- Tooth agenesis (HP:0009804, a Human Phenotype Ontology term): The absence of one or more teeth from the normal series by a failure to develop. Evidence: PCS. Frequency: 3/3. (PMID:28301459)
- Nail dysplasia (HP:0002164, a Human Phenotype Ontology term): The presence of developmental dysplasia of the nail. Evidence: PCS. Frequency: 0/3. (PMID:28301459)
- Euryblepharon (HP:0012905, a Human Phenotype Ontology term): Euryblepharon is a congenital eyelid anomaly characterized by horizontal enlargement of the palpebral fissure. The eyelid is shortened vertically compared with the horizontal dimension, with associated lateral canthal malpositioning and lateral ectropion abnormally wide lid opening. Evidence: PCS. Frequency: 2/3. (PMID:28301459)
- Lagophthalmos (HP:0030001, a Human Phenotype Ontology term): A condition in which the eyelids do not close to cover the eye completely. Evidence: PCS. Frequency: 2/3. (PMID:28301459)
- Cleft lip (HP:0410030, a Human Phenotype Ontology term): A gap in the lip or lips. Evidence: PCS. Frequency: 2/3. (PMID:28301459)
- Cutaneous syndactyly (HP:0012725, a Human Phenotype Ontology term): A soft tissue continuity in the A/P axis between two digits that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two digits that lies significantly distal to the flexion crease that overlies the metacarpophalangeal or metatarsophalangeal joint of the adjacent digits. Evidence: IEA. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (OMIM:617681)
- Flat face (HP:0012368, a Human Phenotype Ontology term): Absence of concavity or convexity of the face when viewed in profile. Evidence: IEA. (OMIM:617681)
- Ectropion of lower eyelids (HP:0007651, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 3/3. (PMID:28301459)
- Hypertelorism (HP:0000316, a Human Phenotype Ontology term): Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). Evidence: IEA. (OMIM:617681)
- High forehead (HP:0000348, a Human Phenotype Ontology term): An abnormally increased height of the forehead. Evidence: IEA. (OMIM:617681)
- Distichiasis (HP:0009743, a Human Phenotype Ontology term): Double rows of eyelashes. Evidence: PCS. Frequency: 2/3. (PMID:28301459)
- 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:28301459)
- Conical tooth (HP:0000698, a Human Phenotype Ontology term): An abnormal conical form of the teeth, that is, a tooth whose sides converge or taper together incisally. Evidence: PCS. Frequency: 3/3. (PMID:28301459)
- Facial asymmetry (HP:0000324, a Human Phenotype Ontology term): An abnormal difference between the left and right sides of the face. Evidence: IEA. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (OMIM:617681)
These phenotypes are associated with the disease blepharocheilodontic syndrome 2 (OMIM:617681, an entry in Online Mendelian Inheritance in Man).