Term Name: developmental and epileptic encephalopathy 121
Synonyms:
Definition: A developmental and epileptic encephalopathy that is characterized by neonatal- or infantile-onset epilepsy, global developmental delay or intellectual disability, and death in infancy, childhood, or early adulthood and that has_material_basis_in homozygous mutation in the LGI1 gene on chromosome 10q23.
Ontology: Human Disease [DOID:0051090]   ( DOID:0051090 )

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