DO_rare_slim ring chromosome syndrome ring chromosome 14 syndrome GARD:6072 UMLS_CUI:C2930916 MESH:C535487 UMLS_CUI:C2930916 MIM:616606 MIM:616606 MESH:C535487 SNOMEDCT_US_2025_09_01:702345009 DOID:0070621 NCI:C185638 GARD:6072 ORDO:1440 ORDO:1440 disease_ontology 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. r(14) syndrome r14 syndrome ring 14 ring 14 syndrome ring chromosome 14