- Absent eyebrow (HP:0002223): Absence of the eyebrow. Evidence: PCS. Frequency: 2/2. (PMID:26991760)
- Absent eyelashes (HP:0000561): Lack of eyelashes. Evidence: PCS. Frequency: 2/2. (PMID:26991760)
- Anhidrosis (HP:0000970): Inability to sweat. Evidence: IEA. (OMIM:614941)
- Everted lower lip vermilion (HP:0000232): An abnormal configuration of the lower lip such that it is turned outward i.e., everted, with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view. Evidence: IEA. (OMIM:614941)
- Sparse body hair (HP:0002231): Sparseness of the body hair. Evidence: IEA. (OMIM:614941)
- Absent nipple (HP:0002561): Congenital failure to develop, and absence of, the nipple. Evidence: IEA. Frequency: Occasional (HP:0040283). (OMIM:614941)
- Depressed nasal bridge (HP:0005280): Posterior positioning of the nasal root in relation to the overall facial profile for age. Evidence: TAS. (OMIM:614941)
- Sparse hair (HP:0008070): Reduced density of hairs. Evidence: IEA. (OMIM:614941)
- Dry skin (HP:0000958): Skin characterized by the lack of natural or normal moisture. Evidence: PCS. Frequency: 2/2. (PMID:26991760)
- Ectodermal dysplasia (HP:0000968): Ectodermal dysplasia is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands. Evidence: IEA. Frequency: Obligate (HP:0040280). (OMIM:614941)
- Rhinitis (HP:0012384): Inflammation of the nasal mucosa with nasal congestion. Evidence: PCS. Frequency: 2/2. (PMID:26991760)
- Periorbital wrinkles (HP:0000607). Evidence: TAS. (OMIM:614941)
- Xerostomia (HP:0000217): Dryness of the mouth due to salivary gland dysfunction. Evidence: PCS. Frequency: 2/2. (PMID:26991760)
- Sparse scalp hair (HP:0002209): Decreased number of hairs per unit area of skin of the scalp. Evidence: PCS. Frequency: 2/2. (PMID:26991760)
- Hypodontia (HP:0000668): The absence of five or less teeth from the normal series by a failure to develop. Evidence: PCS. Frequency: 12/12. (PMID:26991760;OMIM:614941)
- 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:11780064)
- Sparse eyelashes (HP:0000653): Decreased density/number of eyelashes. Evidence: TAS. (OMIM:614941)
- Recurrent respiratory infections (HP:0002205): An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections. Evidence: PCS. Frequency: 2/2. (PMID:26991760)
- Hypoplastic nipples (HP:0002557): Underdevelopment of the nipple. Evidence: TAS. (OMIM:614941)
- Sparse lateral eyebrow (HP:0005338): Decreased density/number and/or decreased diameter of lateral eyebrow hairs. Evidence: TAS. (OMIM:614941)
- Conical tooth (HP:0000698): An abnormal conical form of the teeth, that is, a tooth whose sides converge or taper together incisally. Evidence: TAS. (OMIM:614941)
These phenotypes are associated with the disease ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive (OMIM:614941).