All individuals with variants in gene IDUA

139 entries on 2 pages. Showing entries 1 - 100.
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AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

Panel size     

Owner     
00000066 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00050680 - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected sibling(s) M - United Kingdom (Great Britain) - - - Decipher - ? intrauterine growth retardation, febrile seizures, feeding difficulties in infancy, microcephaly, global developmental delay, deeply set eye, flat nose, shoulder dimples, skin dimples, macrotia, inverted nipples, pes planus, 2-3 toe syndactyly 1 2 Johan den Dunnen
00072212 - - - F no - - - - - - MPS1H - 2 1 Jill Urquhart
00079879 - - - - - Germany - - - - - MPS1H - 2 1 Gemeinschaftspraxis für Humangenetik Dresden
00104893 - - - M no Germany - - - - - Scheie;MPS1S - 1 1 Isabella Rau
00106742 - - - - - India - - - - - MPS1H - 1 1 Arunabha Ghosh
00106743 - - - M - United Kingdom (Great Britain) - - - - - MPS1HS - 2 1 Arunabha Ghosh
00106744 - - - M - United Kingdom (Great Britain) - - - - - MPS1H - 2 1 Arunabha Ghosh
00106745 - - - M - United Kingdom (Great Britain) - - - - - MPS1H - 2 1 Arunabha Ghosh
00106746 - - - F - United Kingdom (Great Britain) - - - - - MPS1H - 2 1 Arunabha Ghosh
00106747 - - - M - Ireland Irish/Turkish - - - - MPS1H - 2 1 Arunabha Ghosh
00106748 - - - M - Turkey - - - - - MPS1H - 1 1 Arunabha Ghosh
00106749 - - - ? - Turkey - - - - - MPS1H - 1 1 Arunabha Ghosh
00106750 - - - M - - - - - - - MPS1H - 1 1 Arunabha Ghosh
00106751 - - - M - India - - - - - MPS1HS - 1 1 Arunabha Ghosh
00106752 - - - M - Jordan - - - - - MPS1HS - 1 1 Arunabha Ghosh
00106753 - - - M - Jordan - - - - - MPS1H - 1 1 Arunabha Ghosh
00106754 - - - F - United Kingdom (Great Britain) - - - - - MPS1H - 2 1 Arunabha Ghosh
00106755 - - - F - United Kingdom (Great Britain) Pakistani - - - - MPS1H - 1 1 Arunabha Ghosh
00106756 - - - M - Scotland - - - - - MPS1HS - 2 1 Arunabha Ghosh
00106757 - - - F - (United Kingdom (Great Britain)) - - - - - MPS1H MPS I Phenotypic severity unknown (Hurler/Hurler-Scheie/Scheie) 1 1 Arunabha Ghosh
00106758 - - - F - (United Kingdom (Great Britain)) - - - - - MPS1H MPS I Phenotypic severity unknown (Hurler/Hurler-Scheie/Scheie) 2 1 Arunabha Ghosh
00106759 - - - ? - United Kingdom (Great Britain) - - - - - MPS1H - 2 1 Arunabha Ghosh
00106760 - - - M - United Kingdom (Great Britain) Pakistani - - - - MPS1H - 1 1 Arunabha Ghosh
00106761 - - - M - (United Kingdom (Great Britain)) - - - - - MPS1H - 2 1 Arunabha Ghosh
00106767 - - - M - Latvia - - - - - MPS1H - 2 1 Arunabha Ghosh
00106768 - PubMed: Bertola 2011 - - - Italy Italian - - - - MPS1HS Hurler-Scheie syndrome 1 1 Gerard C.P. Schaafsma
00106769 - PubMed: Bunge 1994 - - - Italy Italian - - - - MPS1H Hurler syndrome 1 1 Gerard C.P. Schaafsma
00106770 - PubMed: Bunge 1994 - - - Italy Italian - - - - MPS1HS Hurler-Scheie syndrome 2 1 Gerard C.P. Schaafsma
00106771 - PubMed: Bunge 1994 - - - Italy Italian - - - - MPS1H Hurler syndrome 2 1 Gerard C.P. Schaafsma
00106772 - PubMed: Bunge 1994 - - - Italy Italian - - - - Scheie;MPS1S Scheie syndrome 2 1 Gerard C.P. Schaafsma
00106773 - PubMed: Bunge 1994 - - - Italy Italian - - - - Scheie;MPS1S Scheie syndrome 2 1 Gerard C.P. Schaafsma
00106774 - PubMed: Bunge 1994 - - - Italy Italian - - - - MPS1H Hurler syndrome 1 1 Gerard C.P. Schaafsma
00106775 - PubMed: Bunge 1994 - - - Italy Italian - - - - MPS1H Hurler syndrome 2 1 Gerard C.P. Schaafsma
00106776 - PubMed: Bunge 1994 - - - Spain Spanish - - - - MPS1HS Hurler-Scheie syndrome 2 1 Gerard C.P. Schaafsma
00106777 - PubMed: Bunge 1994 - - - Italy Italian - - - - MPS1H Hurler syndrome 2 1 Gerard C.P. Schaafsma
00106778 - PubMed: Bunge 1994 - - - Italy Italian - - - - MPS1HS Hurler-Scheie syndrome 2 1 Gerard C.P. Schaafsma
00106779 - PubMed: Bunge 1994 - - - Poland Polish - - - - Scheie;MPS1S Scheie syndrome 2 1 Gerard C.P. Schaafsma
00106780 - PubMed: Bunge 1994 - - - Turkey Turkish - - - - MPS1HS Hurler-Scheie syndrome 1 1 Gerard C.P. Schaafsma
00106781 - PubMed: Bunge 1994 - - - Turkey Turkish - - - - MPS1HS Hurler-Scheie syndrome 1 1 Gerard C.P. Schaafsma
00106782 - PubMed: Scott 1992 - - - Poland Polish - - - - Scheie;MPS1S Scheie syndrome 2 1 Gerard C.P. Schaafsma
00106783 - PubMed: Scott 1992 - - - Italy Italian - - - - MPS1H Hurler syndrome 1 1 Gerard C.P. Schaafsma
00106784 - PubMed: Scott 1992 - - - Italy Italian - - - - MPS1HS Hurler-Scheie syndrome 1 1 Gerard C.P. Schaafsma
00106785 - PubMed: Scott 1992 - - - Italy Italian - - - - Scheie;MPS1S Scheie syndrome 1 1 Gerard C.P. Schaafsma
00106786 - PubMed: Scott 1992 - - - Italy Italian - - - - MPS1H Hurler syndrome 2 1 Gerard C.P. Schaafsma
00106787 - PubMed: Scott 1992 - - - Italy Italian - - - - MPS1H Hurler syndrome 2 1 Gerard C.P. Schaafsma
00106788 - PubMed: Scott 1992 - - - Italy Italian - - - - MPS1H Hurler syndrome 1 1 Gerard C.P. Schaafsma
00106789 - PubMed: Scott 1992 - - - Italy Italian - - - - MPS1H Hurler syndrome 2 1 Gerard C.P. Schaafsma
00106790 - PubMed: Scott 1992 - - - Italy Italian - - - - MPS1H Hurler syndrome 2 1 Gerard C.P. Schaafsma
00106791 - PubMed: Scott 1992 - - - Italy Italian - - - - MPS1H Hurler syndrome 2 1 Gerard C.P. Schaafsma
00106792 - PubMed: Scott 1992 - - - Poland Polish - - - - MPS1H Hurler syndrome 2 1 Gerard C.P. Schaafsma
00106793 - PubMed: Scott 1992 - - - Poland Polish - - - - MPS1H Hurler syndrome 1 1 Gerard C.P. Schaafsma
00106794 - PubMed: Scott 1992 - - - Poland Polish - - - - MPS1H Hurler syndrome 1 1 Gerard C.P. Schaafsma
00106795 - PubMed: Scott 1992 - - - Poland Polish - - - - MPS1HS Hurler-Hurler/Scheie syndrome 2 1 Gerard C.P. Schaafsma
00106796 - PubMed: Scott 1992 - - - Poland Polish - - - - Scheie;MPS1S Scheie syndrome 2 1 Gerard C.P. Schaafsma
00106797 - PubMed: Scott 1992 - - - Poland Polish - - - - Scheie;MPS1S Scheie syndrome 2 1 Gerard C.P. Schaafsma
00106798 - PubMed: Scott 1992 - - - Poland Polish - - - - MPS1H Hurler syndrome 2 1 Gerard C.P. Schaafsma
00106799 - PubMed: Scott 1992 - - - Poland Polish - - - - MPS1H Hurler syndrome 1 1 Gerard C.P. Schaafsma
00106800 - PubMed: Scott 1992 - - - Poland Polish - - - - MPS1H Hurler syndrome 1 1 Gerard C.P. Schaafsma
00106801 - PubMed: Scott 1992 - - - Poland Polish - - - - MPS1H Hurler syndrome 2 1 Gerard C.P. Schaafsma
00106802 - PubMed: Scott 1992 - - - Poland Polish - - - - MPS1H Hurler syndrome 1 1 Gerard C.P. Schaafsma
00106803 - PubMed: Scott 1992 - - - Poland Polish - - - - MPS1HS Hurler-Scheie syndrome 2 1 Gerard C.P. Schaafsma
00106804 - PubMed: Scott 1992 - - - Spain Spanish - - - - MPS1H Hurler syndrome 1 1 Gerard C.P. Schaafsma
00106805 - PubMed: Scott 1992 - - - Spain Spanish - - - - MPS1H Hurler syndrome 2 1 Gerard C.P. Schaafsma
00106806 - PubMed: Scott 1992 - - - Spain Spanish - - - - MPS1H Hurler syndrome 2 1 Gerard C.P. Schaafsma
00106807 - PubMed: Scott 1992 - - - Turkey Turkish - - - - MPS1H Hurler syndrome 1 1 Gerard C.P. Schaafsma
00106808 - PubMed: Scott 1992 - - - Hungary Hungarian - - - - MPS1H Hurler syndrome 2 1 Gerard C.P. Schaafsma
00106809 - PubMed: Scott 1992 - - - Serbia Serbian - - - - MPS1H Hurler syndrome 1 1 Gerard C.P. Schaafsma
00106810 - PubMed: Bertola 2011 - - - Turkey Turkish - - - - MPS1HS Hurler-Scheie syndrome 2 1 Gerard C.P. Schaafsma
00106811 - PubMed: Bertola 2011 - - - Greece Greek - - - - MPS1HS Hurler-Scheie syndrome 2 1 Gerard C.P. Schaafsma
00106812 - PubMed: Bunge 1995 - - - Italy Italian - - - - MPS1HS Hurler-Scheie syndrome 2 1 Gerard C.P. Schaafsma
00106813 - PubMed: Bertola 2011 - - - Italy Italian - - - - MPS1HS Hurler-Scheie syndrome 1 1 Gerard C.P. Schaafsma
00106814 - PubMed: Venturi 2002 - - - Italy Italian - - - - MPS1H Hurler syndrome 1 1 Gerard C.P. Schaafsma
00106815 - PubMed: Scott 1992 - - - Spain Spanish - - - - MPS1H Hurler syndrome 2 1 Gerard C.P. Schaafsma
00106816 - PubMed: Bertola 2011 - - - Turkey Turkish - - - - MPS1HS Hurler-Scheie syndrome 1 1 Gerard C.P. Schaafsma
00106817 - PubMed: Bertola 2011 - - - Turkey Turkish - - - - MPS1HS Hurler-Scheie syndrome 1 1 Gerard C.P. Schaafsma
00106818 - PubMed: Bertola 2011 - - - Turkey Turkish - - - - MPS1H Hurler syndrome 1 1 Gerard C.P. Schaafsma
00106819 - PubMed: Bertola 2011 - - - Turkey Turkish - - - - MPS1H Hurler syndrome 1 1 Gerard C.P. Schaafsma
00106820 - PubMed: Bertola 2011 - - - Turkey Turkish - - - - MPS1HS Hurler/Scheie-Scheie syndrome 2 1 Gerard C.P. Schaafsma
00106821 - PubMed: Bertola 2011 - - - Turkey Turkish - - - - MPS1H Hurler syndrome 1 1 Gerard C.P. Schaafsma
00106822 - PubMed: Scott 1992 - - - Italy Italian - - - - MPS1HS Hurler-Scheie syndrome 2 1 Gerard C.P. Schaafsma
00106823 - PubMed: Bertola 2011 - - - Italy Italian - - - - MPS1HS Hurler-Scheie syndrome 1 1 Gerard C.P. Schaafsma
00106824 - PubMed: Bertola 2011 - - - Spain Spanish - - - - MPS1H Hurler syndrome 1 1 Gerard C.P. Schaafsma
00106825 - PubMed: Bertola 2011 - - - Poland Polish - - - - Scheie;MPS1S Scheie syndrome 2 1 Gerard C.P. Schaafsma
00106826 - PubMed: Beesley 2001 - - - Italy Italian - - - - MPS1HS Hurler-Scheie syndrome 2 1 Gerard C.P. Schaafsma
00106827 - PubMed: Scott 1992 - - - Italy Italian - - - - MPS1HS Hurler-Scheie syndrome 2 1 Gerard C.P. Schaafsma
00106828 - PubMed: Bertola 2011 - - - Turkey Turkish - - - - Scheie;MPS1S Scheie syndrome 1 1 Gerard C.P. Schaafsma
00106829 - PubMed: Bertola 2011 - - - Turkey Turkish - - - - MPS1H Hurler syndrome 1 1 Gerard C.P. Schaafsma
00106830 - PubMed: Bunge 1995 - - - Poland Polish - - - - Scheie;MPS1S Scheie syndrome 2 1 Gerard C.P. Schaafsma
00106831 - PubMed: Bunge 1995 - - - Italy Italian - - - - Scheie;MPS1S Scheie syndrome 2 1 Gerard C.P. Schaafsma
00106832 - PubMed: Bertola 2011 - - - Turkey Turkish - - - - MPS1H Hurler syndrome 1 1 Gerard C.P. Schaafsma
00106833 - PubMed: Bunge 1995 - - - Italy Italian - - - - MPS1H Hurler syndrome 1 1 Gerard C.P. Schaafsma
00106834 - PubMed: Bunge 1995 - - - Poland Polish - - - - MPS1H Hurler syndrome 2 1 Gerard C.P. Schaafsma
00106835 - PubMed: Bunge 1995 - - - Spain Spanish - - - - MPS1H Hurler syndrome 2 1 Gerard C.P. Schaafsma
00106836 - PubMed: Bertola 2011 - - - Italy Italian - - - - Scheie;MPS1S Scheie syndrome 2 1 Gerard C.P. Schaafsma
00106837 - PubMed: Bertola 2011 - - - Poland Polish - - - - MPS1H Hurler syndrome 1 1 Gerard C.P. Schaafsma
00106838 - PubMed: Bertola 2011 - - - Italy Italian - - - - MPS1H Hurler syndrome 1 1 Gerard C.P. Schaafsma
00106839 - PubMed: Scott 1992 - - - Spain Spanish - - - - MPS1 Mucopolysaccharidosis type I; MPS I 2 1 Gerard C.P. Schaafsma
00106840 - PubMed: Bertola 2011 - - - Spain Spanish - - - - MPS1HS Hurler-Scheie syndrome 2 1 Gerard C.P. Schaafsma
00106841 - PubMed: Scott 1992 - - - Spain Spanish - - - - MPS1 Mucopolysaccharidosis type I; MPS I 2 1 Gerard C.P. Schaafsma
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