- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 10/10. (PMID:36260083)
- Submucous cleft palate (HP:5201016): A cleft of the muscular portion of the palate that is covered by mucous membrane. Evidence: PCS. Frequency: 1/10. (PMID:36260083)
- 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: 1/10. (PMID:36260083)
- Bifid uvula (HP:0000193): Uvula separated into two parts most easily seen at the tip. Evidence: PCS. Frequency: 1/10. (PMID:36260083)
- 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: PCS. Frequency: 1/10. (PMID:36260083)
- Microtia (HP:0008551): Underdevelopment of the external ear. Evidence: PCS. Frequency: 10/10. (PMID:36260083)
- Microtia, third degree (HP:0011267): Presence of some auricular structures, but none of these structures conform to recognized ear components. Evidence: PCS. Frequency: 8/10. (PMID:36260083)
- Dermal sinus tract (HP:0020223): A dermal sinus tract is an abnormality present at birth over the dorsal midline where an abnormal epithelialized connection from the skin tracks inwards towards the spine, most commonly seen in the lumbosacral region. Evidence: PCS. Frequency: 1/10. (PMID:36260083)
- Microtia, second degree (HP:0008569): Median longitudinal length of the ear more than two standard deviations below the mean in the presence of some, but not all, parts of the normal ear. Evidence: PCS. Frequency: 1/10. (PMID:36260083)
- 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:36260083)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: PCS. Frequency: 3/10. (PMID:36260083)
These phenotypes are associated with the disease craniofacial microsomia 2 (OMIM:620444).