Term Name: developmental and epileptic encephalopathy 99
Synonyms: DEE99, early infantile epileptic encephalopathy 99
Definition: A developmental and epileptic encephalopathy characterized by onset of seizures in early childhood that has_material_basis_in heterozygous mutation in the ATP1A3 gene on chromosome 19q13.
Ontology: Human Disease [DOID:0070385]   ( DOID:0070385 )

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