Term Name: | developmental and epileptic encephalopathy 31B |
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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 ) |