Disease #00139

Official abbreviation ID
Name intellectual disability (ID)
OMIM ID -
Individuals reported having this disease 458
Phenotype entries for this disease 388
Associated with 536 genes AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 516 more...AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, AIFM1, AIMP1, AKT3, ALDH18A1, ALDH3A2, ALDH5A1, ALG1, ALG12, ALG13, ALG2, ALG3, ALG6, ALG9, AMT, ANKH, ANKRD11, AP1S1, AP1S2, AP4B1, AP4E1, AP4S1, APTX, ARFGEF2, ARHGAP31, ARHGEF6, ARHGEF9, ARID1A, ARID1B, ARL13B, ARL6, ARX, ASL, ASPA, ASPM, ASXL1, ATP1A2, ATP2A2, ATP6AP2, ATP6V0A2, ATP7A, ATR, ATRX, AUH, B3GALNT2, B3GNT1, B4GALT1, B4GALT7, B9D1, B9D2, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCKDHA, BCKDHB, BCOR, BCS1L, BRAF, BRAT1, BRWD3, BUB1B, C10orf2, C5orf42, CA8, CACNA1C, CACNG2, CAMTA1, CASK, CBS, CC2D1A, CC2D2A, CCBE1, CCDC78, CCDC88C, CD96, CDC6, CDH15, CDK5RAP2, CDKL5, CDKN1C, CDON, CDT1, CENPJ, CEP135, CEP152, CEP290, CEP41, CEP63, CHD7, CHMP1A, CHUK, CLIC2, CNTNAP2, COG1, COG7, COG8, COL2A1, COL4A1, COL4A2, COLEC11, COQ2, COX15, COX7B, CRADD, CRBN, CREBBP, CTDP1, CTNNB1, CUL4B, CYB5R3, D2HGDH, DBT, DCAF17, DCX, DDHD2, DDX11, DHCR24, DHCR7, DHFR, DHTKD1, DIP2B, DIS3L2, DKC1, DLD, DLG3, DNAJC19, DNMT3B, DOCK6, DOCK8, DPAGT1, DPCD, DPM1, DPM2, DPYD, DYM, DYNC1H1, DYNC2H1, DYRK1A, EFTUD2, EHMT1, EIF2AK3, ELOVL4, EMX2, EP300, EPB41L1, EPG5, ERBB3, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, ERLIN2, ESCO2, ETHE1, EVC, EVC2, EYA1, EZH2, FAM20C, FANCD2, FARS2, FGD1, FGFR1, FGFR2, FGFR3, FKRP, FKTN, FLNA, FLNB, FOXG1, FOXP1, FOXRED1, FRAS1, FREM2, FTO, FTSJ1, FUCA1, GAD1, GALE, GALT, GAMT, GATAD2B, GATM, GCH1, GCSH, GDI1, GFAP, GJC2, GLDC, GLI3, GMPPB, GNAS, GNPAT, GNS, GPC3, GPHN, GPR56, GRIA3, GRIK2, GRIN1, GRIN2A, GRIN2B, GSS, GTF2H5, GUSB, HCCS, HCFC1, HDAC4, HDAC8, HEPACAM, HESX1, HLCS, HOXA1, HPD, HRAS, HSD17B10, HSD17B4, IDS, IDUA, IER3IP1, IGBP1, IGF1, IKBKG, IL1RAPL1, INPP5E, IQSEC2, ISPD, JAG1, JAM3, KANSL1, KAT6B, KCNJ1, KCNJ10, KCNK9, KCNQ1OT1, KCNQ2, KCNT1, KCTD7, KDM5C, KDM6A, KIAA1279, KIF11, KIF7, KIRREL3, KMT2D, KPTN, KRAS, L1CAM, L2HGDH, LAMA2, LAMB1, LAMP2, LARGE, LARP7, LIG4, LRP2, LRPPRC, MAGEL2, MAGT1, MAN1B1, MAN2B1, MANBA, MAP2K1, MAP2K2, MASP1, MBD5, MBTPS2, MCCC1, MCOLN1, MCPH1, MECP2, MED12, MED17, MED23, MEF2C, MEGF8, MGAT2, MICU1, MID1, MIR17HG, MKKS, MKS1, MLYCD, MMAA, MMACHC, MMADHC, MNX1, MOCS1, MOCS2, MPDU1, MRPS22, MTR, MTRR, MUT, MVK, MYCN, MYO5A, NAGA, NAGLU, NBN, NDE1, NDP, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NEU1, NF1, NFIX, NHS, NIPBL, NLGN4X, NPHP1, NRAS, NRXN1, NSD1, NSDHL, NSUN2, OCLN, OCRL, OFD1, OPHN1, ORC1, PACS1, PAFAH1B1, PAK3, PANK2, PAX6, PC, PCDH19, PCNT, PDHA1, PEX1, PEX10, PEX11B, PEX13, PEX26, PEX5, PEX7, PGK1, PHF6, PHF8, PHGDH, PIGA, PIGL, PIGN, PIGO, PIGV, PIK3R2, PLA2G6, PLCB1, PLCB4, PLP1, PMM2, PNKP, POLR1C, POLR1D, POLR3A, POLR3B, POMGNT1, POMGNT2, POMT1, POMT2, PORCN, PQBP1, PRPS1, PRSS12, PTCHD1, PTPN11, PVRL1, RAB18, RAB39B, RAB3GAP1, RAB3GAP2, RAB40AL, RAD21, RAD50, RAF1, RAI1, RARS2, RBBP8, RBM28, RBM8A, RELN, RFT1, RMND1, RNASEH2A, RNASEH2B, RNASEH2C, ROGDI, ROR2, RPGRIP1L, RPS6KA3, SALL1, SALL4, SATB2, SC5D, SCO2, SDHA, SERAC1, SETBP1, SH3PXD2B, SHANK3, SHH, SHOC2, SHROOM4, SIL1, SIX3, SIX5, SKI, SLC12A1, SLC12A6, SLC16A2, SLC17A5, SLC25A15, SLC2A1, SLC2A2, SLC33A1, SLC35C1, SLC6A8, SLC9A6, SMARCA2, SMARCA4, SMARCB1, SMC1A, SMC3, SMOC1, SMPD1, SMS, SNAP29, SOBP, SOS1, SOX10, SOX3, SPRED1, SRCAP, SRD5A3, SRPX2, ST3GAL3, STIL, STRA6, STXBP1, SUCLA2, SUOX, SURF1, SYNGAP1, SYP, SYT14, TAT, TBC1D24, TBCE, TBX5, TCF4, TCOF1, TECR, TFAP2A, TFAP2B, TGIF1, TMCO1, TMEM165, TMEM216, TMEM231, TMEM237, TMEM67, TRAPPC9, TREX1, TRIM32, TSC1, TSC2, TSPAN7, TTC8, TUBA1A, TUBB2B, TUSC3, TWIST1, UBE2A, UBE3A, UBE3B, UBR1, UPB1, UPF3B, VLDLR, VPS13B, WDR35, WDR45, WDR62, WDR81, WNT5A, WNT7A, XPA, ZBTB16, ZBTB24, ZDHHC9, ZEB2, ZIC2, ZNF335, ZNF41, ZNF592, ZNF673, ZNF674, ZNF711, ZNF81
Associated tissues -
Disease features -
Remarks -


Individuals

458 entries on 5 pages. Showing entries 1 - 100.
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AscendingIndividual ID     

Individual_ID     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Disease     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
00001234 - PubMed: Schaaf 2013 - M no United States Caucasian - 0 - - ID MAGEL2 MAGEL2 1 1 Christian Schaaf
00001608 - PubMed: Schaaf 2013 - M - United States Hispanic - 0 - - autism, ID MAGEL2 MAGEL2 1 1 Christian Schaaf
00001609 - PubMed: Schaaf 2013 - M - United States Caucasian - 0 - - ID MAGEL2 MAGEL2 1 1 Christian Schaaf
00001610 - PubMed: Schaaf 2013 - M - United States Hispanic - 0 - - ID MAGEL2 MAGEL2 1 1 Christian Schaaf
00002413 - - early-onset epileptic encephalopathy F no Japan - - 0 - - ID - SLC35A2 1 1 Hirotomo Saitsu
00002414 - - - F no Japan - - 0 - - ID - SLC35A2 1 1 Hirotomo Saitsu
00002415 - - early-onset epileptic encephalopathy F no Japan - - 0 - - ID SLC35A2 SLC35A2 1 1 Hirotomo Saitsu
00003059 - Larti et al., submitted - M yes Iran - - 0 - - ID - CLIP1 1 5 Farzaneh Larti
00004117 - - - M no Italy Caucasian - 0 - - ID PAK3 PAK3 1 1 Pamela Magini
00011649 - PubMed: Abou Jamra 2011 4-generation family, 3 affecteds, unaffected carreir parents F yes Israel Iaraeli;Arab - 0 - - ID AP4B1 AP4B1 1 1 Johan den Dunnen
00011650 - PubMed: Abou Jamra 2011 4-generation family, 3 affecteds, unaffected carrier parents F yes Israel Iaraeli;Arab - 0 - - ID AP4B1 AP4B1 1 1 Johan den Dunnen
00011651 - PubMed: Abou Jamra 2011 4-generation family, 3 affecteds, unaffected carrier parents M yes Israel Iaraeli;Arab - 0 - - ID AP4B1 AP4B1 1 1 Johan den Dunnen
00011652 - PubMed: Abou Jamra 2011 6-generation family, 7 affecteds, 2 with markedly different phenotype (not carrier), unaffected carrier parents M yes Syria - - 0 - - ID AP4S1, SLC22A17 AP4S1, SLC22A17 2 1 Johan den Dunnen
00011653 - PubMed: Abou Jamra 2011 6-generation family, 7 affecteds, 2 with markedly different phenotype (not carrier), unaffected carrier parents F yes Syria - - 0 - - ID AP4S1, SLC22A17 AP4S1, SLC22A17 2 1 Johan den Dunnen
00011654 - PubMed: Abou Jamra 2011 6-generation family, 7 affecteds, 2 with markedly different phenotype (not carrier), unaffected carrier parents M yes Syria - - 0 - - ID AP4S1, SLC22A17 AP4S1, SLC22A17 2 1 Johan den Dunnen
00011655 - PubMed: Abou Jamra 2011 3-generation family, 2 affecteds, unaffacted carrier parents M yes Syria - - 0 - - ID AP4E1 AP4E1 1 1 Johan den Dunnen
00011656 - - 3-generation family, 2 affecteds, unaffected carrier parents F yes Syria - - 0 - - ID AP4E1 AP4E1 1 1 Johan den Dunnen
00011657 - PubMed: Abou Jamra 2011 family ? yes Syria - - 0 - - ID AP4E1 AP4E1 1 1 Johan den Dunnen
00011659 - PubMed: Moreno-De-Luca 2011 4-generation family, 2 affecteds, unaffected carrier parents F yes Jordan Palestine - 0 - - ID - AP4E1, DCAF13P3, SPPL2A 1 1 Johan den Dunnen
00011660 - PubMed: Moreno-De-Luca 2011 4-generation family, 2 affecteds, unaffected carrier parents M yes Jordan Palestine - 0 - - ID - AP4E1, DCAF13P3, SPPL2A 3 1 Johan den Dunnen
00016126 - PubMed: Soler-Alfonso 2014 3-generation family, affected twin III.2 M no United States Caucasian >10y 0 - - ID CHRNA7 CHRNA7 1 1 Christian Schaaf
00016306 - - family, 2 affected brothers M yes Palestine Palestinian - 0 - - ID MAN1B1, MUM1L1, NUP214, SASH3, SEC23A MAN1B1, MUM1L1, NUP214, SASH3, SEC23A 5 2 Swati Gupta
00016308 - - - F no Germany - - 0 - - ID NGB SETD5 1 1 Alexander Zink
00016309 - - - F - - - - 0 - - ID - SETD5 1 1 Alexander Zink
00016365 - - patient 1 (Gea Beunders, et al., 2014) M no Netherlands Caucasian >24y 0 - - ID ABI2, AUTS2 ABI2, AUTS2 2 1 Gea Beunders
00016366 - - proband 2 in Beunders et al. 2014 M no Belgium caucasian >20y 0 20y - ID AUTS2 AUTS2 1 1 Gea Beunders
00016656 - PubMed: Vulto van Silfhout 2014 - M ? ? (unknown) Unknown - 0 - - ID DEAF1 DEAF1 1 1 Marianne Vos (LOVD-team)
00016662 - PubMed: Vulto van Silfhout 2014 - F ? ? (unknown) Unknown - 0 - - ID DEAF1 DEAF1 1 1 Marianne Vos (LOVD-team)
00016841 - - - - - - - - 0 - - ID ATRX ATRX 1 2 Andreas Tzschach
00016842 - - - M no - - - 0 - - ID ATRX ATRX 1 1 Andreas Tzschach
00016889 - PubMed: Homan 2014 2-generation family, 1 affected, unaffected non-carrier parents M ? France (France) - 0 - - ID USP9X USP9X 1 1 Marianne Vos (LOVD-team)
00016890 - PubMed: Homan 2014 2-generation family, 1 affected, unaffected heterozygous carrier mother/grandmother M ? United States - - 0 - - ID USP9X ARID1B, USP9X 2 1 Marianne Vos (LOVD-team)
00016891 - PubMed: Homan 2014 2-generation family, 2 affected halfbrothers/uncle, unaffected heterozygous carrier mother/grandmother M ? United Kingdom (Great Britain) (British) - 0 - - ID USP9X USP9X 1 3 Marianne Vos (LOVD-team)
00016925 - - - M - - - - 0 - - ID ATRX ATRX 1 1 Andreas Tzschach
00016948 - PubMed: Popp 2015, Journal: Popp 2015 - F no Germany Europe >02y11m 0 - - ID NAA10 NAA10 1 1 Bernt Popp
00016949 - PubMed: Popp 2015, Journal: Popp 2015 - M no Switzerland - >05y11m 0 - - ID NAA10 NAA10 1 1 Bernt Popp
00017033 - PubMed: Failler 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents F no France European - 0 - - ID, NPHP CEP83 CEP83 2 1 Marianne Vos (LOVD-team)
00017034 - PubMed: Failler 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents M no France European - 0 - - ID, NPHP CEP83 CEP83 2 1 Marianne Vos (LOVD-team)
00017035 - PubMed: Failler 2014 2-generation family, 1 affected, unaffected parents F no ? (unknown) European - 0 - - ID, NPHP CEP83 CEP83 1 1 Marianne Vos (LOVD-team)
00017036 - PubMed: Failler 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents M no France European - 0 - - ID, NPHP CEP83 CEP83 3 1 Marianne Vos (LOVD-team)
00017037 - PubMed: Failler 2014 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents, brothers II1/II2 M no France;Poland European - 0 - - ID, NPHP CEP83 CEP83 2 2 Marianne Vos (LOVD-team)
00017038 - PubMed: Failler 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes (Turkey) Turkish - 0 - - ID, NPHP CEP83 CEP83 1 1 Marianne Vos (LOVD-team)
00017039 - PubMed: Failler 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents F no ? (unknown) latino - 0 - - HYDRO, ID, NPHP CEP83 CEP83 2 1 Marianne Vos (LOVD-team)
00017830 - PubMed: Endele 2010 - M no Germany - - 0 - - ID GRIN2B GRIN2B 2 1 Johan den Dunnen
00017831 - PubMed: Endele 2010 - F no Germany - - 0 - - ID GRIN2B GRIN2B 1 1 Johan den Dunnen
00017832 - PubMed: Endele 2010 - M no Germany - - 0 - - ID GRIN2B GRIN2B 1 1 Johan den Dunnen
00017833 - PubMed: Endele 2010 - F no ? (unknown) European - 0 - - ID GRIN2B GRIN2B 2 1 Johan den Dunnen
00017834 - PubMed: Endele 2010 3-generation family, 3 affecteds (son, mother, grandmother) M no Germany - - 0 - - ID GRIN2A GRIN2A 2 3 Johan den Dunnen
00017835 - PubMed: Endele 2010 - F no France - - 0 - - ID GRIN2A GRIN2A 1 1 Johan den Dunnen
00017841 - PubMed: Ramos-Brossier 2015, Journal: Ramos-Brossier 2015 3-generation family, 3 affecteds (1F, 2M), unaffected carrier (grand)mother M no ? (unknown) - - 0 - - ID IL1RAPL1 IL1RAPL1 1 3 Pierre Billuart
00017846 - PubMed: Ramos-Brossier 2015, Journal: Ramos-Brossier 2015 2-generation family, affected male, carrier mother/sister M no ? (unknown) - - 0 - - ID IL1RAPL1 IL1RAPL1, ZNF528 2 1 Pierre Billuart
00017851 - PubMed: Tarpey 2009; PubMed: Ramos-Brossier 2015, Journal: Ramos-Brossier 2015 2-generation family, 2 affected males, carrier mother M no (France) - - 0 - - ID IL1RAPL1 IL1RAPL1 1 2 Pierre Billuart
00019836 - PubMed: Gilissen 2014 - ? ? ? (unknown) - - 0 - - ID C15orf40, RB1, SSPO, USP42 C15orf40, RB1, SSPO, USP42 4 1 Marianne Vos (LOVD-team)
00019837 - PubMed: Gilissen 2014 - ? ? ? (unknown) - - 0 - - ID CNGA3, CXXC11 CNGA3, CXXC11 3 1 Marianne Vos (LOVD-team)
00019838 - PubMed: Gilissen 2014 - ? ? ? (unknown) - - 0 - - ID CDC5L, POP1, WWP2 CDC5L, CLRN3, POP1 3 1 Marianne Vos (LOVD-team)
00019839 - PubMed: Gilissen 2014 - ? ? ? (unknown) - - 0 - - ID CLRN3, OSBPL9, OTX2, TBR1, YTHDC1 CLRN3, OSBPL9, OTX2, TBR1, YTHDC1 5 1 Marianne Vos (LOVD-team)
00019840 - PubMed: Gilissen 2014 - ? ? ? (unknown) - - 0 - - ID CNOT1 CNOT1 1 1 Marianne Vos (LOVD-team)
00019841 - PubMed: Gilissen 2014 - F ? ? (unknown) - - 0 - - ID CARD8, ELP2, WDR45 CARD8, ELP2, WDR45 3 1 Marianne Vos (LOVD-team)
00019858 - PubMed: Gilissen 2014 - ? ? ? (unknown) - - 0 - - ID LIPI, MFAP3 LIPI, MFAP3 2 1 Marianne Vos (LOVD-team)
00019859 - PubMed: Gilissen 2014 - F ? ? (unknown) - - 0 - - ID FHDC1, FHOD1, SMC1A, ZNF566 FHDC1, FHOD1, SMC1A, ZNF566 4 1 Marianne Vos (LOVD-team)
00019860 - PubMed: Gilissen 2014 - ? ? ? (unknown) - - 0 - - ID GPR52 GPR52 1 1 Marianne Vos (LOVD-team)
00019861 - PubMed: Gilissen 2014 - ? ? ? (unknown) - - 0 - - ID DSP, PTPN21, SPTAN1 DSP, PTPN21, SPTAN1 3 1 Marianne Vos (LOVD-team)
00019862 - PubMed: Gilissen 2014 - ? ? ? (unknown) - - 0 - - ID PI4K2B ASUN, PI4K2B 2 1 Marianne Vos (LOVD-team)
00019863 - PubMed: Gilissen 2014 - ? ? ? (unknown) - - 0 - - ID TBKBP1 TBKBP1 1 1 Marianne Vos (LOVD-team)
00019864 - PubMed: Gilissen 2014, PubMed: Kim 2016, Journal: Kim 2016 2-generation family, 1 affected, unaffected non-carrier parents F ? Netherlands - - 0 - - ID SON SON 1 1 Marianne Vos (LOVD-team)
00019865 - - - F no Italy Caucasian >08y 0 - - ID MED13L MED13L 1 1 Giuseppe Marangi
00019867 - - - F no Italy Caucasian >03y 0 - - CHD, ID MED13L MED13L 1 1 Giuseppe Marangi
00019868 - - - F no United States African american, mexican, philippino >12y 0 - - ID MED13L MED13L 1 1 Giuseppe Marangi
00019869 - PubMed: Gilissen 2014 - ? ? ? (unknown) - - 0 - - ID ALG13, CBLB, KRT32, RAI1 ALG13, CBLB, KRT32, RAI1 4 1 Marianne Vos (LOVD-team)
00019870 - PubMed: Gilissen 2014 - ? ? ? (unknown) - - 0 - - ID HADHA, MED13L HADHA, MED13L 2 1 Marianne Vos (LOVD-team)
00019886 - PubMed: Gilissen 2014 - ? ? ? (unknown) - - 0 - - ID POLQ, ZNF831 POLQ, ZNF831 2 1 Marianne Vos (LOVD-team)
00019887 - PubMed: Gilissen 2014 - ? ? ? (unknown) - - 0 - - ID BRD3, SEZ6, TNIP3 BRD3, SEZ6, TNIP3 3 1 Marianne Vos (LOVD-team)
00019888 - PubMed: Gilissen 2014 - ? ? ? (unknown) - - 0 - - ID SATB2 SATB2 1 1 Marianne Vos (LOVD-team)
00019889 - PubMed: Gilissen 2014 - ? ? ? (unknown) - - 0 - - ID ELMO2, PPP2R5D ELMO2, PPP2R5D 2 1 Marianne Vos (LOVD-team)
00019890 - PubMed: Gilissen 2014 - ? ? ? (unknown) - - 0 - - ID CATSPERB, KCNA1, SPACA7 CATSPERB, KCNA1, SPACA7 3 1 Marianne Vos (LOVD-team)
00019891 - PubMed: Gilissen 2014 - ? ? ? (unknown) - - 0 - - ID DOK4, SCN2A DOK4, SCN2A 2 1 Marianne Vos (LOVD-team)
00019892 - PubMed: Gilissen 2014 - ? ? ? (unknown) - - 0 - - ID USP8 USP8 1 1 Marianne Vos (LOVD-team)
00019893 - PubMed: Gilissen 2014 - ? ? ? (unknown) - - 0 - - ID MAST1, NEK1 MAST1, NEK1 2 1 Marianne Vos (LOVD-team)
00019894 - PubMed: Gilissen 2014 - ? ? ? (unknown) - - 0 - - ID PNLIPRP1 PNLIPRP1 1 1 Marianne Vos (LOVD-team)
00019895 - PubMed: Gilissen 2014 - ? ? ? (unknown) - - 0 - - ID CDC34, FAM46B CDC34, FAM46B 2 1 Marianne Vos (LOVD-team)
00019896 - PubMed: Gilissen 2014 - ? ? ? (unknown) - - 0 - - ID APPL2, SMAD6, ZNF423 APPL2, SMAD6, ZNF423 3 1 Marianne Vos (LOVD-team)
00019897 - PubMed: Gilissen 2014 - ? ? ? (unknown) - - 0 - - ID ATP7B, CEP170B ATP7B, CEP170B 2 1 Marianne Vos (LOVD-team)
00019898 - PubMed: Gilissen 2014 - ? ? ? (unknown) - - 0 - - ID PIAS1 PIAS1 5 1 Marianne Vos (LOVD-team)
00019899 - PubMed: Gilissen 2014 - ? ? ? (unknown) - - 0 - - ID GIPC2 GIPC2 1 1 Marianne Vos (LOVD-team)
00019900 - PubMed: Gilissen 2014 - ? ? ? (unknown) - - 0 - - ID EFS EFS 1 1 Marianne Vos (LOVD-team)
00019901 - PubMed: Gilissen 2014 - ? ? ? (unknown) - - 0 - - ID PCCB, STAG1, ZFYVE16 PCCB, STAG1, ZFYVE16 5 1 Marianne Vos (LOVD-team)
00019906 - PubMed: Gilissen 2014 - ? ? ? (unknown) - - 0 - - ID CLSTN3, NACC1 CLSTN3, NACC1 2 1 Marianne Vos (LOVD-team)
00019907 - PubMed: Gilissen 2014 - ? ? ? (unknown) - - 0 - - ID HIVEP2 HIVEP2 1 1 Marianne Vos (LOVD-team)
00019908 - PubMed: Gilissen 2014, PubMed: Stessman 2016, Journal: Stessman 2016 - M ? Netherlands - - 0 - - ID CFAP61, EYA4, POGZ EYA4, POGZ 3 1 Marianne Vos (LOVD-team)
00019909 - PubMed: Gilissen 2014 - ? ? ? (unknown) - - 0 - - ID RBL2 RBL2 1 1 Marianne Vos (LOVD-team)
00019910 - PubMed: Gilissen 2014 - ? ? ? (unknown) - - 0 - - ID CREBL2, TBR1 CREBL2, TBR1 2 1 Marianne Vos (LOVD-team)
00019911 - PubMed: Gilissen 2014 - ? ? ? (unknown) - - 0 - - ID ABCC8 ABCC8 1 1 Marianne Vos (LOVD-team)
00019912 - PubMed: Gilissen 2014 - ? ? ? (unknown) - - 0 - - ID EPHB1, SMC1A, UCP1 EPHB1, SMC1A, UCP1 3 1 Marianne Vos (LOVD-team)
00019913 - PubMed: Gilissen 2014 - ? ? ? (unknown) - - 0 - - ID BMP8B, KANSL2 BMP8B, ERV3-1, KANSL2 3 1 Marianne Vos (LOVD-team)
00019920 - - - F no Italy Caucasian >04y 0 - - ID SYT1 SYT1 1 1 Giuseppe Marangi
00022445 - - - - - Iran - - 0 - - ID TRMT1 TRMT1 1 1 Behzad Davarnia
00024123 - submitted - M yes Iran;(Iran) Caucasian - 0 - - ID GRM1 GRM1 1 1 Behzad Davarnia
00024233 - PubMed: Gilissen 2014 - - - - - - 0 - - ID ACR, SHANK3 ACR, SHANK3 1 1 Johan den Dunnen
00024234 - PubMed: Gilissen 2014 - - - - - 16y 0 - - ID, RTT MECP2 MECP2 1 1 Johan den Dunnen
00024235 - PubMed: Gilissen 2014 - - - - - - 0 - - COH-1, ID VPS13B VPS13B 2 1 Johan den Dunnen
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