- 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. (OMIM:207780)
- 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: TAS. (OMIM:207780)
- Generalized hypotrichosis (HP:0004528): Reduced or lacking hair growth in a generalized distribution. Evidence: IEA. (OMIM:207780)
- Abnormality of the ear (HP:0000598): An abnormality of the ear. Evidence: IEA. (OMIM:207780)
- Mandibular prognathia (HP:0000303): Abnormal prominence of the chin related to increased length of the mandible. Evidence: IEA. (OMIM:207780)
These phenotypes are associated with the disease AREDYLD syndrome (OMIM:207780).