Phenotypes associated with the disease ectodermal dysplasia 6, hair/nail type (OMIM:614928):
- Alopecia (HP:0001596): A noncongenital process of hair loss, which may progress to partial or complete baldness. Evidence: PCS. Frequency: 7/7. (PMID:17107387)
- Sparse body hair (HP:0002231): Sparseness of the body hair. Evidence: PCS. Frequency: 7/7. (PMID:17107387)
- 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:17107387)
- Thin toenail (HP:0012746): Toenail that appears thin when viewed on end. Evidence: PCS. Frequency: 7/7. (PMID:17107387)
- Concave nail (HP:0001598): The natural longitudinal (posterodistal) convex arch is not present or is inverted. Evidence: PCS. Frequency: 7/7. (PMID:17107387)
- Abnormal sweat gland morphology (HP:0000971): Any structural abnormality of the sweat gland. Evidence: PCS. Frequency: 0/7. (PMID:17107387)
- 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: 7/7. (PMID:17107387)
- Sparse hair (HP:0008070): Reduced density of hairs. Evidence: PCS. Frequency: 7/7. (PMID:17107387)
- 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: 0/7. (PMID:17107387)