- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 9/9. (PMID:21345985)
- Hypermetropia (HP:0000540): An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry. Evidence: PCS. Frequency: 9/9. (PMID:21345985)
- Optic disc drusen (HP:0012426): Optic disc drusen are acellular, calcified deposits within the optic nerve head. Optic disc drusen are congenital and developmental anomalies of the optic nerve head, representing hyaline-containing bodies that, over time, appear as elevated, lumpy irregularities on the anterior portion of the optic nerve. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:615972)
- Microphthalmia (HP:0000568): A developmental anomaly characterized by abnormal smallness of one or both eyes. Evidence: PCS. Frequency: 9/9. Onset: Congenital onset (HP:0003577). (PMID:21345985)
- Reduced visual acuity (HP:0007663). Evidence: PCS. Frequency: 9/9. (PMID:21345985)
- Angle closure glaucoma (HP:0012109): A type of glaucomatous optic neuropathy in an eye that has evidence of angle closure (i.e. significant iridotrabecular contact). Evidence: PCS. Frequency: 3/9. Onset: Middle age onset (HP:0003596). (PMID:21345985)
- 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:21345985)
These phenotypes are associated with the disease nanophthalmos 4 (OMIM:615972).