- Nail dysplasia (HP:0002164): The presence of developmental dysplasia of the nail. Evidence: IEA. (OMIM:226500)
- 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: IEA. (OMIM:226500)
- 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: TAS. (OMIM:226500)
- Congenital sensorineural hearing impairment (HP:0008527): A type of hearing impairment caused by an abnormal functionality of the cochlear nerve with congenital onset. Evidence: IEA. (OMIM:226500)
- Diffuse slow skin atrophy (HP:0007504). Evidence: IEA. (OMIM:226500)
These phenotypes are associated with the disease epidermolysis bullosa dystrophica Neurotrophica (OMIM:226500).