Phenotypes associated with the disease chromosome 16q12 duplication syndrome (OMIM:619649):
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 2/8. (PMID:33891002)
- 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: 5/16. (PMID:33891002)
- Tritanomaly (HP:0000552): Difficulty distinguishing between yellow and blue, possible related to dysfunction of the S photopigment. Evidence: PCS. Frequency: 15/15. (PMID:33891002)
- Nyctalopia (HP:0000662): Inability to see well at night or in poor light. Evidence: PCS. Frequency: 4/16. (PMID:33891002)
- Anisocoria (HP:0009916): Anisocoria, or unequal pupil size, may represent a benign physiologic variant or a manifestation of disease. Evidence: PCS. Frequency: 1/16. (PMID:33891002)
- Central thinning of the outer nuclear layer of the retina (HP:6000367): Reduced thickness of the outer nuclear layer in the middle region of the retina. The outer nuclear layer (ONL) of the retina contains the nuclei of the cone and rod photoreceptors. Loss of the cellular machinery found in these nuclei causes irreparable loss of the photoreceptors and the capacity for visual function. This feature can be appreciated by directional optical coherence tomography. Evidence: PCS. Frequency: 5/16. (PMID:33891002)
- High myopia (HP:0011003): A severe form of myopia with greater than -6.00 diopters. Evidence: PCS. Frequency: 5/16. (PMID:33891002)
- Paracentral scotoma (HP:0030528). Evidence: PCS. Frequency: 4/16. (PMID:33891002)
- Temporal optic disc pallor (HP:0012511): A pale yellow discoloration of the temporal (lateral) portion of the optic disc. Evidence: PCS. Frequency: 3/16. (PMID:33891002)
- Paracentral hyper-autofluorecence (HP:6000769): Increased autofluorescence in areas adjacent to the central macula (but not including the very center). Evidence: PCS. Frequency: 9/16. (PMID:33891002)
- Cataract (HP:0000518): A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. Evidence: PCS. Frequency: 4/16. Onset: Adult onset (HP:0003581). (PMID:33891002)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 6/8. (PMID:33891002)
- 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. (PMID:33891002)
- Reduced visual acuity (HP:0007663). Evidence: PCS. Frequency: 15/16. (PMID:33891002)
- 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:33891002)