Term Name: developmental and epileptic encephalopathy 25
Synonyms: DEE25, developmental and epileptic encephalopathy 25, with amelogenesis imperfecta, early infantile epileptic encephalopathy 25
Definition: A developmental and epileptic encephalopathy characterized by onset in early infancy of refractory seizures, global developmental delay with intellectual disability, persistent neurologic symptoms, and dental anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the SLC13A5 gene on chromosome 17p13.
Ontology: Human Disease [DOID:0080453]   ( DOID:0080453 )

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