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ID	DOID:0051086
PURL	http://purl.obolibrary.org/obo/DOID_0051086 Copy Copied!
Name	developmental and epileptic encephalopathy 114
Definition	A developmental and epileptic encephalopathy that is characterized by moderately to severely impaired intellectual development, onset of epilepsy within the first 18 months of life, and a choreiform, dystonic, or dyskinetic movement disorder and that has_material_basis_in heterozygous mutation in the SLC32A1 gene on chromosome 20q11. https://pubmed.ncbi.nlm.nih.gov/36073542/
Xrefs	MIM:620774
Parent Relationships	is_a developmental and epileptic encephalopathy is_a autosomal dominant disease
Subclass Logical Relationships	has material basis in some autosomal dominant inheritance