- Alopecia (HP:0001596): A noncongenital process of hair loss, which may progress to partial or complete baldness. Evidence: IEA. (OMIM:158000)
- Brittle hair (HP:0002299): Fragile, easily breakable hair, i.e., with reduced tensile strength. Evidence: TAS. (OMIM:158000)
- Nail dysplasia (HP:0002164): The presence of developmental dysplasia of the nail. Evidence: IEA. (OMIM:158000)
- Keratosis pilaris (HP:0032152): An anomaly of the hair follicles of the skin that typically presents as small, rough, brown folliculocentric papules distributed over characteristic areas of the skin, particularly the outer-upper arms and thighs. Evidence: IEA. (OMIM:158000)
- Variable expressivity (HP:0003828): A variable severity of phenotypic features. Evidence: IEA. (OMIM:158000)
- Abnormality of hair texture (HP:0010719): An abnormality of the texture of the hair. Evidence: TAS. (OMIM:158000)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: IEA. (OMIM:158000)
- Perifollicular hyperkeratosis (HP:0007468): Increased amount of keratin (visible as white scales) surrounding hair follicles. Evidence: IEA. (OMIM:158000)
- Nail dystrophy (HP:0008404): Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate. Evidence: TAS. (OMIM:158000)
- 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: TAS. (OMIM:158000)
- Sparse hair (HP:0008070): Reduced density of hairs. Evidence: TAS. (OMIM:158000)
These phenotypes are associated with the disease monilethrix-1 (OMIM:158000).