Term Name:	developmental and epileptic encephalopathy 122
Synonyms:
Definition:	A developmental and epileptic encephalopathy that is characterized by infantile hypotonia, severe neurodevelopmental delay, intractable seizures, and distinct dysmorphic features and that has_material_basis_in homozygous mutation in the MDGA2 gene on chromosome 14q21.
Ontology:	Human Disease [DOID:0051091]   ( DOID:0051091 )