Phenotypes associated with the disease congenital microcoria (OMIM:156600):
- Miosis (HP:0000616): Abnormal (non-physiological) constriction of the pupil. Evidence: PCS. (PMID:25772937)
- Ocular hypertension (HP:0007906): Intraocular pressure that is 2 standard deviations above the population mean. Evidence: IEA. Frequency: Very rare (HP:0040284). (OMIM:156600)
- Hypoplasia of the iris dilator muscle (HP:0008345): Underdevelopment of the dilatator pupillae. Evidence: IEA. (OMIM:156600)
- Microcoria (HP:0025492): A small pupil (typically diameter less than 2 mm) that dilates poorly or not at all in response to topically administered mydriatic drugs. Evidence: PCS. Onset: Congenital onset (HP:0003577). (PMID:25772937)
- 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:25772937)
- Myopia (HP:0000545): An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry. Evidence: IEA. (OMIM:156600)
- Glaucoma (HP:0000501): Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:156600)