Overview
14q24.1q24.3 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.
Brachydactyly
Frequent (30-79%)HP:0001156
Cardiac anomaly
Frequent (30-79%)HP:0001627
Decreased volume of upper lip
Frequent (30-79%)HP:0000219
Down-slanting palpebral fissure
Frequent (30-79%)HP:0000494
Increased distance between eyes
Frequent (30-79%)HP:0000316
Ligamentous laxity
Frequent (30-79%)HP:0001382
Mental retardation, mild
Frequent (30-79%)HP:0001256
Thumb hypoplasia
Frequent (30-79%)HP:0009778
Atresia of the pulmonary artery
Occasional (5-29%)HP:0004935
Atria septal defect
Occasional (5-29%)HP:0001631
Broad flat nasal bridge
Occasional (5-29%)HP:0000431
Convex bridge of nose
Occasional (5-29%)HP:0000426
Cryptorchidism
Occasional (5-29%)HP:0000028
Ectopic kidney
Occasional (5-29%)HP:0000086
Flat philtrum
Occasional (5-29%)HP:0000319
Increased length of philtrum
Occasional (5-29%)HP:0000343
Intestinal malrotation
Occasional (5-29%)HP:0002566
Limited elbow extension and supination
Occasional (5-29%)HP:0005852
Radial head dislocation
Occasional (5-29%)HP:0003083
Small midface
Occasional (5-29%)HP:0011800
Small nose
Occasional (5-29%)HP:0003196
Truncus arteriosus
Occasional (5-29%)HP:0001660
Unibrow
Occasional (5-29%)HP:0000664
VSD
Occasional (5-29%)HP:0001629
Quick Facts
- SNOMED CT
- 773494008
- UMLS CUI
- C4750911
- Fully Specified Name
- 14q24.1q24.3 microdeletion syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 24
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.