- Lacrimal duct atresia (HP:0000564, a Human Phenotype Ontology term): A developmental disorder of the lacrimal drainage system that most often affects the lacrimal ostium and resulting in non-opening of the nasolacrimal duct. It usually results from a non-canalization of the nasolacrimal duct. Evidence: IEA. (OMIM:165600)
- Lower eyelid coloboma (HP:0000652, a Human Phenotype Ontology term): A short discontinuity of the margin of the lower eyelid. Evidence: IEA. (OMIM:165600)
- 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: IEA. (OMIM:165600)
- Congenital extraocular muscle anomaly (HP:0007647, a Human Phenotype Ontology term): Congenital abnormality of the extraocular muscles. Evidence: IEA. (OMIM:165600)
These phenotypes are associated with the disease syndromic orbital border hypoplasia (OMIM:165600, an entry in Online Mendelian Inheritance in Man).