/multiple congenital anomalies-hypotonia-seizures syndrome 2

multiple congenital anomalies-hypotonia-seizures syndrome 2

Rare Disease

MONDO:0010466

Also Known As

DEE20GPIBD4MCAHS type 2MCAHS2PIGA multiple congenital anomalies/dysmorphic syndrome-intellectual disabilitydevelopmental and epileptic encephalopathy 20epileptic encephalopathy, early infantile, 20glycosylphosphatidylinositol biosynthesis defect 4multiple congenital anomalies-hypotonia-seizures syndrome 2multiple congenital anomalies-hypotonia-seizures syndrome 2, X-linked recessivemultiple congenital anomalies-hypotonia-seizures syndrome type 2multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGA