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Metadata
ID	DOID:0080459
Name	developmental and epileptic encephalopathy 12
Definition	A developmental and epileptic encephalopathy characterized by onset of refractory seizures in the first year of life with normal to mild developmental delay before onset of seizures but developmental regression and stagnation after seizure onset that has_material_basis_in homozygous or compound heterozygous mutation in the PLCB1 gene on chromosome 20p12.3. https://pubmed.ncbi.nlm.nih.gov/22690784/, https://www.ncbi.nlm.nih.gov/pubmed/20833646
Xrefs	MIM:613722
Synonyms	DEE12 [EXACT] early infantile epileptic encephalopathy 12 [EXACT]
Parent Relationships	is_a developmental and epileptic encephalopathy is_a autosomal recessive disease