Term Name:	multiple congenital anomalies-hypotonia-seizures syndrome 2
Synonyms:	developmental and epileptic encephalopathy 20
Definition:	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.
Ontology:	Human Disease [DOID:0080139]   ( DOID:0080139 )