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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 Term GPI-anchored genes
APLI ALPL ALPP ALPPL2 CNTN1 FOLR1 GPC6 GPC3 CD59 CNTN2 GPIHBP1 CD55
Hyperphosphatasia x x x x         
High palate      x        
Hypertelorism      x    x     
Muscular hypotonia      x    x x    
Generalized hypotonia         x x    
Polyhydramnios      x        
Feeding difficulties      x        
Camptodactyly      x        
Intellectual disability       x       
Seizures       x     x   
Malar flattening        x      
Epicanthus        x x     
Micrognathia        x      
Depressed nasal bridge        x x     
Wide nasal bridge        x x     
Short neck        x      
Atrial septal defect        x      
Frontal bossing        x      
Short nose        x x     
Tremor           x   
Cleft palate         x     
Coarse facial features         x     
Hepatomegaly         x    x x
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