Subtype of: Multiple congenital anomalies · Multiple congenital anomalies-hypotonia-seizures syndrome

Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
Multiple congenital anomalies-hypotonia-seizures syndrome 1	MONDO_0013563	PIGN	Causal	21493957 24253414 24852103 26364997 26394714 26419326 27038415 27300081 27604308 29096607 29330547 32585529 33193741 33966742 34051595 35468813 35812661 36322149 36363484	ClinGen, Open Targets	Glycosylphosphatidylinositol (GPI)-anchor biosynthesis Metabolic pathways Synthesis of glycosylphosphatidylinositol (GPI)

Multiple congenital anomalies-hypotonia-seizures syndrome 1