The clinical picture characterized by brachydactyly, nail bed hypoplasia, Hirschsprung disease, hypotonia, and epileptiform alterations associated with biochemical alterations such as increased ALP and hyperphosphatasia supported the molecular diagnosis of PIGO defect and defects associated with the synthesis of GPI-anchored glycoproteins: hyperphosphatasia syndrome and intellectual disability type 2 [1]. Here, PIGO is linked to Hirschsprung disease.