mosaic trisomy 14
Findings
No curated finding names mosaic trisomy 14 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Mosaic trisomy 14 is a rare chromosomal disorder in which there are 3 copies (trisomy) of chromosome 14 in some cells of the body, while other cells have the usual two copies. The extent and severity of features in affected individuals can vary. Signs and symptoms that have been most commonly reported include intrauterine growth restriction; failure to to thrive; developmental delay; intellectual disability; distinctive facial characteristics; structural malformations of the heart; and other physical abnormalities. This condition is most often caused by an error in cell division in the egg or sperm cell before conception, or in fetal cells after fertilization. Treatment is directed toward the specific signs and symptoms in each individual.
Definition from the Mondo Disease Ontology (MONDO:0015725), read 2026-09-29. CC BY 4.0.
Features
30 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.
- Abnormal cardiovascular system morphologyHPOHP:0030680
- Very frequent (80% to 99% of cases)
- Abnormality of chromosome segregationHPOHP:0002916
- Very frequent (80% to 99% of cases)
- Failure to thriveHPOHP:0001508
- Very frequent (80% to 99% of cases)
- Frontal bossingHPOHP:0002007
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- High palateHPOHP:0000218
- Very frequent (80% to 99% of cases)
Show the remaining 18
- Anteverted naresHPOHP:0000463
- Frequent (30% to 79% of cases)
- Bilateral single transverse palmar creasesHPOHP:0007598
- Frequent (30% to 79% of cases)
- BlepharophimosisHPOHP:0000581
- Frequent (30% to 79% of cases)
- Cleft palateHPOHP:0000175
- Frequent (30% to 79% of cases)
- CryptorchidismHPOHP:0000028
- Frequent (30% to 79% of cases)
- Ectopic anusHPOHP:0004397
- Frequent (30% to 79% of cases)
Where it sits
- A kind of
Other names
1 name
Resolves to: mosaic trisomy 14
- Also called
- Mosaic trisomy type 14