Phenotypes associated with the disease isolated microphthalmia 8 (OMIM:615113):
- Optic nerve hypoplasia (HP:0000609): Underdevelopment of the optic nerve. Evidence: PCS. Frequency: 3/6. (PMID:23591992;PMID:23312594)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 6/6. (PMID:23591992;PMID:23312594)
- Retinal detachment (HP:0000541): Separation of the inner layers of the retina (neural retina) from the pigment epithelium. Evidence: PCS. Frequency: 1/3. (PMID:23591992)
- Retinal coloboma (HP:0000480): A notch or cleft of the retina or choroid, located vertically below the optic disc. Evidence: PCS. Frequency: 1/3. (PMID:23591992)
- Anophthalmia (HP:0000528): Absence of the globe or eyeball. Evidence: PCS. Frequency: 4/6. (PMID:23591992;PMID:23312594)
- Hypoplastic optic chiasm (HP:0034311): Developmental defect characterized by undergrowth of the optic chiasm. Evidence: PCS. Frequency: 3/6. (PMID:23591992;PMID:23312594)
- Short palpebral fissure (HP:0012745): Distance between the medial and lateral canthi is more than 2 SD below the mean for age (objective); or, apparently reduced length of the palpebral fissures. Evidence: PCS. Frequency: 2/3. (PMID:23591992)
- True anophthalmia (HP:0011478): Absence of globe, optic nerve, chiasm and optic tracts. No evidence of ocular tissue on MRI scan or examination. Evidence: PCS. Frequency: 1/3. (PMID:23591992)
- Microphthalmia (HP:0000568): A developmental anomaly characterized by abnormal smallness of one or both eyes. Evidence: PCS. Frequency: 3/6. (PMID:23591992;PMID:23312594)
- Autosomal recessive inheritance (HP:0000007): 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:23312594)
- Entropion (HP:0000621): An abnormal inversion (turning inward) of the eyelid (usually the lower) towards the globe. Entropion is usually acquired as a result of involutional or cicatricial processes but may occasionally be congenital. Evidence: PCS. Frequency: 2/3. (PMID:23591992)