Term Name: | developmental and epileptic encephalopathy 38 |
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Synonyms: | DEE38, early infantile epileptic encephalopathy 38 |
Definition: | A developmental and epileptic encephalopathy characterized by onset of seizures between 4 and 7 months of age, severely impaired global development, hypotonia with poor head control, and visual inattention that has_material_basis_in homozygous or compound heterozygous mutation in the ARV1 gene on chromosome 1q42. |
Ontology: | Human Disease [DOID:0080417] ( DOID:0080417 ) |