ring chromosome 19
Findings
No curated finding names ring chromosome 19 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Ring chromosome 19 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype that may range from normal to patients with profound intellectual disability, developmental delay, learning disability (esp. speech) and mild dysmorphism (incl. micro/macrocephaly, prominent forehead, low-set and posteriorly rotated ears, hypertelorism, high nasal bridge, prominent philtrum, retro/micrognathia). Mild hypotonia and autistic-like mannerisms (e.g. hand opening and closing, head banging) may also be associated. Other anomalies, such as cutis laxa, hearing loss, syndactyly, digital hypoplasia, and talipes equinovarus, have also been reported.
Definition from the Mondo Disease Ontology (MONDO:0015435), read 2026-09-29. CC BY 4.0.
Features
16 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.
- Autistic behaviorHPOHP:0000729
- Occasional (5% to 29% of cases)
- Cutis laxaHPOHP:0000973
- Occasional (5% to 29% of cases)
- Deep philtrumHPOHP:0002002
- Occasional (5% to 29% of cases)
- Delayed gross motor developmentHPOHP:0002194
- Occasional (5% to 29% of cases)
- Global developmental delayHPOHP:0001263
- Occasional (5% to 29% of cases)
- Growth delayHPOHP:0001510
- Occasional (5% to 29% of cases)
- Hearing impairment
Show the remaining 4
- Posteriorly rotated earsHPOHP:0000358
- Occasional (5% to 29% of cases)
- Prominent foreheadHPOHP:0011220
- Occasional (5% to 29% of cases)
- Prominent nasal bridgeHPOHP:0000426
- Occasional (5% to 29% of cases)
- Talipes equinovarusHPOHP:0001762
- Occasional (5% to 29% of cases)
Where it sits
Other names
1 name
Resolves to: ring chromosome 19
- Also called
- Ring chromosome type 19