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

By gene
  
By phenotype
  



Gene : POMT1
    
OMIM : 607423
    
UniProt : Q9Y6A1
    
AmiGO : Q9Y6A1
    
Phenotype : Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 1 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1