Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Bulbous nasal tip
Frequent (30-79%)HP:0000414
Decreased size of cranium
Frequent (30-79%)HP:0000252
Down-slanting palpebral fissure
Frequent (30-79%)HP:0000494
Dropped arches
Frequent (30-79%)HP:0001763
Low intelligence
Frequent (30-79%)HP:0001249
Multiple palmar creases
Frequent (30-79%)HP:0006114
Nasal hypoplasia
Frequent (30-79%)HP:0003196
Obesity
Frequent (30-79%)HP:0001513
Peripheral hypotonia
Frequent (30-79%)HP:0001252
Psychomotor development deficiency
Frequent (30-79%)HP:0001263
Round, full face
Frequent (30-79%)HP:0000311
Tooth abnormalities
Frequent (30-79%)HP:0000164
Aniridia
Occasional (5-29%)HP:0000526
Biparietal narrowing
Occasional (5-29%)HP:0004422
Blepharophimosis
Occasional (5-29%)HP:0000581
Camptodactyly of feet
Occasional (5-29%)HP:0001836
Cleft of palate
Occasional (5-29%)HP:0000175
Deformity of the skull
Occasional (5-29%)HP:0001363
Ectopic anus
Occasional (5-29%)HP:0004397
Hardening of skin and connective tissue
Occasional (5-29%)HP:0000647
Hearing impairment
Occasional (5-29%)HP:0000365
High arched palate
Occasional (5-29%)HP:0000218
High forehead
Occasional (5-29%)HP:0000348
Increased width of bridge of nose
Occasional (5-29%)HP:0000431
Iris coloboma
Occasional (5-29%)HP:0000612
Large bregma sutures
Occasional (5-29%)HP:0000239
Large head
Occasional (5-29%)HP:0000256
Lens opacities
Occasional (5-29%)HP:0000518
Low posterior hair line
Occasional (5-29%)HP:0002162
Low-set ears
Occasional (5-29%)HP:0000369
Related Conditions
Quick Facts
- SNOMED CT
- 717973004
- UMLS CUI
- C2749873
- Fully Specified Name
- Chromosome 3q29 duplication syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.