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Metadata
ID DOID:0080450
Name developmental and epileptic encephalopathy 17
Definition A developmental and epileptic encephalopathy characterized by onset in the first weeks or months of life of intractable seizures and very poor psychomotor development that has_material_basis_in heterozygous mutation in the GNAO1 gene on chromosome 16q13.
https://www.ncbi.nlm.nih.gov/pubmed/23993195
Xrefs

OMIM:615473

Synonyms

DEE17 [EXACT]

early infantile epileptic encephalopathy 17 [EXACT]

Parent Relationships

is_a developmental and epileptic encephalopathy

is_a autosomal dominant disease

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