Term Name: developmental and epileptic encephalopathy 5
Synonyms: DEE5, early infantile epileptic encephalopathy 5
Definition: A developmental and epileptic encephalopathy characterized by global developmental delay and onset in the first months of life of tonic seizures or infantile spasms that has_material_basis_in heterozygous mutation in the SPTAN1 gene on chromosome 9q34.
Ontology: Human Disease [DOID:0080438]   ( DOID:0080438 )

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