Term Name: developmental and epileptic encephalopathy 47
Synonyms: DEE47, early infantile 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.
Ontology: Human Disease [DOID:0080425]   (DOID:0080425)

Relationships
is a type of: autosomal dominant disease developmental and epileptic encephalopathy