Phenotypes associated with the disease Jalili syndrome (OMIM:217080):
- Carious teeth (HP:0000670): Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries. Evidence: PCS. Frequency: 5/6. (PMID:19200527)
- Monochromacy (HP:0007803): Complete color blindness, a complete inability to distinguish colors. Affected persons cannot perceive colors, but only shades of gray. Evidence: TAS. (OMIM:217080)
- Retinal pigment epithelial mottling (HP:0007814): Mottling (spots or blotches of different shades) of the retinal pigment epithelium, i.e., localized or generalized fundus pigment granularity associated with processes at the level of the retinal pigment epithelium. Evidence: PCS. Frequency: 2/6. (PMID:19200527)
- Spicular pigmentation of the retina (HP:0007737): Pigment migration into the retina in a bone-spicule configuration (resembling the nucleated cells within the lacuna of bone). Evidence: PCS. Frequency: 1/6. (PMID:19200527)
- Nyctalopia (HP:0000662): Inability to see well at night or in poor light. Evidence: PCS. Frequency: 3/6. (PMID:19200527)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. (PMID:19200527)
- Enamel agenesis (HP:0033785): Complete or almost complete absence of enamel. Evidence: PCS. Frequency: 6/6. (PMID:19200527)
- Nystagmus (HP:0000639): Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. Evidence: PCS. Frequency: 5/6. (PMID:19200527)
- Pendular nystagmus (HP:0012043): Rhythmic, involuntary sinusoidal oscillations of one or both eyes. The waveform of pendular nystagmus may occur in any direction. Evidence: PCS. Frequency: 2/6. (PMID:19200527)
- Yellow-brown discoloration of the teeth (HP:0006286). Evidence: PCS. Frequency: 6/6. (PMID:19200527)
- 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: 5/6. (PMID:19200527)
- High hypermetropia (HP:0008499): A severe form of hypermetropia with over +5.00 diopters. Evidence: PCS. Frequency: 2/6. (PMID:19200527)
- 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:19200527)
- Visual impairment (HP:0000505): Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery. Evidence: PCS. Frequency: 6/6. (PMID:19200527)
- Cone/cone-rod dystrophy (HP:0000548). Evidence: IEA. (OMIM:217080)
- Macular atrophy (HP:0007401): A nonspecific term denoting wasting, especially as a result of degeneration, of the retinal pigment epithelium (RPE) and neurosensory retinal cells in the macula. Evidence: PCS. Frequency: 3/6. (PMID:19200527)
- Optic disc pallor (HP:0000543): A pale yellow discoloration of the optic disc (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression. Evidence: PCS. Frequency: 2/6. (PMID:19200527)
- Attenuation of retinal blood vessels (HP:0007843): Narrowing of the retinal blood vessels, both arterioles and venules. Evidence: PCS. Frequency: 3/6. (PMID:19200527)
- Scotoma (HP:0000575): A regional and pathological increase of the light detection threshold in any region of the visual field surrounded by a field of normal or relatively well-preserved vision. Evidence: PCS. Frequency: 1/6. (PMID:19200527)