multiple congenital anomalies-hypotonia-seizures syndrome
multiple congenital anomalies-hypotonia-seizures syndrome
Congenital disorder of glycosylation due to PIGN (phosphatidylinositol glycan anchor biosynthesis class N) deficiency
congenital disorder of glycosylation due to pign (phosphatidylinositol glycan anchor biosynthesis class n) deficiency