Term Name: developmental and epileptic encephalopathy 60
Synonyms: DEE60, early infantile epileptic encephalopathy 60
Definition: A developmental and epileptic encephalopathy characterized by onset of infantile spasms, seizures, or myoclonus in the first months of life, hypsarrhythmia on EEG, and severe global developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the CNPY3 gene on chromosome 6p.
Ontology: Human Disease [DOID:0080432]   ( DOID:0080432 )

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