- 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. Frequency: 3/3. (PMID:22592156)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 3/3. (PMID:22592156)
- Abnormal dental morphology (HP:0006482): An abnormality of the morphology of the tooth. Evidence: PCS. Frequency: 0/3. (PMID:22592156)
- Abnormal skin morphology (HP:0011121): Any morphological abnormality of the skin. Evidence: PCS. Frequency: 0/3. (PMID:22592156)
- Sparse eyelashes (HP:0000653): Decreased density/number of eyelashes. Evidence: PCS. Frequency: 3/3. (PMID:22592156)
- Abnormal sweat gland morphology (HP:0000971): Any structural abnormality of the sweat gland. Evidence: PCS. Frequency: 0/3. (PMID:22592156)
- Sparse hair (HP:0008070): Reduced density of hairs. Evidence: PCS. Frequency: 3/3. (PMID:22592156)
- 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:22592156)
These phenotypes are associated with the disease hypotrichosis 13 (OMIM:615896).