Term Name: developmental and epileptic encephalopathy 111
Synonyms:
Definition: A developmental and epileptic encephalopathy that is characterized by early-onset refractory seizures, global developmental delay, hypotonia, impaired gross motor development, impaired intellectual development, and absent speech and that has_material_basis_in homozygous mutation in the DEPDC5 gene on chromosome 22q12.
Ontology: Human Disease [DOID:0051083]   ( DOID:0051083 )

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