All individuals with variants in gene PDYN

6 entries on 1 page. Showing entries 1 - 6.
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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     
00073125 - ATX506 - M - - (not applicable) - - 0 - - SCA-23 - 1 1 Claire Guissart
00073163 - ATX599 - F - France - - 0 - - SCAR - 1 1 Claire Guissart
00208755 - - - F - Germany - - 0 - - - HP:0003198 (Myopathy); HP:0003457 (EMG abnormality) 1 1 Andreas Laner
00292881 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00292882 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00300630 - - - M - Germany - - 0 - - ? Abnormal hair quantity (HP:0011362); Abnormal eye physiology (HP:0012373); Polyneuropathy (HP:0001271); Bilateral ptosis (HP:0001488); Abnormal peripheral nervous system morphology (HP:0000759); Hypertrichosis (HP:0000998) 1 1 Andreas Laner
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