Phenotypes associated with the disease oculoauricular syndrome (OMIM:612109):
- Absent earlobe (HP:0000387): Absence of fleshy non-cartilaginous tissue inferior to the tragus and incisura. Evidence: PCS. Frequency: 1/3. (PMID:18423520)
- Retinal detachment (HP:0000541): Separation of the inner layers of the retina (neural retina) from the pigment epithelium. Evidence: PCS. Frequency: 1/3. (PMID:18423520)
- Retinal coloboma (HP:0000480): A notch or cleft of the retina or choroid, located vertically below the optic disc. Evidence: PCS. Frequency: 1/2. (PMID:25574057)
- Spina bifida occulta (HP:0003298): The closed form of spina bifida with incomplete closure of a vertebral body with intact overlying skin. Evidence: PCS. Frequency: 1/3. (PMID:18423520)
- Microcornea (HP:0000482): A congenital abnormality of the cornea in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood. Evidence: PCS. Frequency: 3/5. (PMID:18423520;PMID:25574057)
- Microphakia (HP:0012376): Abnormal smallness of the lens. Evidence: PCS. Frequency: 2/3. (PMID:18423520)
- 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: 3/3. (PMID:18423520)
- Nystagmus (HP:0000639): Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. Evidence: PCS. Frequency: 1/3. (PMID:18423520)
- Nystagmus (HP:0000639): Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. Evidence: PCS. Frequency: 1/2. Onset: Congenital onset (HP:0003577). (PMID:25574057)
- Posterior synechiae of the anterior chamber (HP:0011484): Adhesions between the iris and the lens. Evidence: PCS. Frequency: 1/3. (PMID:18423520)
- Ultra-low vision with retained light perception (HP:0032286): Ultra-low vision but with retained ability to perceive the difference between light and dark. Evidence: PCS. Frequency: 1/3. (PMID:18423520)
- Developmental cataract (HP:0000519): A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens. Evidence: PCS. Frequency: 2/2. Onset: Congenital onset (HP:0003577). (PMID:25574057)
- Iris coloboma (HP:0000612): A coloboma of the iris. Evidence: PCS. Frequency: 3/3. (PMID:18423520)
- Morning glory anomaly (HP:0025514): An abnormality of the optic nerve in which the optic nerve is large and funneled and displays a conical excavation of the optic disc. The optic disc appears dysplastic. Evidence: PCS. Frequency: 2/3. (PMID:18423520)
- Nasolacrimal duct obstruction (HP:0000579): Blockage of the lacrimal duct. Evidence: PCS. Frequency: 1/2. (PMID:25574057)
- Macular hypoplasia (HP:0001104): Underdevelopment of the macula lutea. Evidence: PCS. Frequency: 1/3. (PMID:18423520)
- Rod-cone dystrophy (HP:0000510): An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones. Evidence: TAS. (OMIM:612109)
- Ocular anterior segment dysgenesis (HP:0007700): Abnormal development (dysgenesis) of the anterior segment of the eye globe. These structures are mainly of mesenchymal origin. Evidence: PCS. Frequency: 1/3. (PMID:18423520)
- Exodeviation (HP:0020049): A manifest or latent ocular deviation in which one or both eyes tends to deviate temporally. Evidence: PCS. Frequency: 1/2. (PMID:25574057)
- Chorioretinal atrophy (HP:0000533): Atrophy (wasting) of the choroid and retinal layers of the fundus. Evidence: PCS. Frequency: 1/3. (PMID:18423520)
- Congenital nystagmus (HP:0006934): Nystagmus dating from or present at birth. Evidence: PCS. Frequency: 1/3. (PMID:18423520)
- Ocular hypertension (HP:0007906): Intraocular pressure that is 2 standard deviations above the population mean. Evidence: TAS. (OMIM:612109)
- Iris cyst (HP:0011523): An iris cyst is composed of a single cell layer of epithelium and is filled with fluid. Evidence: PCS. Frequency: 1/3. (PMID:18423520)
- Posterior embryotoxon (HP:0000627): A posterior embryotoxon is the presence of a prominent and anteriorly displaced line of Schwalbe. Evidence: PCS. Frequency: 2/2. (PMID:25574057)
- 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:18423520)
- Microphthalmia (HP:0000568): A developmental anomaly characterized by abnormal smallness of one or both eyes. Evidence: PCS. Frequency: 3/3. (PMID:18423520)
- Phthisis bulbi (HP:0000667): Atrophy of the eyeball with blindness and decreased intraocular pressure due to end-stage intraocular disease. Evidence: PCS. Frequency: 1/3. (PMID:18423520)
- Cone/cone-rod dystrophy (HP:0000548). Evidence: PCS. Frequency: 1/3. (PMID:18423520)
- Sclerocornea (HP:0000647): A congenital anomaly in which a part or the whole of the cornea acquires the characteristics of sclera, resulting in clouding of the cornea. Evidence: PCS. Frequency: 3/5. (PMID:18423520;PMID:25574057)
- Short mandibular rami (HP:0003778). Evidence: PCS. Frequency: 1/3. (PMID:18423520)
- Chorioretinal coloboma (HP:0000567): Absence of a region of the retina, retinal pigment epithelium, and choroid. Evidence: PCS. Frequency: 1/3. (PMID:18423520)
- Horizontal nystagmus (HP:0000666): Nystagmus consisting of horizontal to-and-fro eye movements. Evidence: PCS. Frequency: 1/3. (PMID:18423520)
- Stenosis of the external auditory canal (HP:0000402): An abnormal narrowing of the external auditory canal. Evidence: PCS. Frequency: 1/3. (PMID:18423520)
- Low-set ears (HP:0000369): Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear. Evidence: PCS. Frequency: 2/2. (PMID:25574057)