MCAHS3: multiple congenital anomalies-hypotonia-seizures syndrome 3 ; M: male; F: Female; Y: years; MC: myoclonic seizures; GTCS: generalized tonic-clonic seizures; AS: absence seizures; TS: tonic seizures; GDD: global developmental delay; PDA: patent ductus arteriosus; ASD: atrial septal defect; ALP: alkaline phosphatase; IgA: immunoglobulin A; IgM: immunoglobulin M. Here, PIGT is linked to Global developmental delay.