Overview
Paternal uniparental disomy of chromosome 5 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 fibular epiphysis morphology
Very frequent (80-99%)HP:0010593
Cognitive delay
Very frequent (80-99%)HP:0001263
Deformational posterior plagiocephaly
Very frequent (80-99%)HP:0011327
Extra kidney
Very frequent (80-99%)HP:0000075
Generalised decreased muscle tone
Very frequent (80-99%)HP:0001290
Hydramnios
Very frequent (80-99%)HP:0001561
Kyphoscoliosis
Very frequent (80-99%)HP:0002751
Large eyes
Very frequent (80-99%)HP:0001090
Multiple epiphyseal dysplasia
Very frequent (80-99%)HP:0002654
Patent ostium secundum
Very frequent (80-99%)HP:0001684
Rhizomelic arm shortening
Very frequent (80-99%)HP:0004991
Schizophrenia
Very frequent (80-99%)HP:0100753
Short lower limbs
Very frequent (80-99%)HP:0006385
Related Conditions
Quick Facts
- SNOMED CT
- 770669004
- UMLS CUI
- C4749377
- Fully Specified Name
- Paternal uniparental disomy of chromosome 5 (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 13
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.