_:vb50940475 . . _:vb50940476 . . "disease_ontology"^^ . _:vb50940476 . _:vb50940476 . "multiple congenital anomalies-hypotonia-seizures syndrome 2"@en . _:vb50940476 . "DOID:0080466"^^ . _:vb50940475 . _:vb50940475 . "DOID:0080139"^^ . . "developmental and epileptic encephalopathy 20"^^ . "early infantile epileptic encephalopathy 20"@en . "GARD:12777"^^ . . "OMIM:300868"^^ . "ORDO:300496"^^ . "A multiple congenital anomalies-hypotonia-seizures syndrome that is characterized by X-linked recessive inheritance of dysmorphic features, neonatal hypotonia, myoclonic seizures and variable abnormalities involving the central nervous, cardiac, and urinary systems that has_material_basis_in mutation in the PIGA gene on chromosome Xp22."^^ . _:vb50940476 . _:vb50940475 . "glycosylphosphatidylinositol biosynthesis defect 4"@en . _:vb50940475 .