Term Name: developmental and epileptic encephalopathy 72
Synonyms: DEE72, early infantile epileptic encephalopathy 72
Definition: A developmental and epileptic encephalopathy characterized by onset around 5 months of age of infantile spasms, hypsarrhythmia on EEG, and severely delayed psychomotor development with impaired or absent walking and language skills that has_material_basis_in heterozygous mutation in the NEUROD2 gene on chromosome 17q12.
Ontology: Human Disease [DOID:0112208]   ( DOID:0112208 )

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