distal trisomy 18q
MONDO:0015741Mondo
Findings
No curated finding names distal trisomy 18q yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
31 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 dental morphologyHPOHP:0006482
- Very frequent (80% to 99% of cases)
- Abnormal hair patternHPOHP:0010720
- Very frequent (80% to 99% of cases)
- Anteverted naresHPOHP:0000463
- Very frequent (80% to 99% of cases)
- Carious teethHPOHP:0000670
- Very frequent (80% to 99% of cases)
- Cognitive impairmentHPOHP:0100543
- Very frequent (80% to 99% of cases)
- CryptorchidismHPOHP:0000028
- Very frequent (80% to 99% of cases)
- DolichocephalyHPOHP:0000268
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- MicrognathiaHPOHP:0000347
- Very frequent (80% to 99% of cases)
- Posteriorly rotated earsHPOHP:0000358
- Very frequent (80% to 99% of cases)
- Progressive intervertebral space narrowingHPOHP:0004622
- Very frequent (80% to 99% of cases)
- Prominent nasal bridgeHPOHP:0000426
- Very frequent (80% to 99% of cases)
Show the remaining 19
- Round faceHPOHP:0000311
- Very frequent (80% to 99% of cases)
- Short neckHPOHP:0000470
- Very frequent (80% to 99% of cases)
- Short noseHPOHP:0003196
- Very frequent (80% to 99% of cases)
- Thickened nuchal skin foldHPOHP:0000474
- Very frequent (80% to 99% of cases)
- Triangular faceHPOHP:0000325
- Very frequent (80% to 99% of cases)
- Abnormal cardiovascular system morphologyHPOHP:0030680
- Frequent (30% to 79% of cases)
Where it sits
Other names
4 names
Resolves to: distal trisomy 18q
- Also called
- distal duplication 18qdistal trisomy type 18qtelomeric duplication 18qtrisomy 18qter