Term Name: developmental and epileptic encephalopathy 31A
Synonyms: DEE31, DEE31A, developmental and epileptic encephalopathy 31, early infantile epileptic encephalopathy 31
Definition: A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of refractory seizures and global developmental delay from early infancy that has_material_basis_in heterozygous mutation in the DNM1 gene on chromosome 9q34.
Ontology: Human Disease [DOID:0080437]   ( DOID:0080437 )

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