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Table 5 A selected list of GPI-anchored genes that when mutated give rise to overlapping phenotypes with CDG patients

From: Significantly different clinical phenotypes associated with mutations in synthesis and transamidase+remodeling glycosylphosphatidylinositol (GPI)-anchor biosynthesis genes

HPO TermGPI-anchored genes
APLIALPLALPPALPPL2CNTN1FOLR1GPC6GPC3CD59CNTN2GPIHBP1CD55
Hyperphosphatasiaxxxx        
High palate    x       
Hypertelorism    x  x    
Muscular hypotonia    x  xx   
Generalized hypotonia       xx   
Polyhydramnios    x       
Feeding difficulties    x       
Camptodactyly    x       
Intellectual disability     x      
Seizures     x   x  
Malar flattening      x     
Epicanthus      xx    
Micrognathia      x     
Depressed nasal bridge      xx    
Wide nasal bridge      xx    
Short neck      x     
Atrial septal defect      x     
Frontal bossing      x     
Short nose      xx    
Tremor         x  
Cleft palate       x    
Coarse facial features       x    
Hepatomegaly       x  xx
Macrocephaly       x    
Patent ductus arteriosus       x    
Short distal phalanx of finger       x    
Small nail       x    
Splenomegaly       x  x 
Anteverted nares       x    
Wide mouth       x    
Splenomegaly       x    
Failure to thrive          x 
Growth delay           x