All individuals with variants in gene CDCA7

7 entries on 1 page. Showing entries 1 - 7.
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AscendingIndividual ID     
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VIP     
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Variants     
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Owner     
00038729 - PubMed: Thijssen 2015 2-generation family, unaffected heterozygous carrier parents M yes Turkey - 26y - - - ICF3 facial anomalies (HP:0001999), gastrointestinal problems (chronic diarrhea HP:0002028), infections (otitis, pneumonia); IgG 2.8 g/l, IgA <0.04 g/l, IgM 0.23 g/l; cytogenetic abnormalities include stretching, multiradial configuration 1 1 Peter Thijssen
00038730 - PubMed: Thijssen 2015 2-generation family, unaffected heterozygous carrier parents (suspected consanguineous) F ? France - >17y - - - ICF3 facial anomalies (HP:0001999), gastrointestinal problems (chronic diarrhea HP:0002028), infections (otitis, pneumonia, myocarditis, peritonitis); IgG 0.31 g/l, IgA 0.05 g/l, IgM <0.06g/l 1 1 Peter Thijssen
00038732 - PubMed: Thijssen 2015 2-generation family, unaffected heterozygous carrier parents F yes France - >37y - - - ICF3 no facial anomalies (HP:0001999), gastrointestinal problems (chronic diarrhea HP:0002028), infections (otitis, pneumonia, mastoiditis, meningitis); IgG 2 g/l, IgA 0.27 g/l, IgM 0.25 g/l; cytogenetic abnormalities include stretching 1 1 Peter Thijssen
00038733 - PubMed: Thijssen 2015 male from 2-generation family D (2 affected sibs), unaffected heterozygous carrier parents M yes Turkey - >10y - - - ICF3 facial anomalies (HP:0001999), no gastrointestinal problems, infections (otitis); IgG 2.32 g/l, IgA <0.07 g/l, IgM 0.03 g/l; cytogenetic abnormalities include stretching, breaking, decondensation 1 2 Peter Thijssen
00038734 - PubMed: Thijssen 2015 female from 2-generation family D (2 affected sibs), unaffected heterozygous carrier parents F yes Turkey - >03y - - - ICF3 facial anomalies (HP:0001999), gastrointestinal problems (chronic diarrhea HP:0002028), infections (pneumonia, candida); IgG 1.11 g/l, IgA 0.06 g/l, IgM 0.04 g/l 1 1 Peter Thijssen
00058419 - PubMed: Chinnery 2001, PubMed: Pfeffer 2012 6-generation family, 24 affecteds (15F, 9M) - no United Kingdom (Great Britain) - - - - - MFM9 hereditary myopathy with early respiratory failure 1 24 Claire Chauveau
00334849 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - IMD74 hospitalized after COVID-19 infection, 1 1 Liu Wenbing
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