All individuals with variants in gene MT-ND1

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     
00274156 Pat22 PubMed: Pronicka 2016 - M - Poland - - 0 - - ? 3-MGA in urine; involvement basal ganglia; mitochondrial disease criteria score 8; muscle biopsy 1 1 Johan den Dunnen
00274190 Pat64 PubMed: Pronicka 2016 - F - Poland - - 0 - - ? neonatal onset; involvement basal ganglia; mitochondrial disease criteria score 6; muscle biopsy 1 1 Johan den Dunnen
00359600 - - - M no Italy - - - - - LHON Optic neuropathy HP:0001138 1 1 Daniele Ghezzi
00387644 32 PubMed: Zanolli 2020 individual ID not present in paper, consecutive numbers given ? - Chile - - 0 - - retinal disease - 1 1 LOVD
00387680 79 PubMed: Zanolli 2020 individual ID not present in paper, consecutive numbers given ? - Chile - - 0 - - retinal disease - 1 1 LOVD
00394346 LHON1 PubMed: Thorsteinsson 2021 - ? - Iceland - - 0 - - retinal disease LHON, onset of vision loss 18 y, completely blind 19 y 1 1 LOVD
00394347 LHON2 PubMed: Thorsteinsson 2021 - ? - Iceland - - 0 - - retinal disease LHON, symptoms 23 y 1 1 LOVD
00394348 LHON3 PubMed: Thorsteinsson 2021 - ? - Iceland - - 0 - - retinal disease LHON, symptoms 46 y 1 1 LOVD
00394349 LHON4 PubMed: Thorsteinsson 2021 - ? - Iceland - - 0 - - retinal disease LHON, legally blind, still has scotopic vision 1 1 LOVD
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