Phenotypes associated with the disease microphthalmia, isolated, with coloboma 10 (OMIM:616428):
- Anophthalmia (HP:0000528): Absence of the globe or eyeball. Evidence: PCS. Frequency: 4/15. (PMID:25910211)
- Iris coloboma (HP:0000612): A coloboma of the iris. Evidence: PCS. Frequency: 8/15. (PMID:25910211)
- Microphthalmia (HP:0000568): A developmental anomaly characterized by abnormal smallness of one or both eyes. Evidence: PCS. Frequency: 8/15. (PMID:25910211)
- Optic pit (HP:0034567): A developmental anomaly characterized by congenital excavation of the optic nerve head. Evidence: PCS. Frequency: 1/15. (PMID:25910211)
- 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. Frequency: 1/15. (PMID:25910211)
- 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:25910211)
- Chorioretinal coloboma (HP:0000567): Absence of a region of the retina, retinal pigment epithelium, and choroid. Evidence: PCS. Frequency: 2/15. (PMID:25910211)