- Cleft palate (HP:0000175, a Human Phenotype Ontology term): Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate). Evidence: PCS. Frequency: 1/10. (PMID:34750192)
- Congenital onset (HP:0003577, a Human Phenotype Ontology term): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 10/10. (PMID:34750192)
- Hearing impairment (HP:0000365, a Human Phenotype Ontology term): A decreased magnitude of the sensory perception of sound. Evidence: PCS. Frequency: 6/6. (PMID:34750192)
- Full cheeks (HP:0000293, a Human Phenotype Ontology term): Increased prominence or roundness of soft tissues between zygomata and mandible. Evidence: PCS. Frequency: 8/10. (PMID:34750192)
- Narrow mouth (HP:0000160, a Human Phenotype Ontology term): Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective). Evidence: PCS. Frequency: 8/10. (PMID:34750192)
- Global developmental delay (HP:0001263, a Human Phenotype Ontology term): A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. Evidence: PCS. Frequency: 0/10. (PMID:34750192)
- Postauricular skin tag (HP:0004451, a Human Phenotype Ontology term): A rudimentary tag of ear tissue often containing a core of cartilage and located just in back of the auricle (outer part of the ear). Evidence: PCS. Frequency: 2/10. (PMID:34750192)
- Glossoptosis (HP:0000162, a Human Phenotype Ontology term): Posterior displacement of the tongue into the pharynx, i.e., a tongue that is mislocalised posteriorly. Evidence: PCS. Frequency: 4/9. (PMID:34750192)
- Question mark ear (HP:0030022, a Human Phenotype Ontology term): Cleft between the helix and the lobe. Evidence: PCS. Frequency: 8/10. (PMID:34750192)
- Autosomal dominant inheritance (HP:0000006, a Human Phenotype Ontology term): 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:34750192)
- Apnea (HP:0002104, a Human Phenotype Ontology term): Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event. Evidence: PCS. Frequency: 4/10. (PMID:34750192)
- Micrognathia (HP:0000347, a Human Phenotype Ontology term): Developmental hypoplasia of the mandible. Evidence: PCS. Frequency: 6/10. (PMID:34750192)
- Facial asymmetry (HP:0000324, a Human Phenotype Ontology term): An abnormal difference between the left and right sides of the face. Evidence: PCS. Frequency: 6/10. (PMID:34750192)
These phenotypes are associated with the disease auriculocondylar syndrome 4 (OMIM:620457, an entry in Online Mendelian Inheritance in Man).