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Metadata
ID	DOID:0080465
Name	developmental and 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. https://www.ncbi.nlm.nih.gov/pubmed/25839329
Xrefs	MIM:616341
Synonyms	DEE30 [EXACT] early infantile epileptic encephalopathy 30 [EXACT]
Parent Relationships	is_a developmental and epileptic encephalopathy is_a autosomal dominant disease