Overview
5p partial trisomy 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.
Abnormal metacarpal morphology
Very frequent (80-99%)HP:0005916
Abnormality of chromosome segregation
Very frequent (80-99%)HP:0002916
Decreased body height
Very frequent (80-99%)HP:0004322
Dilated cerebral ventricle
Very frequent (80-99%)HP:0002119
Eye drop
Very frequent (80-99%)HP:0000508
Frontal protuberance
Very frequent (80-99%)HP:0002007
Hypoplasia of penis
Very frequent (80-99%)HP:0008736
Increased distance between eyes
Very frequent (80-99%)HP:0000316
Increased size of skull
Very frequent (80-99%)HP:0000256
Mental retardation, severe
Very frequent (80-99%)HP:0010864
Narrow head shape
Very frequent (80-99%)HP:0000268
Obesity
Very frequent (80-99%)HP:0001513
Prominent ear
Very frequent (80-99%)HP:0000411
Psychomotor regression
Very frequent (80-99%)HP:0002376
Renal hypoplasia/aplasia
Very frequent (80-99%)HP:0008678
Round facies
Very frequent (80-99%)HP:0000311
Scoliosis
Very frequent (80-99%)HP:0002650
Related Conditions
Quick Facts
- SNOMED CT
- 74008005
- UMLS CUI
- C0812464
- Fully Specified Name
- Partial trisomy of short arm of chromosome 5 (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 17
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.