The underlying conditions affecting patients who underwent EGD and were included in the study are as follows: Warburg syndrome (5.8%), Moebius syndrome (11.7%), hypoxic–ischemic encephalopathy (23.5%), spastic tetraparesis with epilepsy (5.8%), spastic tetraparesis without epilepsy (17.6%), Ellis Van Creveld syndrome (5.8%), epileptic encephalopathy due to PIGN gene mutation (11.7%), Edwards syndrome (Trisomy 18) (5.8%), and cerebellar encephalopathy (5.8%). The gene discussed is PIGN; the disease is Spastic tetraparesis.