Phenotypes associated with the disease hereditary hypotrichosis with recurrent skin vesicles (OMIM:613102):
- Abnormality of the dentition (HP:0000164): Any abnormality of the teeth. Evidence: PCS. Frequency: 0/4. (PMID:19765682)
- Abnormal EKG (HP:0003115): Abnormal rhythm of the heart. Evidence: PCS. Frequency: 0/4. (PMID:19765682)
- Sparse body hair (HP:0002231): Sparseness of the body hair. Evidence: PCS. Frequency: 4/4. (PMID:19765682)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 4/4. (PMID:19765682)
- Epidermal acanthosis (HP:0025092): Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin). Evidence: PCS. Frequency: 1/1. (PMID:31790667)
- Sparse eyebrow (HP:0045075): Decreased density/number of eyebrow hairs. Evidence: PCS. Frequency: 5/5. (PMID:19765682;PMID:31790667)
- Angular cheilitis (HP:0030318): A type of inflammation of the lips involving one or both of the corners of the mouth. Evidence: PCS. Frequency: 1/1. (PMID:31790667)
- Sparse hair (HP:0008070): Reduced density of hairs. Evidence: PCS. Frequency: 1/1. (PMID:31790667)
- Abnormal blistering of the skin (HP:0008066): The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls. Evidence: PCS. Frequency: 1/1. (PMID:31790667)
- Skin vesicle (HP:0200037): A circumscribed, fluid-containing, epidermal elevation less than 10mm in diameter at the widest point that (i) Contain serous exudates or serum mixed with blood or pus; (ii) Are discrete, grouped, irregularly distributed, or linear as in Rhus dermatitis; (iii) Are short-lived. Vesicles may break spontaneously or evolve into bullae by enlarging or coalescing with other vesicles. Evidence: PCS. Frequency: 4/4. (PMID:19765682)
- Sparse scalp hair (HP:0002209): Decreased number of hairs per unit area of skin of the scalp. Evidence: PCS. Frequency: 5/5. (PMID:19765682;PMID:31790667)
- 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:19765682)
- Sparse eyelashes (HP:0000653): Decreased density/number of eyelashes. Evidence: PCS. Frequency: 4/4. (PMID:19765682)
- Follicular hyperkeratosis (HP:0007502): A skin condition characterized by excessive development of keratin in hair follicles, resulting in rough, cone-shaped, elevated papules resulting from closure of hair follicles with a white plug of sebum. Evidence: PCS. Frequency: 1/1. (PMID:31790667)
- Sparse axillary hair (HP:0002215): Reduced number or density of axillary hair. Evidence: PCS. Frequency: 4/4. (PMID:19765682)
- Leukonychia (HP:0001820): White discoloration of the nails. Evidence: PCS. Frequency: 1/1. (PMID:31790667)