Term Name: developmental and epileptic encephalopathy 104
Synonyms: DEE104, early infantile epileptic encephalopathy 104
Definition: A developmental and epileptic encephalopathy characterized by developmental delay in the first few months of life and drug-resistant focal and generalized tonic-clonic seizures that has_material_basis_in heterozygous mutation in the ATP6V0A1 on chromosome 17q21.
Ontology: Human Disease [DOID:0070390]   ( DOID:0070390 )

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