Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Blue irides
Frequent (30-79%)HP:0000635
Freckling
Frequent (30-79%)HP:0001480
Generalised hypopigmentation of hair
Frequent (30-79%)HP:0011358
Ginger hair colour
Frequent (30-79%)HP:0002297
Hypopigmentation of the skin
Frequent (30-79%)HP:0001010
Involuntary, rapid, rhythmic eye movements
Frequent (30-79%)HP:0000639
Iris hypopigmentation
Frequent (30-79%)HP:0007730
Blonde eyebrow
Occasional (5-29%)HP:0002226
Blonde eyelashes
Occasional (5-29%)HP:0002227
Congenital dermal melanocytosis
Occasional (5-29%)HP:0100814
Lack of skin coloration
Occasional (5-29%)HP:0200098
Optic nerve misrouting
Occasional (5-29%)HP:0025551
Squint
Occasional (5-29%)HP:0000486
Albinism
HP:0001022
Partial absent skin pigmentation
HP:0007443
Related Conditions
Quick Facts
- SNOMED CT
- 63450009
- UMLS CUI
- C0342683
- Fully Specified Name
- Rufous albinism (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 15
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.