- Downslanted palpebral fissures (HP:0000494): The palpebral fissure inclination is more than two standard deviations below the mean. Evidence: PCS. Frequency: 3/4. (PMID:18435799)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 9/9. (PMID:17236138)
- Long face (HP:0000276): Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective). Evidence: PCS. (PMID:17236138)
- Skin tags (HP:0010609): Cutaneous skin tags also known as acrochorda or fibroepithelial polyps are small benign tumors that may either form secondarily over time primarily in areas where the skin forms creases, such as the neck, armpit or groin or may also be present at birth, in which case they usually occur in the periauricular region. Evidence: IEA. (OMIM:610706)
- Microdontia (HP:0000691): Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth. Evidence: PCS. Frequency: 12/12. (PMID:17236138;PMID:18435799)
- Jugular foramen stenosis (HP:6000376): Reduction in diameter of the jugular foramen, an opening in the base of the skull that is located behind the carotid canal and is formed by the temporal bone and the occipital bone. The inferior petrosal sinus, three cranial nerves, the sigmoid sinus, and meningeal arteries pass through the jugular foramen. Evidence: PCS. Frequency: 3/4. (PMID:18435799)
- Delayed gross motor development (HP:0002194): A type of motor delay characterized by a delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling. Evidence: PCS. Frequency: 9/9. (PMID:17236138)
- Profound sensorineural hearing impairment (HP:0011476): Complete loss of hearing related to a sensorineural defect. Evidence: PCS. Frequency: 9/9. Onset: Congenital onset (HP:0003577). (PMID:17236138)
- Anteverted ears (HP:0040080). Evidence: PCS. Frequency: 11/13. (PMID:17236138;PMID:18435799)
- Aplasia of the inner ear (HP:0011372): Absence of the inner ear due to a developmental defect. Evidence: PCS. Frequency: 9/9. (PMID:17236138)
- Microtia, first degree (HP:0011266): Presence of all the normal ear components and the median longitudinal length more than two standard deviations below the mean. Evidence: PCS. Frequency: 13/13. (PMID:17236138;PMID:18435799)
- Peg-shaped maxillary lateral incisors (HP:0006342): A tooth crown with its mesial and distal sides converging or tapering toward the incisal edge causing severe reduction of mesiodistal diameter. Evidence: PCS. (PMID:17236138)
- Prominent nose (HP:0000448): Distance between subnasale and pronasale more than two standard deviations above the mean, or alternatively, an apparently increased anterior protrusion of the nasal tip. Evidence: PCS. Frequency: 2/4. (PMID:18435799)
- 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:17236138)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: PCS. (PMID:17236138)
- Widely spaced teeth (HP:0000687): Increased spaces (diastemata) between most of the teeth in the same dental arch. Evidence: PCS. Frequency: 9/9. (PMID:17236138)
- Conical tooth (HP:0000698): An abnormal conical form of the teeth, that is, a tooth whose sides converge or taper together incisally. Evidence: IEA. (OMIM:610706)
These phenotypes are associated with the disease deafness with labyrinthine aplasia, microtia, and microdontia (OMIM:610706).