Overview
Paternal uniparental disomy of chromosome X 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
Central hypotonia
Very frequent (80-99%)HP:0001252
Decreased body height
Very frequent (80-99%)HP:0004322
Decreased testicular size
Very frequent (80-99%)HP:0008734
Hypoplastic areolae
Very frequent (80-99%)HP:0100853
Infertility
Very frequent (80-99%)HP:0000789
Low posterior hair line
Very frequent (80-99%)HP:0002162
Mental retardation, mild
Very frequent (80-99%)HP:0001256
Outward turned elbows
Very frequent (80-99%)HP:0002967
Posteriorly angulated ears
Very frequent (80-99%)HP:0000358
Psychomotor retardation, moderate
Very frequent (80-99%)HP:0011343
Shield chest
Very frequent (80-99%)HP:0000914
Short neck
Very frequent (80-99%)HP:0000470
Short penis
Very frequent (80-99%)HP:0000054
Shortened long bones of hand
Very frequent (80-99%)HP:0010049
Wide-spaced nipples
Very frequent (80-99%)HP:0006610
Mental deficiency
Frequent (30-79%)HP:0001249
Psychomotor development deficiency
Frequent (30-79%)HP:0001263
Related Conditions
Quick Facts
- SNOMED CT
- 783718003
- UMLS CUI
- C5191049
- Fully Specified Name
- Paternal uniparental disomy of chromosome X (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 18
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.