Term Name: developmental and epileptic encephalopathy 17
Synonyms: DEE17, early infantile epileptic encephalopathy 17
Definition: A developmental and epileptic encephalopathy characterized by onset in the first weeks or months of life of intractable seizures and very poor psychomotor development that has_material_basis_in heterozygous mutation in the GNAO1 gene on chromosome 16q13.
Ontology: Human Disease [DOID:0080450]   ( DOID:0080450 )

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