Phenotypes associated with the disease white sponge nevus 1 (OMIM:193900):
- Abnormal conjunctiva morphology (HP:0000502): An abnormality of the conjunctiva. Evidence: PCS. Frequency: 0/8. (PMID:7493030)
- Oral leukoplakia (HP:0002745): A thickened white patch on the oral mucosa that cannot be rubbed off. Evidence: PCS. Frequency: 8/8. (PMID:7493030)
- 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:7493030)