Phenotypes associated with the disease microphthalmia, isolated, with coloboma 7 (OMIM:614497):
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 8/8. (PMID:22226084)
- Microphthalmia (HP:0000568): A developmental anomaly characterized by abnormal smallness of one or both eyes. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:614497)
- Iris coloboma (HP:0000612): A coloboma of the iris. Evidence: PCS. Frequency: 8/8. (PMID:22226084)
- 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:22226084)
- Inferior chorioretinal coloboma (HP:0031613): Absence of a region of the retina, retinal pigment epithelium, and choroid at the lower part of the fundus. Evidence: PCS. Frequency: 8/8. (PMID:22226084)