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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://www.ncbi.nlm.nih.gov/pubmed/27164707, https://pubmed.ncbi.nlm.nih.gov/27872899/
Xrefs

MIM:617166
Synonyms

DEE47 [EXACT]

early infantile epileptic encephalopathy 47 [EXACT]
Parent Relationships

is_a autosomal dominant disease

is_a developmental and epileptic encephalopathy
Subclass Logical Relationships

has material basis in some autosomal dominant inheritance

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