ring chromosome 11
Findings
No curated finding names ring chromosome 11 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Ring chromosome 11 syndrome is an autosomal anomaly characterized by variable clinical features, including early growth retardation and short stature, microcephaly, developmental delay, some degree of intellectual disability, facial dysmorphism and café-au-lait spots. In some cases, congenital heart disease and endocrine abnormalities have been reported.
Definition from the Mondo Disease Ontology (MONDO:0019906), read 2026-09-29. CC BY 4.0.
Features
21 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.
- Abnormality of the faceHPOHP:0000271
- Frequent (30% to 79% of cases)
- Cafe-au-lait spotHPOHP:0000957
- Frequent (30% to 79% of cases)
- Decreased body weightHPOHP:0004325
- Frequent (30% to 79% of cases)
- Global developmental delayHPOHP:0001263
- Frequent (30% to 79% of cases)
- Intellectual disabilityHPOHP:0001249
- Frequent (30% to 79% of cases)
- MicrocephalyHPOHP:0000252
- Frequent (30% to 79% of cases)
- Short statureHPOHP:0004322
- Frequent (30% to 79% of cases)
- Abnormal heart morphologyHPOHP:0001627
- Occasional (5% to 29% of cases)
- ClinodactylyHPOHP:0030084
- Occasional (5% to 29% of cases)
- Clitoral hypertrophyHPOHP:0008665
- Occasional (5% to 29% of cases)
- CryptorchidismHPOHP:0000028
- Occasional (5% to 29% of cases)
- Delayed speech and language developmentHPOHP:0000750
- Occasional (5% to 29% of cases)
Show the remaining 9
- Growth delayHPOHP:0001510
- Occasional (5% to 29% of cases)
- HirsutismHPOHP:0001007
- Occasional (5% to 29% of cases)
- HypospadiasHPOHP:0000047
- Occasional (5% to 29% of cases)
- HypothyroidismHPOHP:0000821
- Occasional (5% to 29% of cases)
- Intrauterine growth retardationHPOHP:0001511
- Occasional (5% to 29% of cases)
- NephroblastomaHPOHP:0002667
- Occasional (5% to 29% of cases)
Where it sits
Other names
3 names
Resolves to: ring chromosome 11
- Also called
- r(11) syndromeRC11Ring chromosome type 11