Overview
Chromosome Xq27.3q28 duplication 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.
Bulbous nose
Very frequent (80-99%)HP:0000414
Cryptorchidism
Very frequent (80-99%)HP:0000028
Decreased activity of gonads
Very frequent (80-99%)HP:0000135
Decreased body height
Very frequent (80-99%)HP:0004322
Decreased testicular size
Very frequent (80-99%)HP:0008734
Decreased volume of lip vermillion
Very frequent (80-99%)HP:0000233
Deep set eye
Very frequent (80-99%)HP:0000490
Disproportionately small hands
Very frequent (80-99%)HP:0200055
High pitched voice
Very frequent (80-99%)HP:0001620
Mental and motor retardation
Very frequent (80-99%)HP:0001263
Mental retardation, mild
Very frequent (80-99%)HP:0001256
Small feet
Very frequent (80-99%)HP:0001773
Undergrowth
Very frequent (80-99%)HP:0001508
Gynaecomastia
Frequent (30-79%)HP:0000771
Intrauterine growth retardation, IUGR
Frequent (30-79%)HP:0001511
Muscular hypotonia
Frequent (30-79%)HP:0001252
Retarded ossification
Frequent (30-79%)HP:0002750
Sparse body hair
Frequent (30-79%)HP:0002231
Truncal obesity
Frequent (30-79%)HP:0001956
Quick Facts
- SNOMED CT
- 718881004
- UMLS CUI
- C4305103
- Fully Specified Name
- Chromosome Xq27.3q28 duplication syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 19
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.