ring chromosome 12
Findings
No curated finding names ring chromosome 12 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0015432), read 2026-09-29. CC BY 4.0.
Features
27 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal facial shapeHPOHP:0001999
- Obligate (100% of cases)
- Global developmental delayHPOHP:0001263
- Obligate (100% of cases)
- Growth delayHPOHP:0001510
- Obligate (100% of cases)
- Abnormal dermatoglyphicsHPOHP:0007477
- Frequent (30% to 79% of cases)
- ClinodactylyHPOHP:0030084
- Frequent (30% to 79% of cases)
- MicrocephalyHPOHP:0000252
- Frequent (30% to 79% of cases)
- Abnormal 5th finger morphologyHPO
Show the remaining 15
- Glanular hypospadiasHPOHP:0000807
- Occasional (5% to 29% of cases)
- HemangiomaHPOHP:0001028
- Occasional (5% to 29% of cases)
- High, narrow palateHPOHP:0002705
- Occasional (5% to 29% of cases)
- HirsutismHPOHP:0001007
- Occasional (5% to 29% of cases)
- HypothyroidismHPOHP:0000821
- Occasional (5% to 29% of cases)
- Low-set earsHPOHP:0000369
- Occasional (5% to 29% of cases)
Where it sits
Other names
1 name
Resolves to: ring chromosome 12
- Also called
- Ring chromosome type 12