Multiple congenital anomalies-hypotonia-seizures syndrome 2
Multiple congenital anomalies-hypotonia-seizures syndrome 2
Definition
Any multiple congenital anomalies/dysmorphic syndrome-intellectual disability in which the cause of the disease is a mutation in the PIGA gene.
Also known as DEE20, developmental and epileptic encephalopathy 20, epileptic encephalopathy, early infantile, 20, glycosylphosphatidylinositol biosynthesis defect 4, GPIBD4, MCAHS type 2, MCAHS2, multiple congenital anomalies-hypotonia-seizures syndrome 2, multiple congenital anomalies-hypotonia-seizures syndrome 2, X-linked recessive, multiple congenital anomalies-hypotonia-seizures syndrome type 2, multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGA, PIGA multiple congenital anomalies/dysmorphic syndrome-intellectual disability — per MONDO