Term Name: developmental and epileptic encephalopathy 49
Synonyms: DEE49, early infantile epileptic encephalopathy 49
Definition: A developmental and epileptic encephalopathy characterized by neonatal onset of seizures, global developmental delay with intellectual disability and lack of speech, hypotonia, spasticity, and coarse facial features that has_material_basis_in homozygous or compound heterozygous mutation in the DENND5A gene on chromosome 11p15.
Ontology: Human Disease [DOID:0080441]   ( DOID:0080441 )

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