Joint Shantou International Eye Centre of Shantou University and The Chinese University of Hong Kong

By gene
  
By phenotype
  



Gene : MPV17
    
OMIM : 137960
    
UniProt : P39210
    
AmiGO : P39210
    
Phenotype : Charcot-Marie-Tooth disease, axonal, type 2EE Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)