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ID	DOID:0051088
PURL	http://purl.obolibrary.org/obo/DOID_0051088 Copy Copied!
Name	developmental and epileptic encephalopathy 119
Definition	A developmental and epileptic encephalopathy that is characterized by global developmental delay, impaired intellectual development, microcephaly, autistic behavior, and seizures and that has_material_basis_in heterozygous mutation in the RNU2-2 gene on chromosome 11q12. https://pubmed.ncbi.nlm.nih.gov/40442284/
Xrefs	MIM:621304
Parent Relationships	is_a autosomal dominant disease is_a developmental and epileptic encephalopathy
Subclass Logical Relationships	has material basis in some autosomal dominant inheritance