Term Name: developmental and epileptic encephalopathy 52
Synonyms: DEE52, early infantile epileptic encephalopathy 52
Definition: A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures and global neurological development delay, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the SCN1B gene on chromosome 19q13.
Ontology: Human Disease [DOID:0080455]   ( DOID:0080455 )

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