Phenotypes associated with the disease nonsyndromic congenital nail disorder 3 (OMIM:151600):
- Abnormal hair morphology (HP:0001595): An abnormality of the hair. Evidence: PCS. Frequency: 0/25. (PMID:21665001)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 25/25. (PMID:21665001)
- Abnormal skin morphology (HP:0011121): Any morphological abnormality of the skin. Evidence: PCS. Frequency: 0/25. (PMID:21665001)
- Autosomal recessive inheritance (HP:0000007): 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:21665001)
- Concave nail (HP:0001598): The natural longitudinal (posterodistal) convex arch is not present or is inverted. Evidence: IEA. (OMIM:151600)
- 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:21665001)
- Leukonychia (HP:0001820): White discoloration of the nails. Evidence: PCS. Frequency: 25/25. (PMID:21665001)