Term Name:	developmental and epileptic encephalopathy 30
Synonyms:	DEE30, early infantile epileptic encephalopathy 30
Definition:	A developmental and epileptic encephalopathy characterized by onset in the first few months of life of refractory seizures andseverely impaired or absent developmental progress that has_material_basis_in heterozygous mutation in the SIK1 gene on chromosome 21q22.
Ontology:	Human Disease [DOID:0080465]   ( DOID:0080465 )