All individuals with variants in gene ESCO2

47 entries on 1 page. Showing entries 1 - 47.
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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     
00112160 - PubMed: Vega 2005 - - - Italy - - 0 - - RBS Family 9 1 1 The Parkinson's Institute - Birgitt Schuele
00112161 - PubMed: Gordillo 2008 - - - United States - - 0 - - RBS Family 1 2 1 The Parkinson's Institute - Birgitt Schuele
00112162 - PubMed: Schule 2005 - F - - Hispanic - 0 - - RBS Family 4 1 1 The Parkinson's Institute - Birgitt Schuele
00112163 - PubMed: Gordillo 2008 - - - United States - - 0 - - RBS Family 2 2 1 The Parkinson's Institute - Birgitt Schuele
00112164 - PubMed: Vega 2005 - - - Turkey - - 0 - - RBS Family 15 1 1 The Parkinson's Institute - Birgitt Schuele
00112165 - PubMed: Vega 2005 - - - Colombia - - 0 - - RBS Family 4 1 1 The Parkinson's Institute - Birgitt Schuele
00112166 - PubMed: Vega 2005 - - - Colombia - - 0 - - RBS Family 5 1 1 The Parkinson's Institute - Birgitt Schuele
00112167 - PubMed: Vega 2005 - - - Colombia - - 0 - - RBS Family 7 1 1 The Parkinson's Institute - Birgitt Schuele
00112168 - PubMed: Schule 2005 - F - Germany - - 0 - - SC phocomelia syndrome Family 2 2 1 The Parkinson's Institute - Birgitt Schuele
00112169 - PubMed: Resta 2006 - - - - - - 0 - - RBS case report 1 1 The Parkinson's Institute - Birgitt Schuele
00112170 - PubMed: Vega 2005 - - - Colombia - - 0 - - RBS Family 1 1 1 The Parkinson's Institute - Birgitt Schuele
00112171 - PubMed: Vega 2005 - - - Colombia - - 0 - - RBS Family 2 1 1 The Parkinson's Institute - Birgitt Schuele
00112172 - PubMed: Vega 2005 - - - Colombia - - 0 - - RBS Family 3 1 1 The Parkinson's Institute - Birgitt Schuele
00112173 - PubMed: Vega 2005 - - - Colombia - - 0 - - RBS Family 6 1 1 The Parkinson's Institute - Birgitt Schuele
00112174 - PubMed: Schule 2005 - F - - Caucasian - 0 - - RBS Family 5 2 1 The Parkinson's Institute - Birgitt Schuele
00112175 - PubMed: Schule 2005 - M - - Caucasian - 0 - - SC phocomelia syndrome Family 1 2 1 The Parkinson's Institute - Birgitt Schuele
00112176 - PubMed: Gordillo 2008 - - - Mexico - - 0 - - RBS Family 3 1 2 The Parkinson's Institute - Birgitt Schuele
00112177 - PubMed: Gordillo 2008 - - - Italy - - 0 - - RBS Family 4 2 1 The Parkinson's Institute - Birgitt Schuele
00112178 - - - F - Somalia - - 0 - - RBS - 1 1 The Parkinson's Institute - Birgitt Schuele
00112179 - PubMed: Gordillo 2008 VU1366 - - Tunisia - - 0 - - RBS Family 5 1 1 The Parkinson's Institute - Birgitt Schuele
00112180 - PubMed: Gordillo 2008 ID#3309 - - France - - 0 - - RBS Family 6 1 1 The Parkinson's Institute - Birgitt Schuele
00112181 - - - M - Brazil - - 0 - - RBS - 1 1 The Parkinson's Institute - Birgitt Schuele
00112182 - PubMed: Vega 2005 - - - Turkey - - 0 - - RBS Family 12 1 1 The Parkinson's Institute - Birgitt Schuele
00112183 - PubMed: Vega 2005 - - - Turkey - - 0 - - RBS Family 13 1 1 The Parkinson's Institute - Birgitt Schuele
00112184 - PubMed: Vega 2005 - - - Turkey - - 0 - - RBS Family 14 1 1 The Parkinson's Institute - Birgitt Schuele
00112185 - PubMed: Gordillo 2008 ID#VU1400 - - Netherlands - - 0 - - RBS Family 7 1 1 The Parkinson's Institute - Birgitt Schuele
00112186 - PubMed: Gordillo 2008 ID#3406 - - Turkey - - 0 - - RBS Family 8 1 1 The Parkinson's Institute - Birgitt Schuele
00112187 - PubMed: Gordillo 2008 ID#KAT - - Turkey - - 0 - - RBS Family 9 1 1 The Parkinson's Institute - Birgitt Schuele
00112188 - PubMed: Gordillo 2008 ID#SRSyM1 - - Sudan - - 0 - - RBS Family 10 1 1 The Parkinson's Institute - Birgitt Schuele
00112189 - PubMed: Schulz 2008 - - - Pakistan - - 0 - - RBS case report 1 1 The Parkinson's Institute - Birgitt Schuele
00112190 - PubMed: Gordillo 2008 ID#60749 - - Pakistan - - 0 - - RBS Family 11 1 1 The Parkinson's Institute - Birgitt Schuele
00112191 - - - - - - Indian - 0 - - RBS - 1 1 The Parkinson's Institute - Birgitt Schuele
00112192 - - - - - Germany - - 0 - - ? - 2 1 The Parkinson's Institute - Birgitt Schuele
00112193 - PubMed: Vega 2005 - - - Turkey - - 0 - - RBS Family 11 1 1 The Parkinson's Institute - Birgitt Schuele
00112194 - PubMed: Gordillo 2008 - - - Denmark - - 0 - - RBS Family 12 2 1 The Parkinson's Institute - Birgitt Schuele
00112195 - PubMed: Schule 2005 - M - - African-American - 0 - - SC phocomelia syndrome Family 3 1 1 The Parkinson's Institute - Birgitt Schuele
00112196 - PubMed: Gordillo 2008 ID#3303 - - Turkey - - 0 - - RBS Family 13 1 1 The Parkinson's Institute - Birgitt Schuele
00112197 - PubMed: Gordillo 2008 ID#3314 - - Finland - - 0 - - RBS Family 14 1 1 The Parkinson's Institute - Birgitt Schuele
00112198 - PubMed: Vega 2005 - - - Turkey - - 0 - - RBS Family 10 1 1 The Parkinson's Institute - Birgitt Schuele
00112199 - PubMed: Gordillo 2008 UIM - - Italy - - 0 - - RBS Family 15 1 1 The Parkinson's Institute - Birgitt Schuele
00112200 - PubMed: Vega 2005 - - - Canada - - 0 - - RBS Family 8 1 1 The Parkinson's Institute - Birgitt Schuele
00112201 - PubMed: Gordillo 2008 ID#RIS - - Israel - - 0 - - RBS Family 16 1 1 The Parkinson's Institute - Birgitt Schuele
00132072 1 - - F no Brazil - - 0 - - RBS - 2 1 Karina Silveira
00183239 - - - F yes Iran - >02y 0 - - RBS bilateral radial ray hypoplasia, absent thumbs, bilateral club feet, knee joints stiffness, craniosynostosis, a large frontal hemangioma, craniofacial dysmorphisms (large alae nasi, small nose with deep nasal bridge, arched palate, micrognathia, simple ears, short neck), bilateral glaucoma, hypotonia, neurodevelopmental delay. 1 1 Elisa Adele Colombo
00276054 - - - M - - - - 0 - - ? Microcephaly (HP:0000252); Short stature (HP:0004322); Strabismus (HP:0000486) 1 1 IMGAG
00294624 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00294625 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
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