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Metadata
ID DOID:0112218
Name developmental and epileptic encephalopathy 83
Definition A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of frequent, usually refractory, seizures and profoundly impaired development that has_material_basis_in homozygous or compound heterozygous mutation in UGP2 on chromosome 2p15.
https://pubmed.ncbi.nlm.nih.gov/31820119/
Xrefs

OMIM:618744

Synonyms

DEE83 [EXACT]

early infantile epileptic encephalopathy 83 [EXACT]

Parent Relationships

is_a developmental and epileptic encephalopathy

is_a autosomal recessive disease

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