All individuals with variants in gene PDHX

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     
00207720 - - - M - - - - 0 - - ? Dystonia (HP:0001332); Paroxysmal dyskinesia (HP:0007166) 1 1 IMGAG
00207758 - - - F - Germany - - 0 - - - HP:0001250 (Seizures) 2 1 Andreas Laner
00207761 - - - F - Germany - - 0 - - - HP:0001250 (Seizures); HP:0007018 (Attention deficit hyperactivity disorder) 2 1 Andreas Laner
00229659 - - - M - - - - 0 - - ? HP:0007183 (Focal T2 hyperintense basal ganglia lesion) 1 1 IMGAG
00229660 - - - M - - - - 0 - - ? HP:0007183 (Focal T2 hyperintense basal ganglia lesion) 1 1 IMGAG
00290379 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 17 Mohammed Faruq
00290380 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 194 Mohammed Faruq
00290381 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 26 Mohammed Faruq
00304302 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 28 Mohammed Faruq
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