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Metadata
ID	DOID:0112209
Name	developmental and epileptic encephalopathy 73
Definition	A developmental and epileptic encephalopathy characterized by onset in the months of life of refractory seizures, profound developmental delay, failure to thrive, hypotonia, and are unable to walk, speak, or feed properly that has_material_basis_in heterozygous mutation in the RNF13 gene on chromosome 3q25.1. https://pubmed.ncbi.nlm.nih.gov/30595371/
Xrefs	OMIM:618379
Synonyms	DEE73 [EXACT] early infantile epileptic encephalopathy 73 [EXACT]
Parent Relationships	is_a developmental and epileptic encephalopathy is_a autosomal dominant disease