Phenotypes associated with the disease hypotrichosis 4 (OMIM:146550, an entry in Online Mendelian Inheritance in Man):
- Congenital onset (HP:0003577, a Human Phenotype Ontology term): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 4/4. (PMID:20814945)
- Alopecia (HP:0001596, a Human Phenotype Ontology term): A noncongenital process of hair loss, which may progress to partial or complete baldness. Evidence: PCS. Frequency: 1/4. (PMID:20814945)
- Sparse body hair (HP:0002231, a Human Phenotype Ontology term): Sparseness of the body hair. Evidence: PCS. Frequency: 3/4. (PMID:20814945)
- Uncombable hair (HP:0030056, a Human Phenotype Ontology term): Hair that is disorderly, stands out from the scalp, and cannot be combed flat. Evidence: PCS. Frequency: 1/1. (PMID:20814945)
- Sparse scalp hair (HP:0002209, a Human Phenotype Ontology term): Decreased number of hairs per unit area of skin of the scalp. Evidence: PCS. Frequency: 1/4. (PMID:20814945)
- Sparse eyelashes (HP:0000653, a Human Phenotype Ontology term): Decreased density/number of eyelashes. Evidence: PCS. (PMID:20814945)
- Sparse eyebrow (HP:0045075, a Human Phenotype Ontology term): Decreased density/number of eyebrow hairs. Evidence: PCS. Frequency: 4/4. Onset: Congenital onset (HP:0003577, a Human Phenotype Ontology term). (PMID:20814945)
- Autosomal dominant inheritance (HP:0000006, a Human Phenotype Ontology term): 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:19122663)