distal trisomy 14q
MONDO:0015726Mondo
Findings
No curated finding names distal trisomy 14q yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
10 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.
- Abnormality of chromosome segregationHPOHP:0002916
- Very frequent (80% to 99% of cases)
- Cognitive impairmentHPOHP:0100543
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
- Abnormal aortic morphologyHPOHP:0001679
- Frequent (30% to 79% of cases)
- Abnormal lung lobationHPOHP:0002101
- Frequent (30% to 79% of cases)
- Abnormality of the upper urinary tractHPOHP:0010935
- Frequent (30% to 79% of cases)
- Aplasia/Hypoplasia of the corpus callosumHPOHP:0007370
- Frequent (30% to 79% of cases)
- GlaucomaHPOHP:0000501
- Frequent (30% to 79% of cases)
- Hearing impairmentHPOHP:0000365
- Frequent (30% to 79% of cases)
- Patent ductus arteriosusHPOHP:0001643
- Frequent (30% to 79% of cases)
Where it sits
Other names
4 names
Resolves to: distal trisomy 14q
- Also called
- distal duplication 14qdistal trisomy type 14qtelomeric duplication 14qtrisomy 14qter