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

By gene
  
By phenotype
  



Gene : HACE1
    
OMIM : 610876
    
UniProt : Q8IYU2
    
AmiGO : Q8IYU2
    
Phenotype : Spastic paraplegia and psychomotor retardation with or without seizures