developmental and epileptic encephalopathy 107

Term ID

DOID:0070393

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. (3)

References

• MIM:620033

Ontology

Human Disease   ( DOID:0070393 )