All individuals with variants in gene HSD17B4

69 entries on 1 page. Showing entries 1 - 69.
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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     
00000076 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00056385 - PubMed: Demain 2016, Journal: Demain 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F no United Kingdom (Great Britain) Brazilian - 0 - - PRLTS see paper; ... 2 1 Leigh Demain
00073126 - ATX107 - F - France - - 0 - - PRLTS - 2 1 Claire Guissart
00087080 - PubMed: Ahmed 2015, Journal: Ahmed 2015 5-generation family, 3 affected sibs (F, 2M), unaffected heterozygous carrier parents F;M - Saudi Arabia - - 0 - - PRLTS see paper; profound hearing loss, brain atrophy, lower limb spasticity in early childhood, ... 2 3 Johan den Dunnen
00274164 Pat30 PubMed: Pronicka 2016 2-generation family, 2 affected brothers F - Poland - - 0 - - ? deceased; neonatal onset; mitochondrial disease criteria score 2; muscle biopsy 2 2 Johan den Dunnen
00282832 - PubMed: Ferdinandusse 2006 - - - - - - 0 - - DBPD - 1 1 LOVD-team, but with Curator vacancy
00282833 - PubMed: Ferdinandusse 2006 - - - - - - 0 - - DBPD - 1 1 LOVD-team, but with Curator vacancy
00282834 - PubMed: van Grunsven 1999, PubMed: Ferdinandusse 2006, PubMed: van Grunsven 1998 - - - - - - 0 - - DBPD - 1 1 LOVD-team, but with Curator vacancy
00282835 - PubMed: Ferdinandusse 2006 - - - - - - 0 - - DBPD - 1 1 LOVD-team, but with Curator vacancy
00282836 - PubMed: van Grunsven 1999 - - - - - - 0 - - DBPD - 1 1 LOVD-team, but with Curator vacancy
00282837 - PubMed: Sawyer 2014 - - - - - - 0 - - DBPD - 1 1 LOVD-team, but with Curator vacancy
00282838 - PubMed: Ferdinandusse 2006 - - - - - - 0 - - DBPD - 1 1 LOVD-team, but with Curator vacancy
00282839 - PubMed: McMillan 2012, PubMed: Ferdinandusse 2006 - - - - - - 0 - - DBPD - 1 1 LOVD-team, but with Curator vacancy
00282840 - PubMed: Ferdinandusse 2006 - - - - - - 0 - - DBPD - 1 1 LOVD-team, but with Curator vacancy
00282841 - PubMed: Ferdinandusse 2006 - - - - - - 0 - - DBPD - 1 1 LOVD-team, but with Curator vacancy
00282842 - PubMed: Ferdinandusse 2006 - - - - - - 0 - - DBPD - 1 1 LOVD-team, but with Curator vacancy
00282843 - PubMed: Paton 2002, PubMed: Xiong 2015 - - - - - - 0 - - DBPD - 1 1 LOVD-team, but with Curator vacancy
00282844 - PubMed: Ferdinandusse 2006 - - - - - - 0 - - ? - 1 1 LOVD-team, but with Curator vacancy
00282845 - PubMed: Ferdinandusse 2006, PubMed: Xiong 2015 - - - - - - 0 - - DBPD - 1 1 LOVD-team, but with Curator vacancy
00282846 - PubMed: Nakano 2001, PubMed: Ferdinandusse 2006, PubMed: Xiong 2015 - - - - - - 0 - - DBPD - 1 1 LOVD-team, but with Curator vacancy
00282847 - PubMed: Richards 2015 - - - - - - 0 - - - - 1 1 LOVD-team, but with Curator vacancy
00282848 - PubMed: Ferdinandusse 2006 - - - - - - 0 - - DBPD - 1 1 LOVD-team, but with Curator vacancy
00282849 - PubMed: Ferdinandusse 2006, PubMed: Xiong 2015 - - - - - - 0 - - DBPD - 1 1 LOVD-team, but with Curator vacancy
00282850 - PubMed: van Grunsven 1999 - - - - - - 0 - - DBPD - 1 1 LOVD-team, but with Curator vacancy
00282851 - PubMed: Ferdinandusse 2006 - - - - - - 0 - - DBPD - 1 1 LOVD-team, but with Curator vacancy
00282852 - PubMed: Ferdinandusse 2006 - - - - - - 0 - - DBPD - 1 1 LOVD-team, but with Curator vacancy
00282853 - PubMed: Ferdinandusse 2006 - - - - - - 0 - - DBPD - 1 1 LOVD-team, but with Curator vacancy
00282854 - PubMed: Richards 2015 - - - - - - 0 - - - - 1 1 LOVD-team, but with Curator vacancy
00282855 - PubMed: Möller 2001 - - - - - - 0 - - DBPD - 1 1 LOVD-team, but with Curator vacancy
00282856 - PubMed: Lieber 2014 - - - - - - 0 - - DBPD - 1 1 LOVD-team, but with Curator vacancy
00282857 - PubMed: Pierce 2010, PubMed: Fiumara 2004, PubMed: McCarthy 1985 - - - - - - 0 - - PRLTS - 1 1 LOVD-team, but with Curator vacancy
00282858 - PubMed: Möller 2001 - - - - - - 0 - - DBPD - 1 1 LOVD-team, but with Curator vacancy
00282859 - PubMed: Ferdinandusse 2006, PubMed: Xiong 2015 - - - - - - 0 - - DBPD - 1 1 LOVD-team, but with Curator vacancy
00282860 - PubMed: Ferdinandusse 2006 - - - - - - 0 - - DBPD - 1 1 LOVD-team, but with Curator vacancy
00282861 - PubMed: Ferdinandusse 2006 - - - - - - 0 - - DBPD - 1 1 LOVD-team, but with Curator vacancy
00282862 - PubMed: Ferdinandusse 2006 - - - - - - 0 - - DBPD - 1 1 LOVD-team, but with Curator vacancy
00282863 - PubMed: Ferdinandusse 2006 - - - - - - 0 - - DBPD - 1 1 LOVD-team, but with Curator vacancy
00282864 - PubMed: Ferdinandusse 2006 - - - - - - 0 - - DBPD - 1 1 LOVD-team, but with Curator vacancy
00282865 - PubMed: Ferdinandusse 2006, PubMed: Xiong 2015 - - - - - - 0 - - DBPD - 1 1 LOVD-team, but with Curator vacancy
00282866 - PubMed: Ferdinandusse 2006 - - - - - - 0 - - DBPD - 1 1 LOVD-team, but with Curator vacancy
00282867 - PubMed: Ferdinandusse 2006, PubMed: Xiong 2015 - - - - - - 0 - - DBPD - 1 1 LOVD-team, but with Curator vacancy
00282868 - PubMed: Bell 2011, PubMed: Xiong 2015 - - - - - - 0 - - DBPD - 1 1 LOVD-team, but with Curator vacancy
00282869 - PubMed: Ferdinandusse 2006 - - - - - - 0 - - DBPD - 1 1 LOVD-team, but with Curator vacancy
00282870 - PubMed: van Grunsven 1999 - - - - - - 0 - - DBPD - 1 1 LOVD-team, but with Curator vacancy
00282871 - PubMed: Ferdinandusse 2006 - - - - - - 0 - - DBPD - 1 1 LOVD-team, but with Curator vacancy
00282872 - PubMed: Ferdinandusse 2006 - - - - - - 0 - - DBPD - 1 1 LOVD-team, but with Curator vacancy
00282873 - PubMed: Ferdinandusse 2006, PubMed: Tsuchida 2012 - - - - - - 0 - - DBPD - 1 1 LOVD-team, but with Curator vacancy
00282874 - - - - - - - - 0 - - DBPD - 1 1 LOVD-team, but with Curator vacancy
00282875 - PubMed: Ferdinandusse 2006, PubMed: Tsuchida 2012 - - - - - - 0 - - DBPD - 1 1 LOVD-team, but with Curator vacancy
00282876 - PubMed: Ferdinandusse 2006, PubMed: Tsuchida 2012 - - - - - - 0 - - DBPD - 1 1 LOVD-team, but with Curator vacancy
00282877 - PubMed: van Grunsven 1999, PubMed: Tsuchida 2012 - - - - - - 0 - - DBPD - 1 1 LOVD-team, but with Curator vacancy
00282878 - PubMed: van Grunsven 1999, PubMed: Ferdinandusse 2006, PubMed: Tsuchida 2012 - - - - - - 0 - - DBPD - 1 1 LOVD-team, but with Curator vacancy
00282879 - PubMed: Ferdinandusse 2006, PubMed: Tsuchida 2012 - - - - - - 0 - - DBPD - 1 1 LOVD-team, but with Curator vacancy
00282880 - PubMed: Ferdinandusse 2006, PubMed: Tsuchida 2012 - - - - - - 0 - - DBPD - 1 1 LOVD-team, but with Curator vacancy
00282881 - PubMed: Ferdinandusse 2006, PubMed: Tsuchida 2012 - - - - - - 0 - - DBPD - 1 1 LOVD-team, but with Curator vacancy
00282882 - PubMed: Sawyer 2014 - - - - - - 0 - - DBPD - 1 1 LOVD-team, but with Curator vacancy
00282883 - PubMed: Lines 2014 - - - - - - 0 - - deafness gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance 1 1 LOVD-team, but with Curator vacancy
00282884 - PubMed: Shaheen 2011 - - - - - - 0 - - PBD - 1 1 LOVD-team, but with Curator vacancy
00282885 - PubMed: McMillan 2012, PubMed: Ferdinandusse 2006, PubMed: Tsuchida 2012 - - - - - - 0 - - DBPD - 1 1 LOVD-team, but with Curator vacancy
00282886 - PubMed: Mizumoto 2012 - - - - - - 0 - - DBPD - 1 1 LOVD-team, but with Curator vacancy
00282887 - PubMed: Ferdinandusse 2006, PubMed: Tsuchida 2012 - - - - - - 0 - - DBPD - 1 1 LOVD-team, but with Curator vacancy
00282888 - PubMed: Ferdinandusse 2006, PubMed: Tsuchida 2012 - - - - - - 0 - - DBPD - 1 1 LOVD-team, but with Curator vacancy
00282889 - PubMed: Ferdinandusse 2006, PubMed: Tsuchida 2012 - - - - - - 0 - - DBPD - 1 1 LOVD-team, but with Curator vacancy
00282890 - PubMed: Lines 2014, PubMed: Sawyer 2014 - - - - - - 0 - - DBPD - 1 1 LOVD-team, but with Curator vacancy
00282891 - PubMed: Pierce 2010, PubMed: Xiong 2015 - - - - - - 0 - - PRLTS - 1 1 LOVD-team, but with Curator vacancy
00282892 - PubMed: Mizumoto 2012 - - - - - - 0 - - DBPD - 1 1 LOVD-team, but with Curator vacancy
00282893 - PubMed: Ferdinandusse 2006, PubMed: Xiong 2015 - - - - - - 0 - - DBPD - 1 1 LOVD-team, but with Curator vacancy
00282894 - PubMed: Shaheen 2011 - - - - - - 0 - - PBD - 1 1 LOVD-team, but with Curator vacancy
00293704 - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - ? - 1 5 Mohammed Faruq
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