Term Name: | ring chromosome 14 syndrome |
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Synonyms: | r(14) syndrome, r14 syndrome, ring 14, ring 14 syndrome, ring chromosome 14 |
Definition: | A ring chromosome syndrome characterized by early-onset epilepsy, developmental delay with mental retardation and poor speech, microcephaly, and dysmorphic facial features that has_material_basis_in chromosome 14 fusion into a ring or ring-like structure. |
Ontology: | Human Disease [DOID:0070621] ( DOID:0070621 ) |