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

By gene
  
By phenotype
  



Gene : HGSNAT
    
OMIM : 610453
    
UniProt : Q68CP4
    
AmiGO : Q68CP4
    
Phenotype : Mucopolysaccharidosis type IIIC (Sanfilippo C) Retinitis pigmentosa 73