Phenotypes associated with the disease Familial isolated café-au-lait macules (ORPHA:2678):
- Freckling (HP:0001480): The presence of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2678)
- Multiple cafe-au-lait spots (HP:0007565): The presence of six or more cafe-au-lait spots. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2678)