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Metadata
ID	DOID:0080449
Name	developmental and epileptic encephalopathy 16
Definition	A developmental and epileptic encephalopathy characterized by seizure onset in the first weeks or months of life, delayed or regression of psychomotor development, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D24 gene on chromosome 16p13. https://www.ncbi.nlm.nih.gov/pubmed/21087195, https://www.ncbi.nlm.nih.gov/pubmed/23526554
Xrefs	OMIM:615338 ORDO:352596
Subsets	DO_rare_slim
Synonyms	DEE16 [EXACT] early infantile epileptic encephalopathy 16 [EXACT]
Parent Relationships	is_a developmental and epileptic encephalopathy is_a autosomal recessive disease