chromosome 4Q32.1-q32.2 triplication syndrome
MONDO:0013319Mondo
Findings
No curated finding names chromosome 4Q32.1-q32.2 triplication syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
41 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.
- Global developmental delayHPOHP:0001263
- 4 of 4 reported patients
- Intellectual disabilityHPOHP:0001249
- 4 of 4 reported patients
- Low-set earsHPOHP:0000369
- 4 of 4 reported patients
- MicrotiaHPOHP:0008551
- 4 of 4 reported patients
- Short noseHPOHP:0003196
- 4 of 4 reported patients
- Wide nasal bridgeHPOHP:0000431
- 4 of 4 reported patients
- Hypoplasia of the zygomatic boneHPOHP:0010669
- 3 of 4 reported patients
- MacrocephalyHPOHP:0000256
- 3 of 4 reported patients
- Narrow palpebral fissureHPOHP:0045025
- 3 of 4 reported patients
- Short columellaHPOHP:0002000
- 3 of 4 reported patients
- Short philtrumHPOHP:0000322
- 3 of 4 reported patients
- Frontal bossingHPOHP:0002007
- 5 of 8 reported patients
Show the remaining 29
- Aganglionic megacolonHPOHP:0002251
- 2 of 4 reported patients
- AutismHPOHP:0000717
- 1 of 4 reported patients
- Autistic behaviorHPOHP:0000729
- 1 of 4 reported patients
- Brain atrophyHPOHP:0012444
- 1 of 4 reported patients
- ConstipationHPOHP:0002019
- 1 of 4 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 1 of 4 reported patients