GALNT2, CAPN3, CAV3, COL4A1, COL4A2, CRYAB, DES, DMD, DNAJB6, DYSF, FKRP, FKTN, ISPD, ITGA7, LAMA2, LARGE, LMNA, MEGF10, MYH7, MYOT, PNPLA2, POMT1, SGCA, SGCB, SGCD, SGCG, SMCHD1, SYNE1, TCAP, TRIM32, TTN*, VMA21
130 Tật không hồi não Lissencephaly ACTB*, ACTG1*, ARX, ATP6V0A2, DCX, FKTN, ISPD, LAMB1, LARGE, PAFAH1B1, POMT1, RELN, TUBA1A*, VLDLR, YWHAE
131 Tật đầu to Macrocephaly / overgrowth syndrome AKT1, AKT3, ASPA, BRWD3, CDKN1C, CHD8, CUL4B, DHCR24, DIS3L2*, DNMT3A, EIF2B5, EZH2, GFAP, GLI3, GPC3, GPSM2, GRIA3, HEPACAM, HUWE1, KIAA0196, KIF7, L1CAM, MED12, MLC1, MPDZ, NFIX, NSD1, OFD1, PIGA*, PIK3CA*, PIK3R2, PTCH1, PTEN*, RAB39B, RNF135, SETD2, SYN1, TSC1, TSC2, UPF3B
132 Chứng đầu nhỏ và giảm sản cầu tiểu não Microcephaly and pontocerebellar hypoplasia AKT3, ASPM, ATR, CASK, CDK5RAP2, CENPJ, CEP63, CEP152, DYNC1H1, DYRK1A, EFTUD2, EXOSC3, GFM1, KIF11, LIG4, MBD5, MCPH1, MRE11A, MYCN, NDE1, NHEJ1, OPHN1, PAFAH1B1, PCNT, PHGDH, PNKP, POMT1, PQBP1, RARS2, RTTN, SEPSECS, STIL, TSEN2, TSEN54, TUBB2B, TUBGCP6, VRK1, WDR62, XRCC4
133 Đau nửa đầu Migraine ATP1A2, ATP1A3, CACNA1A, KCNK18, NOTCH3, POLG, PRRT2, SCN1A, SLC1A3, SLC2A1
134 Bệnh Parkinson Parkinson disease ATP1A3, ATP13A2, DNAJC6, FBXO7, GCH1, LRRK2, MAPT, PARK2, PARK7, PDGFB, PDGFRB, PINK1, PLA2G6, SLC6A3, SLC20A2, SNCA, SPR, TH, VPS13A, VPS35*
135 Liệt chu kỳ Periodic paralysis CACNA1S, CLCN1, KCNJ2, SCN4A
136 Dị dạng nhiều hồi não Polymicrogyria AKT3, FH, GPSM2, LAMC3, NDE1, NSDHL, SRPX2, TUBA1A*, TUBA8, TUBB3*, WDR62
137 Liệt hai chi dưới thể co cứng Spastic paraplegia ABCD1*, AFG3L2*, ALS2, AP4B1, AP4E1, AP4M1, AP4S1*, ARG1, ATL1, B4GALNT1, BSCL2, BTD, CTNNB1, CYP2U1, CYP7B1, CYP27A1, DDHD1, DDHD2, FA2H, FARS2, FXN*, GALC, GBE1, GCH1, GJC2, HACE1, KDM5C, KIAA0196, KIF1A, KIF5A, L1CAM, L2HGDH, MARS2, NIPA1, PAH, PLP1, PNPLA6, REEP1, SACS, SETX, SLC16A2, SLC25A15*, SLC33A1*, SPAST, SPG7, SPG11, SPG20, SPR, TH, ZFYVE26
138 Teo cơ tuỷ Spinal muscular atrophy AARS, ASAH1, ATP7A, BSCL2, DCTN1, DNAJB2, DYNC1H1, EXOSC3, GARS, HEXA, HSPB1, HSPB3, HSPB8, IGHMBP2, LAS1L*, PLEKHG5, REEP1, SCO2, SLC5A7, TBCE, TRPV4, UBA1, VAPB, VRK1
139 Xơ cứng củ Tuberous sclerosis TSC1, TSC2
140 Giảm trí não liên-kết-X X-Linked intellectual disability 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, KIAA2022, KLF8, L1CAM, LAMP2, MAGT1, MAOA, MBTPS2, MECP2, MED12, MID1*, MTM1, NDP, NDUFA1, 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, SLC6A8*, SLC9A6, SLC16A2, SMC1A, SMS, SOX3, SRPX2, SYN1, SYP, TAF1, TIMM8A*, TSPAN7, UBE2A, UPF3B, USP9X, ZCCHC12, ZDHHC9, ZNF41, ZNF81, ZNF674, ZNF711
Tiêu hóa
141 Ứ mật Cholestasis ABCB4, ABCB11, ABCC2, AKR1D1, ATP8B1, BAAT, CFTR, CREB3L3, CYP7B1, DGUOK, EPCAM, FAH, HSD3B7, JAG1, LCT, LMF1, MKS1, MYO5B*, NEUROG3, NOTCH2*, NPC1, NPC2, NPHP1, NPHP3, NPHP4, NR1H4, PEX1, PEX2, PEX5, PEX6, PEX10, PEX12, PEX26, SERPINA1, SLC25A13, SLC26A3, SMPD1, SPINT2, TJP2, TMEM216, TRMU, TTC37, UGT1A1, VIPAS39, VPS33B
142 Tiêu chảy bẩm sinh Congenital diarrhea ADAM17, CYP27A1, EPCAM, FOXP3, GUCY2C, IL10, IL10RA, IL10RB, LCT, LIPA, MVK, MYO5B*, NCF2, NEUROG3, SAR1B, SI, SLC5A1, SLC9A3, SLC10A2, SLC26A3, SPINT2, TTC37, XIAP*
143 Xơ gan bẩm sinh Congenital hepatic fibrosis AHI1, ANKS6, ARL6, ARL13B, B9D1, B9D2, BAAT, BBS1, BBS2, BBS4, BBS5, BBS7, BBS9, BBS10, BBS12, C5ORF42, CC2D2A, CEP41, CEP164, CEP290*, GLIS2, INPP5E, INVS, IQCB1, KIF7, LIPA, MKKS, MKS1, NEK8, NPHP1, NPHP3, NPHP4, NR1H4, OFD1, PKD2, PKHD1, RPGRIP1L, TCTN1, TCTN2, TCTN3, TMEM67, TMEM138, TMEM216, TMEM231, TMEM237, TRIM32, TTC8, TTC21B, WDR19, WDR35, ZNF423
144 Hẹp đường tiêu hoá Gastrointestinal atresia CHD7, CLMP, DHCR7, EFTUD2, FANCB, FANCC, GLI3, MID1*, MYCN, PTF1A, RFX6, SOX2*
145 Hirschsprung Hirschsprung disease BDNF, EDN3, EDNRB, L1CAM, MITF, NRG1, NRTN, PAX3, PHOX2B, RET, SOX10, ZEB2*
146 Viêm tụy Pancreatitis APOA5, CFTR, CTRC, GPIHBP1, PRSS1*, SPINK1, UBR1
147 Gan đa nang Polycystic liver disease LRP5*, PKD1*, PKD2, PRKCSH, SEC63
148 Chuyển vị bất thường và đảo ngược phủ tạng Heterotaxy and situs inversus ACVR2B, ANKS6, CCDC39, CCDC40, CCDC103, DNAAF1, DNAAF2, DNAAF3, DNAH5, DNAH11*, DNAI1, DNAI2, DNAL1, DYX1C1, FOXH1, GDF1, INVS, LEFTY2*, LRRC6, NODAL, ZIC3
Tim mạch
149 Loạn nhịp tim Arrhythmia ABCC9, AKAP9, ANK2, BAG3, CACNA1C*, CACNB2, CALM1*, CALM3, CASQ2, CAV3, CTNNA3, DBH, DES, DSC2, DSG2, DSP, FLNC*, GATA6, HADHA, HCN4, JUP, KCNA5, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, LDB3, LMNA, MYH6, MYH7, NKX2-5, NOS1AP, NUP155, PKP2*, RYR2, SALL4, SCN10A, SCN1B, SCN3B, SCN5A, TBX5, TGFB3, TMEM43, TNNI3, TNNI3K, TNNT2, TRDN, TRPM4, TTN*
150 Bệnh cơ tim Cardiomyopathy AARS2, ABCC6*, ABCC9, ACAD9, ACADVL, ACTA1, ACTC1, ACTN2, AGK*, AGL, ALMS1*, ANO5, APOA1, BAG3, BRAF*, CALR3, CAPN3, CASQ2, CBL, COX15, CPT2, CRYAB, CSRP3, CTNNA3, DBH, DES, DMD, DNAJC19, DOLK, DSC2, DSG2, DSP, DTNA, DYSF, ELAC2, EMD, ETFA, ETFB, ETFDH, FHL1*, FKRP, FKTN, FLNC*, FOXRED1, FXN*, GAA, GATA6, GATAD1, GBE1, GFM1, GLA, GLB1, GUSB*, HADHA, HAND1, HCN4, HFE, HRAS, ISPD, JPH2, JUP, KRAS*, LAMA2, LAMP2, LARGE, LDB3, LMNA, MAP2K1, MAP2K2, MLYCD, MTO1, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYOT, MYPN, NEXN, NF1*, NRAS, PCCA, PCCB, PKP2*, PLEC, PNPLA2, PRDM16, PTPN11, RAF1, RBM20, RMND1*, RYR2, SCN5A, SCNN1B, SCNN1G, SCO2, SDHA*, SGCA, SGCB, SGCD, SGCG, SHOC2, SLC22A5, SLC25A4, SLC25A20, SMCHD1, SOS1, SPRED1, TAB2, TAZ, TBX5, TBX20*, TCAP, TGFB3, TMEM43, TMEM70, TNNC1, TNNI3, TNNI3K, TNNT2, TPM1, TRIM32, TSFM, TTN*, TTR, VCL, VCP, VPS13A, XK
151 Bệnh động mạch chủ Aorta disease ABCC6*, ABL1, ACTA2, ADAMTS10, ADAMTS17, ADAMTS2, ADAMTSL4, ALDH18A1, BGN, CBS, COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, EFEMP2, ELN,ENPP1, FBLN5, FBN1, FBN2, FKBP14, FLNA, GATA5, MYH11, NOTCH1, PLOD1, SKI,SLC2A10, SLC39A13, SMAD2, SMAD3, SMAD6, TGFB2, TGFB3, TGFBR1, TGFBR2, ZNF469
152 Bệnh tim bẩm sinh Congenital structural heart disease ABL1, ACTA2, ACTB*, ACTC1, ACTG1*, ACVR1, ACVR2B, ADAMTS10, ADAMTS17, B3GAT3*, BCOR, BMPR2, CBL, CDK13, CHD4, CHD7, CRELD1, CTC1, DHCR7, EFTUD2, EIF2AK4, ELN, ENG, FLNA, GATA4, GATA5, GATA6, GDF1, GJA1*, GJA5, GPC3, HAND1, HOXA1, HRAS, JAG1, LEFTY2*, MEIS2, MYCN, NAA15, NF1*, NKX2-5, NKX2-6, NODAL, NOTCH1, NOTCH2*, NR2F2, NSD1, PITX2, PPP1CB#, PRKD1, RBM10, SALL4, SOS2, TAB2, TBX1, TBX5, TBX20*, TFAP2B, TGDS, TLL1, ZFPM2, ZIC3
153 Tăng áp động mạch phổi Pulmonary artery hypertension ACVRL1, BMPR2, CAV1, ENG, FOXF1, KCNA5, KCNK3, NFU1, SMAD4, TBX4
154 Hội chứng Marfan Marfan syndrome ABL1, ADAMTS10, ADAMTS17, ADAMTSL4, BGN, CBS, COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, COL11A1, COL11A2, EFEMP2, FBN1, FBN2, MED12, PLOD1, SKI, SLC2A10, SMAD3, SMAD6, TGFB2, TGFB3, TGFBR1, TGFBR2, UPF3B, VCAN
155 Hội chứng Noonan Noonan syndrome ACTB*, ACTG1*, BRAF*, CBL, HRAS, KRAS*, MAP2K1, MAP2K2, NF1*, NRAS, NSUN2, PTPN11, RAF1, SHOC2, SOS1, SPRED1
156 Giãn mao mạch di truyền xuất huyết Hereditary hemorrhagic telangiectasia (HHT) ACVRL1, ENG, SMAD4
157 Tăng lipid máu Hyperlipidemia ABCA1, ABCG5, ABCG8, ALMS1*, APOA1, APOA5, APOB, APOC2, APOC4, APOE, CREB3L3, GPIHBP1, LDLR, LDLRAP1, LIPA, LMF1, LPL, PCSK9
Xương khớp sụn
158 Hội chứng 3-M/ lùn nguyên thủy 3-M syndrome / primordial dwarfism ATR, BCS1L, CCDC8, CDC6, CDT1, CENPJ, CEP63, CEP152, CUL7, NOTCH2*, OBSL1, ORC1, ORC4, ORC6, PCNT, POC1A, RBBP8, RTTN, SRCAP, TRIM37, XRCC4
159 Tạo men răng bất toàn và tạo ngà răng bất toàn Amelogenesis imperfecta and dentinogenesis imperfecta AMELX, C4ORF26, DLX3, DSPP, ENAM, FAM20A, FAM83H, ITGB6, KLK4, LAMB3, LTBP3, MMP20, WDR72
160 Chứng co cứng khớp Arthrogryposes ACTA1, AGRN, BIN1, CASK, CFL2, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CHST14, CHUK, COL6A2, COLQ, DHCR24, DOK7, DPAGT1, EGR2, ERBB3, ERCC5, ERCC6*, EXOSC3, FBN2, FHL1*, FKBP10, FKTN, FLVCR2, GBA*, GBE1, GFPT1, GLE1, KAT6B, LMNA, MPZ, MTM1, MUSK, MYBPC1, MYH2, MYH3, MYH8, NEB*, PLOD2, PMM2, RAPSN, RARS2, RIPK4, SCO2, SMN2, TGFB3, TK2, TNNI2, TNNT1, TNNT3, TPM2, TPM3*, TRPV4, TSEN2, TSEN54, UBA1, VIPAS39, VPS33B, VRK1
161 Tật ngón ngắn / tật dính ngón Brachydactyly / syndactyly BMP2, BMPR1B, CHSY1, DHCR7, ESCO2, FAM58A, GDF5, GNAS, HOXA13, HOXD13, IHH, MYCN, NOG, PDE4D, PTHLH, RECQL4, ROR2, SOX9, TP63
162 Loạn sinh sụn dạng đốm Chondrodysplasia punctata AGPS, ARSE*, EBP, GNPAT, LBR, NSDHL, PEX7, PEX14, PEX19
163 Sứt môi/hở hàm ếch và các hội chứng liên quan Cleft lip/palate and associated syndromes COL2A1, COL9A1, COL9A2, COL9A3, COL11A1, COL11A2, FOXE1, IRF6, KDM6A, KMT2D, MSX1, SATB2, TBX22, TP63
164 Rối loạn tăng trưởng / loạn sản xương và các rối loạn Comprehensive growth disorders / skeletal dysplasias and disorders CLCN5, CLCN7, COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, COL9A1, COL9A2, COL9A3, COL10A1, COL11A1, COL11A2, COMP, CREBBP, CRTAP, CTSK, CUL7, CYP27B1, DDR2, DHCR7, DHCR24, DHODH, DLL3, DLX3, DLX5 ,DMP1, DOCK6, DYM, DYNC2H1, EBP, EFNB1, EFTUD2, EIF2AK3, ENAM, ENPP1, EP300, ERCC4, ESCO2, EVC, EVC2, EXT1, EXT2, EXTL3, EZH2, FAM20A, FAM20C, FAM58A, FAM83H, FANCA, FANCB, FANCC, FANCD2*, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FBN1, FBN2, FGD1, FGF10, FGF23, FGFR1, FGFR2, FGFR3, FKBP10, FLNA, FLNB, GALNT3, GDF5, GH1*, GHR, GHRHR, GLI2, GLI3, GNAS, GNPAT, GPC6, HDAC8, HESX1, HOXA13, HOXD13, HRAS, HSPG2, IDS*, IFITM5, IFT43, IFT80, IFT122*, IFT140, IFT172, IGF1, IGF1R, IGFALS, IHH, IMPAD1, INSR, IRS1, KAT6B, KIF7, KIF22, KRAS*, LBR, LEMD3, LHX3, LHX4, LIFR, LMNA, LMX1B, LRP4, LRP5*, LTBP2, LTBP3, MAFB, MAP2K1, MAP2K2, MATN3, MBTPS2, MESP2, MGP, MMP2, MMP9, MMP13, MSX2*, MYCN, NF1*, NFIX, NIPBL, NKX3-2, NOG, NOTCH1, NOTCH2*, NPR2, NRAS, NSD1, NSDHL, OBSL1, ORC1, ORC4, ORC6, OSTM1, OTX2, PALB2, PAPSS2, PCNT, PDE4D, PEX7, PEX14, PEX19, PHEX, PIK3CA*, PITX2, PLOD2, POC1A, POLR1C, POLR1D, POR, POU1F1, PPIB, PRKAR1A, PROP1, PTH1R, PTHLH, PTPN11, PYCR1, RAD21*, RAD51C, RAF1, RBBP8, RBPJ*, RECQL4, ROR2, RTTN, RUNX2, SALL1*, SALL4, SERPINF1, SERPINH1, SETBP1, SF3B4, SH3BP2, SH3PXD2B, SHOC2, SHOX*, SKI, SLC26A2, SLC29A3, SLC34A3, SLC35D1, SLC39A13, SLCO2A1, SLX4, SMAD3, SMAD4, SMARCAL1, SMC1A, SMC3, SNX10, SOS1, SOST, SOX2*, SOX3, SOX9, SP7, SRCAP, STAT5B*, TBX3, TBX4, TBX5, TBX6, TBX15, TBX19, TCIRG1, TCOF1, TCTN3, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2, TNFRSF11A, TNFRSF11B, TNFSF11, TP63, TRIM37, TRIP11*, TRPS1, TRPV4, TTC21B, TWIST1, TYROBP, VDR, VIPAS39, WDR19, WDR35, WISP3, WNT5A, WNT7A, XRCC2, XRCC4, XYLT1
165 Hội chứng Cornelia De Lange Cornelia de Lange syndrome HDAC8, NIPBL, RAD21*, SMC1A, SMC3
166 Chứng dính liền khớp sọ Craniosynostosis ALPL, ALX3, ALX4, BMP4, EDNRB, EFNB1, ESCO2, FGFR1, FGFR2, FGFR3, FLNB, FREM1, GDF5, GLI3, IFT122*, IFT140, IL11RA, MASP1, MEGF8, MSX2*, NOG, PAX3, POR, RAB23, RECQL4, SKI, SOX10, TGFBR1, TGFBR2, TWIST1, TWIST2, WDR19, WDR35
167 Lồi xương và các rối loạn liên quan Exostosis and related disorders EXT1, EXT2, PTPN11
168 Loạn phát xương vùng mặt và rối loạn liên quan Facial dysostosis and related disorders ALPL, ALX3, ALX4, CREBBP, DHODH, DLL3, EFNB1, EFTUD2, EHMT1, EP300, EVC, EVC2, HDAC8, HSPG2, LIFR, MYCN, NIPBL, POLR1C, POLR1D, SF3B4, SMC1A, SMC3, SRCAP, TCOF1, TWIST1, UBE2A
169 Dị dạng chi Limb malformations ARHGAP31, ATR, BHLHA9, BRCA2, BRIP1, DHODH, DLX5, DOCK6, ERCC4, ESCO2, FANCA, FANCB, FANCC, FANCD2*, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FGF10, GDF5, HDAC8, NIPBL, NOTCH1, NSDHL, PALB2, RAD21*, RAD51C, RBPJ*, RECQL4, SALL1*, SALL4, SF3B4, SLX4, SMC1A, SMC3, TBX3, TBX5, TP63, WNT7A, XRCC2
170 Hội chứng đầu to Lymphatic malformations and related disorders AKT1, AKT3, ASPA, BRWD3, CDKN1C, CHD8, CUL4B, DHCR24, DIS3L2*, DNMT3A, EIF2B5, EZH2, GFAP, GLI3, GPC3, GPSM2, GRIA3, HEPACAM, HUWE1, KIAA0196, KIF7, L1CAM, MED12, MLC1, MPDZ, NFIX, NSD1, OFD1, PIGA*, PIK3CA*, PIK3R2, PTCH1, PTEN*, RAB39B, RNF135, SETD2, SYN1, TSC1, TSC2, UPF3B
171 Hội chứng Meier–Golin Meier-Gorlin syndrome CDC6, CDT1, ORC1, ORC4, ORC6
172 Chứng đầu nhỏ và giảm sản cầu tiểu não Microcephaly and pontocerebellar hypoplasia AKT3, ASPM, ATR, CASK, CDK5RAP2, CENPJ, CEP63, CEP152, DYNC1H1, DYRK1A, EFTUD2, EXOSC3, GFM1, KIF11, LIG4, MBD5, MCPH1, MRE11A, MYCN, NDE1, NHEJ1, OPHN1, PAFAH1B1, PCNT, PHGDH, PNKP, POMT1, PQBP1, RARS2, RTTN, SEPSECS, STIL, TSEN2, TSEN54, TUBB2B, TUBGCP6, VRK1, WDR62, XRCC4