- Abnormality of the dentition (HP:0000164): Any abnormality of the teeth. Evidence: PCS. Frequency: Very frequent (HP:0040281). (PMID:9618168)
- Hypoplastic iris stroma (HP:0007990): Underdevelopment of the stroma of iris. Evidence: PCS. Frequency: Very frequent (HP:0040281). (PMID:9618168;PMID:5804028)
- Abnormal facial shape (HP:0001999): An abnormal morphology (form) of the face or its components. Evidence: PCS. (PMID:9618168;PMID:8942889)
- Iris hypopigmentation (HP:0007730): An abnormal reduction in the amount of pigmentation of the iris. Evidence: PCS. Frequency: Very frequent (HP:0040281). (PMID:9618168;PMID:5804028)
- 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:9618168;PMID:5804028)
- Glaucoma (HP:0000501): Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure. Evidence: PCS. Frequency: Very frequent (HP:0040281). (PMID:9618168;PMID:6881141)
These phenotypes are associated with the disease anterior segment dysgenesis 4 (OMIM:137600).