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

By gene
  
By phenotype
  



Gene : PNKP
    
OMIM : 605610
    
UniProt : Q96T60
    
AmiGO : Q96T60
    
Phenotype : Charcot-Marie-Tooth disease, type 2B2 Ataxia-oculomotor apraxia 4 Microcephaly, seizures, and developmental delay