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Metadata
ID DOID:0080425
Name developmental and epileptic encephalopathy 47
Definition A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of intractable seizures, developmental regression after seizure onset, intellectual disability, and neurologic impairment that has_material_basis_in heterozygous mutation in the FGF12 gene on chromosome 3q28.
https://pubmed.ncbi.nlm.nih.gov/27872899/, https://www.ncbi.nlm.nih.gov/pubmed/27164707
Xrefs

OMIM:617166

Synonyms

DEE47 [EXACT]

early infantile epileptic encephalopathy 47 [EXACT]

Parent Relationships

is_a developmental and epileptic encephalopathy

is_a autosomal dominant disease

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