Overview
Chromosome Xp22.3 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.
Abnormality of chromosome segregation
Very frequent (80-99%)HP:0002916
Decreased body height
Very frequent (80-99%)HP:0004322
Previous menstrual periods stop
Very frequent (80-99%)HP:0000869
Aplasia/Hypoplasia affecting the eye
Frequent (30-79%)HP:0008056
Aplasia/Hypoplasia of the skin
Frequent (30-79%)HP:0008065
Corneal stromal opacity
Frequent (30-79%)HP:0007759
Decreased fertility
Frequent (30-79%)HP:0000144
Low gonadotropins (secondary hypogonadism)
Frequent (30-79%)HP:0000044
Near sighted
Frequent (30-79%)HP:0000545
Polycystic ovary disease
Frequent (30-79%)HP:0000147
Ectopic anus
Occasional (5-29%)HP:0004397
Sacral dimple
Occasional (5-29%)HP:0000960
Quick Facts
- SNOMED CT
- 726733007
- UMLS CUI
- C4512072
- Fully Specified Name
- Chromosome Xp22.3 microdeletion syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 12
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.