| Individual ID | 00390566 | 
        
          | Associated disease | MDDG | 
        
          | Phenotype details | congenital muscular dystrophy, mental retardation; normal motor ability; no contractures; intellectual disability; no seizures; no eye involvement; CK level 3571 IU/L; MRI brain nonspecific white matter changes; IHC reduced DAG; EGC normal; UCG normal | 
        
          | Diagnosis/Initial | limb-girdle muscular dystrophy | 
        
          | Inheritance | Familial, autosomal dominant | 
        
          | Diagnosis/Definite | - | 
        
          | Age/Examination | 11m | 
        
          | Age/Diagnosis | - | 
        
          | Age/Onset | 3m | 
        
          | Phenotype/Onset | - | 
        
          | Protein | - | 
        
          | Owner name | Johan den Dunnen | 
        
          | Database submission license | Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International   | 
        
          | Created by | Johan den Dunnen | 
        
          | Date created | 2021-11-10 16:44:31 +01:00 (CET) | 
        
          | Date last edited | N/A |