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. 2020 Feb 4;15:40. doi: 10.1186/s13023-020-1313-0

Table 5.

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

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