ring chromosome 17
Findings
No curated finding names ring chromosome 17 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Ring chromosome 17 syndrome is a rare chromosomal anomaly syndrome, resulting from partial deletion of chromosome 17, characterized by highly variable manifestations, ranging from a severe phenotype which presents with lissencephaly and severe intellectual disability to a milder phenotype that includes short stature, microcephaly, intellectual disability, seizures (that may be pharmacoresistant), café-au-lait spots, retinal flecks and minor facial dysmorphism, depending on the presence or absence of the Miller-Dieker critical region.
Definition from the Mondo Disease Ontology (MONDO:0015433), read 2026-09-29. CC BY 4.0.
Features
18 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.
- Cafe-au-lait spotHPOHP:0000957
- 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)
- Retinal flecksHPOHP:0012045
- Frequent (30% to 79% of cases)
- SeizureHPOHP:0001250
- Frequent (30% to 79% of cases)
- Short statureHPOHP:0004322
- Frequent (30% to 79% of cases)
- ClinodactylyHPO
Show the remaining 6
- LissencephalyHPOHP:0001339
- Occasional (5% to 29% of cases)
- MicrocephalyHPOHP:0000252
- Occasional (5% to 29% of cases)
- MicrognathiaHPOHP:0000347
- Occasional (5% to 29% of cases)
- Specific learning disabilityHPOHP:0001328
- Occasional (5% to 29% of cases)
- Toe syndactylyHPOHP:0001770
- Occasional (5% to 29% of cases)
- Wide nasal bridgeHPOHP:0000431
- Occasional (5% to 29% of cases)
Where it sits
Other names
1 name
Resolves to: ring chromosome 17
- Also called
- Ring chromosome type 17