Phenotypes associated with the disease dowling-degos disease 3 (OMIM:615674):
- Hyperpigmented/hypopigmented macules (HP:0007441). Evidence: TAS. Frequency: 3/11. (PMID:16575392)
- Palmar pits (HP:0010610). Evidence: TAS. Frequency: 0/11. (PMID:16575392)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:16575392)
- Reticulated skin pigmentation (HP:0007427). Evidence: PCS. Frequency: 11/11. (PMID:16575392)