Term Name: developmental and epileptic encephalopathy 31B
Synonyms: DEE31B
Definition: A developmental and epileptic encephalopathy characterized by early-onset epilepsy, generalized muscular hypotonia, visual impairment, and severe neurodevelopmental delay that has_material_basis_in homozygous mutation in the DNM1 gene on chromosome 9q34.
Ontology: Human Disease [DOID:0070376]   ( DOID:0070376 )

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