/multiple congenital anomalies-hypotonia-seizures syndrome 1

multiple congenital anomalies-hypotonia-seizures syndrome 1

Rare Disease

MONDO:0013563

Also Known As

PIGN multiple congenital anomalies/dysmorphic syndrome-intellectual disabilityPIGN-CDGcongenital disorder of glycosylation due to PIGN deficiencyinherited GPI anchor-deficiencymultiple congenital anomalies-hypotonia-seizures syndrome 1multiple congenital anomalies-hypotonia-seizures syndrome type 1multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGNPIGN-related inherited GPI deficiencyMCAHS1glycosylphosphatidylinositol biosynthesis defect 3multiple congenital anomalies - hypotonia - seizures syndromemultiple congenital anomalies-hypotonia-seizures syndrome