All individuals with variants in gene NDUFAF6

2 entries on 1 page. Showing entries 1 - 2.
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AscendingIndividual ID     

ID_report     

Reference     

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VIP     

Data_av     

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Disease     

Phenotype details     

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Owner     
00143203 - - - F - (Germany) - - 0 - - ? Global developmental delay (HP:0001263); Lower limb hypertonia (HP:0006895); Increased CSF lactate (HP:0002490); Necrotizing encephalopathy (HP:0006976) 1 1 IMGAG
00361901 - - - - - - - - - - - MC1DN, SPG-11 Neuroregression following viral illness, hypotonia, normal deep tendon reflexes 2 1 Anju Shukla
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