- Holoprosencephaly (HP:0001360): Holoprosencephaly is a structural anomaly of the brain in which the developing forebrain fails to divide into two separate hemispheres and ventricles. Evidence: PCS. Frequency: Occasional (HP:0040283). (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=anophthalmia-ov)
- Anophthalmia (HP:0000528): Absence of the globe or eyeball. Evidence: PCS. Frequency: Occasional (HP:0040283). (PMID:12503095)
- Variable expressivity (HP:0003828): A variable severity of phenotypic features. Evidence: PCS. (OMIM:611638)
- Typified by incomplete penetrance (HP:0003829): Description of conditions in which not all individuals with a given genotype exhibit the disease. Penetrance is the proportion that develop disease given a lifespan of 80 years. Evidence: PCS. (OMIM:611638)
- Iris coloboma (HP:0000612): A coloboma of the iris. Evidence: PCS. Frequency: Very frequent (HP:0040281). (PMID:12503095)
- Microphthalmia (HP:0000568): A developmental anomaly characterized by abnormal smallness of one or both eyes. Evidence: PCS. Frequency: Very frequent (HP:0040281). (OMIM:611638)
- Abnormality of vision (HP:0000504): Abnormality of eyesight (visual perception). Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:12503095)
- Orofacial cleft (HP:0000202): The presence of a cleft (gap, opening, or groove) in the oral cavity, including cleft of the upper lip and/or cleft of the palate. Cleft of the upper lip is visible as a groove or fissure in the lip, most frequently due to a congenital failure of the maxillary and median nasal processes to fuse. Cleft palate is characterized by a grooved depression or fissure in the roof of the mouth, most often resulting from a congenital failure of the palate to fuse properly. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately. Evidence: PCS. Frequency: Occasional (HP:0040283). (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=anophthalmia-ov)
- Bilateral microphthalmos (HP:0007633): A developmental anomaly characterized by abnormal smallness of both eyes. Evidence: TAS. (OMIM:611638)
- 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:12503095)
- Chorioretinal coloboma (HP:0000567): Absence of a region of the retina, retinal pigment epithelium, and choroid. Evidence: PCS. (PMID:12503095)
These phenotypes are associated with the disease microphthalmia, isolated, with coloboma 5 (OMIM:611638).