Phenotypes associated with the disease hypotrichosis 7 (OMIM:604379):
- 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: TAS. Frequency: Occasional (HP:0040283). (OMIM:604379)
- Abnormality of the dentition (HP:0000164): Any abnormality of the teeth. Evidence: PCS. Frequency: 0/3. (PMID:17333281)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 3/3. (PMID:17333281)
- Abnormal nail morphology (HP:0001597): Abnormal structure or appearance of the nail. Evidence: PCS. Frequency: 0/3. (PMID:17333281)
- Brittle hair (HP:0002299): Fragile, easily breakable hair, i.e., with reduced tensile strength. Evidence: PCS. (PMID:17095700)
- Sparse body hair (HP:0002231): Sparseness of the body hair. Evidence: PCS. Frequency: 3/3. (PMID:17333281)
- Sparse eyebrow (HP:0045075): Decreased density/number of eyebrow hairs. Evidence: PCS. Frequency: 3/3. (PMID:17333281)
- Sparse hair (HP:0008070): Reduced density of hairs. Evidence: PCS. Frequency: 3/3. (PMID:17333281)
- Sparse scalp hair (HP:0002209): Decreased number of hairs per unit area of skin of the scalp. Evidence: PCS. Frequency: 3/3. (PMID:17333281)
- 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:17095700)
- Comedo (HP:0025249): A clogged cutaneous sebaceous follicle, which is a cutaneous gland that secretes sebum (usually into a hair follicle). Evidence: PCS. Frequency: 1/1. (PMID:17333281)
- Sparse eyelashes (HP:0000653): Decreased density/number of eyelashes. Evidence: PCS. Frequency: 3/3. (PMID:17333281)
- Abnormal sweat gland morphology (HP:0000971): Any structural abnormality of the sweat gland. Evidence: PCS. Frequency: 0/3. (PMID:17333281)
- Abnormality of the skin (HP:0000951): An abnormality of the skin. Evidence: PCS. Frequency: 0/3. (PMID:17333281)
- Sparse axillary hair (HP:0002215): Reduced number or density of axillary hair. Evidence: PCS. Frequency: 3/3. (PMID:17333281)