developmental and epileptic encephalopathy 31B (DOID:0070376)
Alliance: disease page
Synonyms: DEE31B
Alt IDs: OMIM:620352
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.