Term Name: developmental and epileptic encephalopathy 38
Synonyms: DEE38, early infantile epileptic encephalopathy 38
Definition: A developmental and epileptic encephalopathy characterized by onset of seizures between 4 and 7 months of age, severely impaired global development, hypotonia with poor head control, and visual inattention that has_material_basis_in homozygous or compound heterozygous mutation in the ARV1 gene on chromosome 1q42.
Ontology: Human Disease [DOID:0080417]   ( DOID:0080417 )

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