Disease #00187

Official abbreviation MRX;IDX
Name mental retardation, X-linked (MRX, intellectual disability (IDX))
OMIM ID -
Inheritance -
Individuals reported having this disease 1912
Phenotype entries for this disease 1900
Associated with 3 genes ARX, CXorf56, IL1RAPL1
Associated tissues -
Disease features X-linked
Remarks -


Individuals

1912 entries on 20 pages. Showing entries 1 - 100.
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AscendingIndividual ID     

ID_report     

Reference     

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Gender     

Consanguinity     

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Population     

Age/Death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
00000166 - PubMed: Tarpey 2009 208 families with X-linked mental retardation M - ? (unknown) - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX for details contact Lucy Raymond HSD17B10, OFD1 HSD17B10, OFD1 3 208 Johan den Dunnen
00000406 - PubMed: Cacciagli 2014 5-generation family, 4 affecteds, 3 unaffected carrier females M no United States Dutch - 0 - - MRX;IDX see paper, {PMID:Huang 1991:1746558}; mental retardation, Dandy-Walker malformation, basal ganglia disease, seizures AP1S2 AP1S2 1 4 Laurent Villard
00002444 19377101-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - BCOR BCOR 1 1 Lucy Raymond
00002445 19377102-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - BCOR BCOR 1 167 Lucy Raymond
00002446 19377103-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - BCOR BCOR 1 1 Lucy Raymond
00002447 19377104-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - BCOR BCOR 1 14 Lucy Raymond
00002448 19377105-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - BCOR BCOR 1 1 Lucy Raymond
00002449 19377106-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - BCOR BCOR 1 1 Lucy Raymond
00003120 - PubMed: Raynaud 2000 family MRX74, 3-generation family, 6 affecteds and 4 healthy carrier females M no France - - 0 - - MRX;IDX - EFHC2 EFHC2 1 10 Johan den Dunnen
00003121 19377107-Pat? PubMed: Tarpey 2009 only summary data are given - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - EFHC2 EFHC2 1 1 Lucy Raymond
00003122 19377108-Pat? PubMed: Tarpey 2009 summary data are given - M no - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - EFHC2 EFHC2 1 1 Lucy Raymond
00003123 19377109-Pat? PubMed: Tarpey 2009 only summary data are given - M no - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - EFHC2 EFHC2 1 12 Lucy Raymond
00003124 19377110-Pat? PubMed: Tarpey 2009 only summary data are given - M no - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - EFHC2 EFHC2 1 15 Lucy Raymond
00003125 19377111-Pat? PubMed: Tarpey 2009 only summary data are given - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - EFNB1 EFNB1 1 1 Lucy Raymond
00003126 19377112-Pat? PubMed: Tarpey 2009 only summary data are given - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - EFNB1 EFNB1 1 1 Lucy Raymond
00003177 - PubMed: Stromme 2002 family, 7 affected males M no Australia - - 0 - - MRX;IDX mental retardation ARX ARX 1 7 Johan den Dunnen
00003178 - PubMed: Stromme 2002 family, 4 affected males M no Australia - - 0 - - MRX;IDX mental retardation ARX ARX 1 4 Johan den Dunnen
00004306 19377113-Pat? PubMed: Tarpey 2009 - ? ? - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - G6PD G6PD 1 1 Lucy Raymond
00004307 19377114-Pat? PubMed: Tarpey 2009 - ? ? - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - G6PD G6PD 1 1 Lucy Raymond
00004308 19377115-Pat? PubMed: Tarpey 2009 - ? ? - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - G6PD G6PD 1 1 Lucy Raymond
00016861 - - - M - - - - 0 - - MRX;IDX - PHF6 PHF6 1 1 Andreas Tzschach
00016919 19377116-Pat? PubMed: Tarpey 2009 . M ? - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - USP9X USP9X 1 4 Lucy Raymond
00016920 19377117-Pat? PubMed: Tarpey 2009 . M ? - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - USP9X USP9X 1 1 Lucy Raymond
00016921 19377118-Pat? PubMed: Tarpey 2009 . M ? - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - USP9X USP9X 1 1 Lucy Raymond
00016923 19377119-Pat? PubMed: Tarpey 2009 . M ? - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - - - 0 1 Lucy Raymond
00016924 - PubMed: Tarpey 2009 3-generation family, 3 affected males, 2 unaffected carrier females M no - - - 0 - - MRX;IDX - USP9X USP9X 1 1 Johan den Dunnen
00016931 - PubMed: Tarpey 2004, Journal: Tarpey 2004 4-generation family, 5 affected males, 4 unaffected carrier females M no Australia - - 0 - - MRX;IDX see paper; {PMID:Turner 2003:12599187} AP1S2 AP1S2 1 5 Johan den Dunnen
00016932 - - - - - - - - 0 - - MRX;IDX - AP1S2 AP1S2 1 1 Andreas Tzschach
00016952 19377120-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - DLG3 DLG3 1 1 Lucy Raymond
00016953 19377121-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - DLG3 DLG3 1 1 Lucy Raymond
00016954 19377122-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - KDM5C KDM5C 1 1 Lucy Raymond
00016955 19377123-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - KDM5C KDM5C 1 1 Lucy Raymond
00016956 19377124-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - KDM5C KDM5C 1 1 Lucy Raymond
00016957 19377125-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - KDM5C KDM5C 1 1 Lucy Raymond
00016958 19377126-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - OPHN1 OPHN1 1 12 Lucy Raymond
00016959 19377127-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - OPHN1 OPHN1 1 1 Lucy Raymond
00016960 19377128-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - OPHN1 OPHN1 1 1 Lucy Raymond
00016961 19377129-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - OPHN1 OPHN1 1 1 Lucy Raymond
00016962 19377130-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - SLC16A2 SLC16A2 1 1 Lucy Raymond
00016963 19377131-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - UBE2A UBE2A 1 1 Lucy Raymond
00016964 19377132-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - UBE2A UBE2A 1 1 Lucy Raymond
00016965 19377133-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - CUL4B CUL4B 1 1 Lucy Raymond
00016966 19377134-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - CUL4B CUL4B 1 1 Lucy Raymond
00016967 19377135-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - CUL4B CUL4B 1 1 Lucy Raymond
00016968 19377136-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - CUL4B CUL4B 1 1 Lucy Raymond
00016969 19377137-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - CUL4B CUL4B 1 1 Lucy Raymond
00016970 19377138-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - CUL4B CUL4B 1 1 Lucy Raymond
00016971 19377139-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - CUL4B CUL4B 1 1 Lucy Raymond
00016972 19377140-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - UPF3B UPF3B 1 1 Lucy Raymond
00016973 19377141-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - UPF3B UPF3B 1 1 Lucy Raymond
00016974 19377142-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - UPF3B UPF3B 1 1 Lucy Raymond
00016975 19377143-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - UPF3B UPF3B 1 1 Lucy Raymond
00016976 19377144-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - ZDHHC9 ZDHHC9 1 1 Lucy Raymond
00016977 19377145-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - ZDHHC9 ZDHHC9 1 1 Lucy Raymond
00016978 19377146-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - ZDHHC9 ZDHHC9 1 1 Lucy Raymond
00016979 - PubMed: Shoubridge 2010, Journal: Shoubridge 20105 5-generation family, 8 affected males, 7 unaffected heterozygous carrier females M no United States ? - 0 - - MRX;IDX see paper; ... IQSEC2 IQSEC2 1 8 Johan den Dunnen
00016980 - PubMed: Shoubridge 2010, Journal: Shoubridge 20105 5-generation family, 12 affected males, 5 unaffected heterozygous carrier females, 2 with learning problems M no Australia 8 - 0 - - MRX;IDX moderate to severe ID, seizures in some males from adolescence; female carriers with varying level IS; see paper ... IQSEC2 IQSEC2 1 1 Johan den Dunnen
00016981 - PubMed: Shoubridge 2010, Journal: Shoubridge 20105 5-generation family, 12 affected males, 8 unaffected heterozygous carrier females M no Australia - - 0 - - MRX;IDX all affected males remained non-syndromic with general good health; 2 males (III6,IV22) developed psychiatric problems and V5 has infrequent seizures; carrier females were less academically ablecompared to their non-carrier siblings; majority carrier F are well (1 developed schizophrenia) IQSEC2 IQSEC2 1 12 Johan den Dunnen
00016982 19377147-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - MED12 MED12 1 1 Lucy Raymond
00016983 19377148-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - MED12 MED12 1 1 Lucy Raymond
00016984 19377149-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - MED12 MED12 1 54 Lucy Raymond
00016985 19377150-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - MED12 MED12 1 1 Lucy Raymond
00016986 19377151-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - MED12 MED12 1 2 Lucy Raymond
00016987 19377152-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - SLC9A6 SLC9A6 1 1 Lucy Raymond
00016988 19377153-Pat? PubMed: Gilfillan 2008, PubMed: Tarpey 2009 3-generation family, 2 affected males, 3 female carriers unaffected M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - SLC9A6 SLC9A6 1 2 Lucy Raymond
00016989 19377154-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - SLC9A6 SLC9A6 1 1 Lucy Raymond
00016990 19377155-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - SLC9A6 SLC9A6 1 9 Lucy Raymond
00016991 19377156-Pat? PubMed: Tarpey 2009, PubMed: Christianson 1999, PubMed: Gilfillan 2008 family, 2 affected males M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - SLC9A6 SLC9A6 1 2 Lucy Raymond
00016992 19377157-Pat? PubMed: Tarpey 2009 - ? - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - SLC9A6 SLC9A6 1 1 Lucy Raymond
00016996 - - - ? - ? (unknown) ? - 0 - - MRX;IDX - SLC9A6 SLC9A6 1 1 Birgit Neitzel
00016997 - - - ? - ? (unknown) ? - 0 - - MRX;IDX - SLC9A6 SLC9A6 1 1 Birgit Neitzel
00016998 - - - ? - ? (unknown) ? - 0 - - MRX;IDX - SLC9A6 SLC9A6 1 1 Birgit Neitzel
00016999 - - - ? - ? (unknown) ? - 0 - - MRX;IDX - SLC9A6 SLC9A6 1 1 Birgit Neitzel
00017000 - - - ? - ? (unknown) ? - 0 - - MRX;IDX - SLC9A6 SLC9A6 1 1 Birgit Neitzel
00017001 18342287-FamA PubMed: Gilfillan 2008 3-generation family, 3 affected males, 3 female carriers unaffected M - Norway ? - 0 - - MRX;IDX - SLC9A6 SLC9A6 1 3 Johan den Dunnen
00017002 18342287-FamC PubMed: Gilfillan 2008 3-generation family, 3 affected males, 1 female carrier unaffected M - United Kingdom (Great Britain) ? - 0 - - MRX;IDX - SLC9A6 SLC9A6 1 3 Johan den Dunnen
00017006 - - - ? - ? (unknown) ? - 0 - - MRX;IDX - CUL4B CUL4B 1 1 Andreas Tzschach
00017007 - - - M - ? (unknown) ? - 0 - - MRX;IDX - CUL4B CUL4B 1 1 Andreas Tzschach
00017008 - - - M - ? (unknown) ? - 0 - - MRX;IDX - CUL4B CUL4B 1 1 Andreas Tzschach
00017014 - - - ? - ? (unknown) ? - 0 - - MRX;IDX - IQSEC2 IQSEC2 1 1 Andreas Tzschach
00017015 - - - F - ? (unknown) ? - 0 - - MRX;IDX - IQSEC2 IQSEC2 1 1 Andreas Tzschach
00017016 - - - M - ? (unknown) ? - 0 - - MRX;IDX - KDM5C KDM5C 1 1 Andreas Tzschach
00017017 - - - M - ? (unknown) ? - 0 - - MRX;IDX - MED12 MED12 1 1 Andreas Tzschach
00017018 - - - M - ? (unknown) ? - 0 - - MRX;IDX - OPHN1 OPHN1 1 1 Andreas Tzschach
00017019 - - - M - ? (unknown) ? - 0 - - MRX;IDX - UPF3B UPF3B 1 1 Andreas Tzschach
00017020 - - - M - ? (unknown) ? - 0 - - MRX;IDX - ZDHHC9 ZDHHC9 1 1 Andreas Tzschach
00017021 - - - M - ? (unknown) ? - 0 - - MRX;IDX - DLG3 DLG3 1 1 Andreas Tzschach
00017022 - - - M - ? (unknown) ? - 0 - - MRX;IDX - SLC9A6 SLC9A6 1 1 Andreas Tzschach
00017023 - - - M - ? (unknown) ? - 0 - - MRX;IDX - UBE2A UBE2A 1 1 Andreas Tzschach
00017024 - - - M - ? (unknown) ? - 0 - - MRX;IDX - SLC16A2 SLC16A2 1 1 Andreas Tzschach
00017030 - - - ? - ? (unknown) ? - 0 - - MRX;IDX - KDM5C KDM5C 1 1 Andreas Tzschach
00017895 19377158-Pat? PubMed: Tarpey 2009 - M ? - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX for details contact Lucy Raymond (flr24 @ cam.ac.uk) IL1RAPL1 IL1RAPL1 1 1 Lucy Raymond
00017896 19377159-Pat? PubMed: Tarpey 2009 - M ? - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX for details contact Lucy Raymond (flr24 @ cam.ac.uk) IL1RAPL1 IL1RAPL1 1 1 Lucy Raymond
00017898 - PubMed: Carrie 1999 2-generation family, 3 affected brothers M no - - - 0 - - MRX;IDX - IL1RAPL1 IL1RAPL1 1 3 Johan den Dunnen
00017899 - PubMed: Carrie 1999 - M no - - - 0 - - MRX;IDX - IL1RAPL1 IL1RAPL1 1 1 Johan den Dunnen
00024220 - PubMed: Wibley 2010 4-generation family, 7 affecteds, unafected carrier females M no - - - 0 - - MRX;IDX moderate ID, nonsyndromic CUL4B CUL4B 1 7 Johan den Dunnen
00024221 - PubMed: Wibley 2010 3-generation family, 3 affecteds, unaffected carrier females M - - - - 0 - - MRX;IDX - PTCHD1 PTCHD1 1 3 Johan den Dunnen
00024222 - PubMed: Wibley 2010 4-generation family, 3 affecteds, 2 carrier females M - - - - 0 - - MRX;IDX - WDR13 WDR13 1 3 Johan den Dunnen
00024223 - PubMed: Wibley 2010 2-generation family, 2 affecteds M - - - - 0 - - MRX;IDX degenerative eye disease FAAH2 FAAH2 1 2 Johan den Dunnen
00024224 - PubMed: Wibley 2010 2-generation family, 2 affecteds, carrier mother M - - - - 0 - - MRX;IDX - GSPT2 GSPT2 1 2 Johan den Dunnen
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