ring chromosome 9
MONDO:0019905Mondo
Findings
No curated finding names ring chromosome 9 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Ring chromosome 9 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including developmental delay, some degree of intellectual disability, facial dysmorphism, microcephaly, congenital heart anomalies, and variable genital, limb and skeletal anomalies.
Definition from the Mondo Disease Ontology (MONDO:0019905), read 2026-09-29. CC BY 4.0.
Features
15 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.
- Delayed speech and language developmentHPOHP:0000750
- Frequent (30% to 79% of cases)
- Failure to thriveHPOHP:0001508
- Frequent (30% to 79% of cases)
- Global developmental delayHPOHP:0001263
- Frequent (30% to 79% of cases)
- Growth delayHPOHP:0001510
- Frequent (30% to 79% of cases)
- Intellectual disabilityHPOHP:0001249
- Frequent (30% to 79% of cases)
- Long philtrumHPOHP:0000343
- Frequent (30% to 79% of cases)
- MicrocephalyHPOHP:0000252
- Frequent (30% to 79% of cases)
- Thick eyebrowHPOHP:0000574
- Frequent (30% to 79% of cases)
- Wide nasal bridgeHPOHP:0000431
- Frequent (30% to 79% of cases)
- Depigmentation/hyperpigmentation of skinHPOHP:0007483
- Occasional (5% to 29% of cases)
- Feeding difficulties in infancyHPOHP:0008872
- Occasional (5% to 29% of cases)
- HypotoniaHPOHP:0001252
- Occasional (5% to 29% of cases)
Show the remaining 3
- Protruding tongueHPOHP:0010808
- Occasional (5% to 29% of cases)
- ScoliosisHPOHP:0002650
- Occasional (5% to 29% of cases)
- SeizureHPOHP:0001250
- Occasional (5% to 29% of cases)
Where it sits
Other names
3 names
Resolves to: ring chromosome 9
- Also called
- Chromosome 9 RingRing 9Ring chromosome type 9