developmental and epileptic encephalopathy 30 (DOID:0080465)
Alliance: disease page
Synonyms: DEE30; early infantile epileptic encephalopathy 30
Alt IDs: OMIM:616341
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.