Term Name: developmental and epileptic encephalopathy 110
Synonyms: DEE110, early infantile epileptic encephalopathy 110
Definition: A developmental and epileptic encephalopathy characterized by profound global developmental delay and hypotonia apparent in infancy followed by onset of seizures in the first months or years of life that has_material_basis_in homozygous or compound heterozygous mutation in the CACNA2D1 gene on chromosome 7q21.
Ontology: Human Disease [DOID:0070395]   ( DOID:0070395 )

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