ring chromosome 14
Findings
No curated finding names ring chromosome 14 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Ring chromosome 14 syndrome is characterized by intellectual deficit, retinal and skin pigmentation disorders, seizures, and dysmorphic features, including flat occiput, epicanthal folds, downward slanting eyes, flat nasal bridge, upturned nostrils, short neck, and large low set ears.
Definition from the Mondo Disease Ontology (MONDO:0014708), read 2026-09-29. CC BY 4.0.
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
28 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.
- Almond-shaped palpebral fissureHPOHP:0007874
- 1 of 1 reported patient
- BlepharophimosisHPOHP:0000581
- 1 of 1 reported patient
- Delayed speech and language developmentHPOHP:0000750
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Depressed nasal ridgeHPOHP:0000457
- 1 of 1 reported patient
- Focal impaired awareness seizureHPOHP:0002384
- 1 of 1 reported patient
- Focal-onset seizureHPOHP:0007359
- 1 of 1 reported patient
- Generalized-onset seizure
Show the remaining 16
- Interictal EEG abnormalityHPOHP:0025373
- Frequent (30% to 79% of cases)
- Intrauterine growth retardationHPOHP:0001511
- Frequent (30% to 79% of cases)
- Motor delayHPOHP:0001270
- Frequent (30% to 79% of cases)
- Postnatal growth retardationHPOHP:0008897
- Frequent (30% to 79% of cases)
- Recurrent infectionsHPOHP:0002719
- Frequent (30% to 79% of cases)
- Secondary microcephalyHPOHP:0005484
- Frequent (30% to 79% of cases)
Where it sits
Other names
3 names
Resolves to: ring chromosome 14
- Also called
- Chromosome 14 Ringring chromosome 14 syndrome, isolated casesRing chromosome type 14