All individuals with variants in gene EED

9 entries on 1 page. Showing entries 1 - 9.
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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     
00081829 Fam2PatII1/EX0065 PubMed: Imagawa 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Japan Japanese - - - - ? see paper; ... 1 1 Eri Imagawa
00134093 Patient 1 - - F - United States White ? - yes none ? clinically diagnosed with a Weaver-like overgrowth syndrome 1 1 Catherine Spellicy
00134094 Patient 2 - - F - United States - - - yes none - - 1 1 Catherine Spellicy
00164661 Patient 3 - - M ? - - - - - - - - 1 1 Catherine Spellicy
00296443 A1544B PubMed: Cohen 2016 - M - - white - - - - ? see paper; ... 1 1 Johan den Dunnen
00296444 A1477 PubMed: Cohen 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Turkey - - - - - ? see paper; ... 1 1 Johan den Dunnen
00296445 patient PubMed: Cooney 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United States Hispanic - - - - ? see paper; ... 1 1 Johan den Dunnen
00450291 COG0877 PubMed: Tatton-Brown 2017 patient - - United States - - - - - ? overgrowth; moderate intellectual disability; 1 1 Johan den Dunnen
00450292 COG1738 PubMed: Tatton-Brown 2017 patient - - United States - - - - - ? overgrowth head, overgrowth height; severe intellectual disability; 1 1 Johan den Dunnen
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