Phenotypes associated with the disease ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant (OMIM:614940):
- Anhidrosis (HP:0000970): Inability to sweat. Evidence: IEA. (OMIM:614940)
- Absent hair (HP:0002298). Evidence: IEA. (OMIM:614940)
- Hypohidrotic ectodermal dysplasia (HP:0007607). Evidence: PCS. (PMID:26440664)
- 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:614940)
- Brittle hair (HP:0002299): Fragile, easily breakable hair, i.e., with reduced tensile strength. Evidence: PCS. Frequency: 3/3. (PMID:26440664)
- Dry skin (HP:0000958): Skin characterized by the lack of natural or normal moisture. Evidence: IEA. (OMIM:614940)
- Absent nipple (HP:0002561): Congenital failure to develop, and absence of, the nipple. Evidence: IEA. Frequency: Occasional (HP:0040283). (OMIM:614940)
- Hypodontia (HP:0000668): The absence of five or less teeth from the normal series by a failure to develop. Evidence: TAS. Frequency: 3/3. (OMIM:614940)
- Hypohidrosis (HP:0000966): Abnormally diminished capacity to sweat. Evidence: PCS. Frequency: 3/3. (PMID:26440664)
- 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:17354266)
- Sparse hair (HP:0008070): Reduced density of hairs. Evidence: PCS. Frequency: 3/3. (PMID:26440664)
- Oligodontia (HP:0000677): The absence of six or more teeth from the normal series by a failure to develop. Evidence: PCS. Frequency: 1/1. (PMID:21626677)