Synonym(s): (no synonyms)
Classification (Orphanet): - Rare genetic disease - Rare skin disease Entire classification		Classification (ICD10): - Diseases of the skin and subcutaneous tissue - See
Epidemiological data: Class of prevalence: - Average age onset: - Average age of death: - Type of inheritance: autosomal dominant		External references: 3 OMIM references - See No MeSH references
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
ABCB6	Q9NP58	605452

- Excessive freckling
- Irregular / in bands / reticular skin hyperpigmentation
- Irregular / patchy skin hypopigmentation
- Macules

- Cafe-au-lait spot
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Hearing loss / hypoacusia / deafness
- Skin photosensitivity

- Short stature / dwarfism / nanism