- Tooth agenesis (HP:0009804): The absence of one or more teeth from the normal series by a failure to develop. Evidence: IEA. (OMIM:150400)
- Sparse body hair (HP:0002231): Sparseness of the body hair. Evidence: PCS. Frequency: 6/9. (PMID:19559398)
- Short eyelashes (HP:0010764): Decreased length of the eyelashes (subjective). Evidence: PCS. Frequency: 4/11. (PMID:19559398)
- Sparse eyebrow (HP:0045075): Decreased density/number of eyebrow hairs. Evidence: PCS. Frequency: 7/11. (PMID:19559398)
- Palmar hyperkeratosis (HP:0010765): Abnormal thickening of the skin localized to the palm of the hand. Evidence: PCS. Frequency: 3/11. (PMID:19559398)
- Dystrophic fingernails (HP:0008391): The presence of misshapen or partially destroyed nail plates, often with accumulation of soft, yellow keratin between the dystrophic nail plate and nail bed, resulting in elevation of the nail plate. Evidence: PCS. Frequency: 6/12. (PMID:19559398)
- Dry skin (HP:0000958): Skin characterized by the lack of natural or normal moisture. Evidence: PCS. Frequency: 7/11. (PMID:19559398)
- Abnormal primary tooth morphology (HP:0006481): Any abnormality of the primary tooth. Evidence: PCS. Frequency: 6/12. (PMID:19559398)
- Peg-shaped maxillary lateral incisors (HP:0006342): A tooth crown with its mesial and distal sides converging or tapering toward the incisal edge causing severe reduction of mesiodistal diameter. Evidence: IEA. (OMIM:150400)
- Sparse scalp hair (HP:0002209): Decreased number of hairs per unit area of skin of the scalp. Evidence: PCS. Frequency: 7/12. (PMID:19559398)
- Photophobia (HP:0000613): Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light. Evidence: PCS. Frequency: 3/11. (PMID:19559398)
- 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:19559398)
- Palmoplantar hyperhidrosis (HP:0007410): An abnormally increased perspiration on palms and soles. Evidence: PCS. Frequency: 3/11. (PMID:19559398)
- Hypohidrosis (HP:0000966): Abnormally diminished capacity to sweat. Evidence: PCS. Frequency: 3/11. (PMID:19559398)
- 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:19559398)
- Thin skin (HP:0000963): Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin. Evidence: PCS. Frequency: 3/11. (PMID:19559398)
- Dystrophic toenail (HP:0001810): Toenail changes apart from changes of the color of the toenail (nail dyschromia) that involve partial or complete disruption of the various keratinous layers of the nail plate. Evidence: PCS. Frequency: 8/12. (PMID:19559398)
- Agenesis of permanent teeth (HP:0006349): A congenital defect characterized by the absence of one or more permanent teeth, including oligodontia, hypodontia, and adontia of the of permanent teeth. Evidence: PCS. Frequency: 12/12. (PMID:19559398)
These phenotypes are associated with the disease tooth agenesis, selective, 4 (OMIM:150400).