Term Name: developmental and epileptic encephalopathy 40
Synonyms: DEE40, early infantile epileptic encephalopathy 40
Definition: A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the GUF1 gene on chromosome 4p12.
Ontology: Human Disease [DOID:0080427]   ( DOID:0080427 )

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