- Triphalangeal thumb (HP:0001199): A thumb with three phalanges in a single, proximo-distal axis. Thus, this term applies if the thumb has an accessory phalanx, leading to a digit like appearance of the thumb. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:124480)
- Toe syndactyly (HP:0001770): Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are referred to as "Symphalangism". Evidence: TAS. (OMIM:124480)
- Small nail (HP:0001792): A nail that is diminished in length and width, i.e., underdeveloped nail. Evidence: PCS. Frequency: 1/1. (PMID:28396750)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 3/3. (PMID:24913193)
- Hidrotic ectodermal dysplasia (HP:0007529). Evidence: IEA. (OMIM:124480)
- Bilateral sensorineural hearing impairment (HP:0008619): A form of sensorineural hearing impairment that affects both ears. Evidence: PCS. Frequency: 1/1. (PMID:28396750)
- Brachydactyly (HP:0001156): Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here. Evidence: TAS. (OMIM:124480)
- Selective tooth agenesis (HP:0001592): Agenesis specifically affecting one of the classes incisor, premolar, or molar. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:124480)
- Absent fifth fingernail (HP:0200104): Absence of nail of little finger. Evidence: PCS. Frequency: 3/3. (PMID:24913193)
- Absent thumbnail (HP:0012554): Absence of thumb nail. Evidence: PCS. Frequency: 1/1. (PMID:28396750)
- Absent middle phalanx of 5th finger (HP:0009162): Absence of the middle phalanx of the little (5th) finger. Evidence: PCS. Frequency: 3/3. (PMID:24913193)
- Sensorineural hearing impairment (HP:0000407): A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. Evidence: PCS. Frequency: 3/3. (PMID:24913193)
- High forehead (HP:0000348): An abnormally increased height of the forehead. Evidence: IEA. Frequency: 1/1. (PMID:28396750)
- Bilateral triphalangeal thumbs (HP:0005707): A bilateral form of triphalangeal thumb. Evidence: PCS. Frequency: 1/1. (PMID:28396750)
- Absent toenail (HP:0001802): Congenital absence of the toenail. Evidence: PCS. Frequency: 1/1. (PMID:28396750)
- 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: 3/3. (PMID:24913193)
- 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:24913193)
- 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: 0/3. (PMID:24913193)
- Conical tooth (HP:0000698): An abnormal conical form of the teeth, that is, a tooth whose sides converge or taper together incisally. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:124480)
These phenotypes are associated with the disease autosomal dominant deafness - onychodystrophy syndrome (OMIM:124480).