Phenotypes associated with the disease hypotrichosis 16 (OMIM:621490):
- Woolly hair (HP:0002224): The term wooly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter. Evidence: PCS. (PMID:38771644)
- Abnormal fingernail morphology (HP:0001231): An abnormality of the fingernails. Evidence: PCS. Frequency: 0/7. (PMID:38771644)
- Patchy alopecia (HP:0002232): Transient, non-scarring hair loss and preservation of the hair follicle located in in well-defined patches. Evidence: PCS. (PMID:38771644)
- Brittle hair (HP:0002299): Fragile, easily breakable hair, i.e., with reduced tensile strength. Evidence: PCS. (PMID:38771644)
- Abnormal dental morphology (HP:0006482): An abnormality of the morphology of the tooth. Evidence: PCS. Frequency: 0/7. (PMID:38771644)
- Abnormal skin morphology (HP:0011121): Any morphological abnormality of the skin. Evidence: PCS. Frequency: 0/7. (PMID:38771644)
- Sparse scalp hair (HP:0002209): Decreased number of hairs per unit area of skin of the scalp. Evidence: PCS. (PMID:38771644)
- Slow-growing hair (HP:0002217): Hair whose growth is slower than normal. Evidence: PCS. (PMID:38771644)
- Abnormal sweat gland morphology (HP:0000971): Any structural abnormality of the sweat gland. Evidence: PCS. Frequency: 0/7. (PMID:38771644)
- 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:38771644)
- Sparse hair (HP:0008070): Reduced density of hairs. Evidence: PCS. (PMID:38771644)