Phenotypes associated with the disease foveal hypoplasia 3 (OMIM:620958):
- Abnormal foveal pit on macular OCT (HP:0030622). Evidence: PCS. Frequency: 1/1. (PMID:35188035)
- EEG abnormality (HP:0002353): Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp. Evidence: PCS. Frequency: 0/2. (PMID:31009037)
- Color vision defect (HP:0000551): An anomaly in the ability to discriminate between or recognize colors. Evidence: PCS. Frequency: 0/3. (PMID:31009037;PMID:35188035)
- Visual field defect (HP:0001123). Evidence: PCS. Frequency: 0/1. (PMID:35188035)
- Moderate hypermetropia (HP:0031729): A form of hypermetropia with more than +2.00 diopters but not more than +5.00 diopters. Evidence: PCS. Frequency: 1/3. (PMID:31009037)
- Compensatory face turn to the right (HP:0031707): A tendency to turn the face to the right to compensate for a limitation of eye movement. Evidence: PCS. Frequency: 1/1. (PMID:35188035)
- Mildly reduced visual acuity (HP:0032037): Mild reduction of the ability to see. On the 6m visual acuity scale, mild reduction is defined as less than 6/12 but at least 6/18. On the 20ft visual acuity scale, mild reduction is defined as less than 20/40 but at least 20/70. On the decimal visual acuity scale, mild reduction is defined as less than 0.5 but at least 0.3. Evidence: PCS. Frequency: 1/3. (PMID:31009037)
- Absent foveal reflex (HP:0030825): Absent reflectivity of the fovea, which normally is a bright pinpoint of light that is observed to move sideways or up and down in response to movement of the opthalmoscope. Evidence: PCS. Frequency: 4/4. (PMID:31009037;PMID:35188035)
- Compensatory head tilt to the left shoulder (HP:0031710): A tendency to tilt the head towards the left shoulder to compensate for a limitation of eye movement. Evidence: PCS. Frequency: 1/3. (PMID:31009037)
- Moderately reduced visual acuity (HP:0030515): Moderate reduction of the ability to see. On the 6m visual acuity scale, moderate reduction is defined as less than 6/18 but at least 6/60. On the 20ft visual acuity scale, moderate reduction is defined as less than 20/70 but at least 20/200. On the decimal visual acuity scale, moderate reduction is defined as less than 0.3 but at least 0.1. Evidence: PCS. Frequency: 2/3. (PMID:31009037)
- Nystagmus (HP:0000639): Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. Evidence: PCS. Frequency: 0/1. (PMID:35188035)
- Hypoplasia of the fovea (HP:0007750): Underdevelopment of the fovea centralis. Evidence: PCS. Frequency: 3/3. (PMID:31009037;PMID:35188035)
- Accommodative esotropia (HP:0020046): A form of esotropia (convergent deviation of the eyes) associated with activation of the accommodative reflex. Evidence: PCS. Frequency: 3/3. (PMID:31009037)
- High hypermetropia (HP:0008499): A severe form of hypermetropia with over +5.00 diopters. Evidence: PCS. Frequency: 2/3. (PMID:31009037)
- Photophobia (HP:0000613): Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light. Evidence: PCS. Frequency: 1/1. (PMID:35188035)
- Reduced visual acuity (HP:0007663). Evidence: PCS. Frequency: 0/1. (PMID:35188035)
- 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:31009037)
- Compensatory chin elevation (HP:0001477): A tendency to hold the chin elevated by about 20 to 30 degrees to compensate for a limitation of eye movement. Evidence: PCS. Frequency: 2/4. (PMID:31009037;PMID:35188035)
- Abnormal anterior eye segment morphology (HP:0004328): An abnormality of the anterior segment of the eyeball (which comprises the structures in front of the vitreous humor: the cornea, iris, ciliary body, and lens). Evidence: PCS. Frequency: 0/3. (PMID:31009037)
- Abnormal electroretinogram (HP:0000512): Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography. Evidence: PCS. Frequency: 0/2. (PMID:31009037)
- Horizontal nystagmus (HP:0000666): Nystagmus consisting of horizontal to-and-fro eye movements. Evidence: PCS. Frequency: 3/3. (PMID:31009037)
- Neonatal onset (HP:0003623): Onset of signs or symptoms of disease within the first 28 days of life. Evidence: PCS. Frequency: 4/4. (PMID:31009037;PMID:35188035)