Overview
20p12.3 microdeletion syndrome is a disorder.
Auto-generated from clinical reference data. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Cognitive delay
Very frequent (80-99%)HP:0001263
Increased distance between eyes
Very frequent (80-99%)HP:0000316
Decreased body height
Frequent (30-79%)HP:0004322
Down-slanting palpebral fissure
Frequent (30-79%)HP:0000494
Hypotrophic malar bone
Frequent (30-79%)HP:0000272
Increased size of skull
Frequent (30-79%)HP:0000256
Narrow mouth
Frequent (30-79%)HP:0000160
Palpebronasal fold
Frequent (30-79%)HP:0000286
Retrusion of upper jaw bones
Frequent (30-79%)HP:0000327
Wolff-Parkinson-White syndrome
Frequent (30-79%)HP:0001716
Atria septal defect
Occasional (5-29%)HP:0001631
Broad bone of big toe
Occasional (5-29%)HP:0010059
Broad flat nasal bridge
Occasional (5-29%)HP:0000431
Broad thumbs
Occasional (5-29%)HP:0011304
Concave bridge of nose
Occasional (5-29%)HP:0005280
Dilated cerebral ventricle
Occasional (5-29%)HP:0002119
Hyperplasia of cheeks
Occasional (5-29%)HP:0000293
Increased length of philtrum
Occasional (5-29%)HP:0000343
Microtia
Occasional (5-29%)HP:0008551
Pectus carinatum
Occasional (5-29%)HP:0000768
Peripheral hypotonia
Occasional (5-29%)HP:0001252
Seizures
Occasional (5-29%)HP:0001250
Thickened helices
Occasional (5-29%)HP:0000391
Quick Facts
- SNOMED CT
- 719650004
- UMLS CUI
- C4304539
- Fully Specified Name
- 20p12.3 microdeletion syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 23
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.