Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Cutaneous photosensitivity
Always present (100%)HP:0000992
Corneal pannus
Occasional (5-29%)HP:0011496
Dry eye syndrome
Occasional (5-29%)HP:0001097
Ataxia
HP:0001251
Choreoathetoid movements
HP:0001266
Corneal inflammation
HP:0000491
Decreased size of cranium
HP:0000252
Defective DNA repair after ultraviolet radiation damage
HP:0003079
Everted eyelid
HP:0000656
Eyelid turned in
HP:0000621
Hyporeflexia
HP:0001265
Intellectual deterioration
HP:0001268
Involuntary muscle stiffness, contraction, or spasm
HP:0001257
Lens opacities
HP:0000518
Mental deficiency
HP:0001249
Nanophthalmos
HP:0000568
Photophobia
HP:0000613
Pink eye
HP:0000509
Poikiloderma
HP:0001029
Sensorineural deafness
HP:0000407
Skin cancer (melanoma)
HP:0002861
Skin degeneration
HP:0004334
Spider veins
HP:0001009
Related Conditions
Quick Facts
- SNOMED CT
- 68637004
- UMLS CUI
- C0268138
- Fully Specified Name
- Xeroderma pigmentosum, group D (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 23
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.