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Metadata
ID DOID:0080715
Name developmental and epileptic encephalopathy 82
Definition A developmental and epileptic encephalopathy chacterized by onset of seizures in the first year of life, hypotonia, feeding difficulties, severely impaired intellectual development, and global developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the GOT2 gene on chromosome 16q21.
https://pubmed.ncbi.nlm.nih.gov/31422819/
Xrefs

OMIM:618721

Synonyms

DEE82 [EXACT]

early infantile epileptic encephalopathy 82 [EXACT]

Parent Relationships

is_a developmental and epileptic encephalopathy

is_a autosomal recessive disease

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