Term Name: | ring chromosome 20 syndrome |
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Synonyms: | r(20) syndrome, r20 syndrome, ring 20, ring 20 syndrome, ring chromosome 20, ring chromosome 20 epilepsy syndrome |
Definition: | A ring chromosome syndrome characterized by recognizable epileptic phenotype with typical EEG pattern, intellectual disability manifesting after seizure onset in otherwise normally developing children, and behavioral changes that has_material_basis_in chromosome 20 fusion into a ring or ring-like structure. |
Ontology: | Human Disease [DOID:0070622] ( DOID:0070622 ) |