- Absent eyebrow (HP:0002223): Absence of the eyebrow. Evidence: PCS. Frequency: 8/8. (PMID:16525032)
- Absent eyelashes (HP:0000561): Lack of eyelashes. Evidence: PCS. Frequency: 8/8. (PMID:16525032)
- Abnormality of the dentition (HP:0000164): Any abnormality of the teeth. Evidence: PCS. Frequency: 0/8. (PMID:16525032)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 8/8. (PMID:16525032)
- Alopecia (HP:0001596): A noncongenital process of hair loss, which may progress to partial or complete baldness. Evidence: PCS. Frequency: 8/8. Onset: Congenital onset (HP:0003577). (PMID:16525032)
- Brittle hair (HP:0002299): Fragile, easily breakable hair, i.e., with reduced tensile strength. Evidence: TAS. (OMIM:602032)
- Sparse body hair (HP:0002231): Sparseness of the body hair. Evidence: PCS. Frequency: 8/8. (PMID:16525032)
- Congenital onychodystrophy (HP:0008394). Evidence: PCS. Frequency: 8/8. (PMID:16525032)
- Onycholysis (HP:0001806): Detachment of the nail from the nail bed. Evidence: IEA. (OMIM:602032)
- 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:19865094)
- Nail dystrophy (HP:0008404): Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate. Evidence: PCS. Frequency: 8/8. Onset: Congenital onset (HP:0003577). (PMID:16525032)
- Palmoplantar hyperkeratosis (HP:0000972): Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot. Evidence: PCS. Frequency: 0/8. (PMID:16525032)
- Abnormal sweat gland morphology (HP:0000971): Any structural abnormality of the sweat gland. Evidence: PCS. Frequency: 0/8. (PMID:16525032)
- Intellectual disability (HP:0001249): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: PCS. Frequency: 0/8. (PMID:16525032)
- Pili torti (HP:0003777): Pili (from Latin pilus, hair) torti (from Latin tortus, twisted) refers to short and brittle hairs that appear flattened and twisted when viewed through a microscope. Evidence: TAS. (OMIM:602032)
- Temporal hypotrichosis (HP:0004524): Reduced or lacking hair growth in the temporal region (i.e., around the temples on the side of the skull). Evidence: IEA. (OMIM:602032)
These phenotypes are associated with the disease ectodermal dysplasia 4, hair/nail type (OMIM:602032).