disease arises from structure disease arises from alteration in structure chromosome 12 (Human) ring chromosome 12 https://rarediseases.info.nih.gov/diseases/1325/ring-chromosome-12 https://www.malacards.org/card/ring_chromosome_12 GARD:0001325 Ring 12 Ring chromosome type 12 Ring chromosome 12 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype principally characterized by postnatal growth retardation, variable degrees of developmental delay and intellectual disability, microcephaly and facial dysmorphism (incl. epicanthal folds, low-set, cupped ears, prominent nose with flat nasal bridge, high arched palate, micrognathia). Skeletal abnormalities (e.g. pectus excavatum, clinodactyly), congenital heart malformations, cryptorchidism, café-au-lait spots and epilepsy have also been reported. chromosome 12 ring MESH:C538298 Orphanet:1439 UMLS:C0795843 Ring chromosome 12 syndrome MONDO:0015432 MEDGEN:162879 R12 chromosome 12 disorder ring chromosome disorder