All individuals with variants in gene FLAD1

12 entries on 1 page. Showing entries 1 - 12.
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00230572 patient PubMed: Puusepp 2019, Journal: Puusepp 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Estonia - >01y03m 0 - - LSMFLAD - 2 1 Sander Pajusalu
00230646 Fam1 PubMed: Olsen 2016 2-generation family, affectedsister/brother, unaffected heterozygous carrier parents F;M yes - - - 0 - - MADD see paper; … 1 2 Johan den Dunnen
00230647 Fam2 PubMed: Olsen 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F no - - - 0 - - MADD see paper; … 2 1 Johan den Dunnen
00230648 Fam3 PubMed: Olsen 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F no - - - 0 - - MADD see paper; … 2 1 Johan den Dunnen
00230649 Fam4 PubMed: Olsen 2016 2-generation family, 3 affected sibs (2F, M), unaffected heterozygous carrier parents F;M yes - - - 0 - - MADD see paper; … 1 3 Johan den Dunnen
00230650 Fam5 PubMed: Olsen 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes - - - 0 - - MADD see paper; … 1 1 Johan den Dunnen
00230651 Fam6 PubMed: Olsen 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F no - - - 0 - - MADD see paper; … 3 1 Johan den Dunnen
00230652 Fam7 PubMed: Olsen 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes - - - 0 - - MADD see paper; … 1 1 Johan den Dunnen
00230653 Pat30 PubMed: Taylor 2014, DB Barth Syndrome Foundation 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Turkey - 00y08m 0 - - MYOP see paper; ..., lipid storage myopathy; 4m-respiratory insufficiency, lipid myopathy, decreased activities of mitochondrial complexes I and IV; 8m-died 1 1 Johan den Dunnen
00296597 Pat30 PubMed: Kemp 2011, PubMed: Taylor 2014 - M yes Turkey - 8m 0 - - ? deceased; muscle affected; central nervous system not affected; heart not affected; liver not affected; respiratory insufficiency 1 1 Johan den Dunnen
00311076 - - - F no Korea, South (Republic) - - 0 - riboflavin MADD - 1 1 Yun Jeong
00311085 patient PubMed: Ryder 2018 - M - - - - 0 - - ? see paper; ... 1 1 Johan den Dunnen
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