Term Name: developmental and epileptic encephalopathy 107
Synonyms: DEE107, early infantile epileptic encephalopathy 107
Definition: A developmental and epileptic encephalopathy characterized by onset of seizures in the first months of life, severe global developmental delay, profound intellectual disability, progressive microcephaly, and hypotonia that has_material_basis_in homozygous mutation in the NAPB gene on chromosome 20p11.
Ontology: Human Disease [DOID:0070393]   ( DOID:0070393 )

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