Multiple congenital anomalies-hypotonia-seizures syndrome 2

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, GPIBD4, MCAHS type 2, MCAHS2, PIGA multiple congenital anomalies/dysmorphic syndrome-intellectual disability, developmental and epileptic encephalopathy 20, epileptic encephalopathy, early infantile, 20, glycosylphosphatidylinositol biosynthesis defect 4

78 clinical trials for this condition and its sub-types.