Human genes for developmental and epileptic encephalopathy 25
Developmental and epileptic encephalopathy 25 [DOID:0080453]
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.
Synonyms: developmental and epileptic encephalopathy 25, DOID:0080453, DEE25, developmental and epileptic encephalopathy 25, with amelogenesis imperfecta, early infantile epileptic encephalopathy 25 ...