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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