Term Name: | developmental and epileptic encephalopathy 16 |
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Synonyms: | DEE16, early infantile epileptic encephalopathy 16 |
Definition: | A developmental and epileptic encephalopathy characterized by seizure onset in the first weeks or months of life, delayed or regression of psychomotor development, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D24 gene on chromosome 16p13. |
Ontology: | Human Disease [DOID:0080449] ( DOID:0080449 ) |