Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Birth weight less than 10th percentile
Always present (100%)HP:0001518
Cutaneous photosensitivity
Always present (100%)HP:0000992
Defective DNA repair after ultraviolet radiation damage
Always present (100%)HP:0003079
Infantile spasms
Always present (100%)HP:0012469
Lens opacities
Always present (100%)HP:0000518
Abnormally small eyeball
Frequent (30-79%)HP:0000568
Decreased size of cranium
Frequent (30-79%)HP:0000252
Psychomotor development deficiency
Frequent (30-79%)HP:0001263
Ataxia
Occasional (5-29%)HP:0001251
Cavus foot
Occasional (5-29%)HP:0001761
Involuntary muscle stiffness, contraction, or spasm
Occasional (5-29%)HP:0001257
Retarded growth
Occasional (5-29%)HP:0001510
Tremor
Occasional (5-29%)HP:0001337
Related Conditions
Quick Facts
- SNOMED CT
- 36454001
- UMLS CUI
- C0268141
- Fully Specified Name
- Xeroderma pigmentosum, group G (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.