Phenotypes associated with the disease hypotaurinemic retinal degeneration and cardiomyopathy (OMIM:145350):
- 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: 1/2. (PMID:31903486)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 2/2. (PMID:31345061)
- Left ventricular systolic dysfunction (HP:0025169): Abnormality of left ventricular contraction, often defined operationally as an ejection fraction of less than 40 percent. Evidence: PCS. Frequency: 2/2. (PMID:31903486)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 2/2. (PMID:31903486)
- Photoreceptor layer loss on macular OCT (HP:0030609): Loss of the outer nuclear layer (photoreceptor layer) as assessed by ocular coherence tomography. Evidence: PCS. Frequency: 4/4. (PMID:31345061;PMID:31903486)
- Retinal thinning on OCT (HP:0030329): Reduced anteroposterior thickness of the retina. This phenotype can be appreciated by retinal optical coherence tomography (OCT). Evidence: PCS. Frequency: 2/2. (PMID:31345061)
- Peripheral retinal atrophy (HP:0200070): A nonspecific term denoting wasting, especially as a result of degeneration, of the peripheral retinal pigment epithelium (RPE) and neurosensory retinal cells. Evidence: PCS. Frequency: 2/2. (PMID:31903486)
- Nystagmus (HP:0000639): Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. Evidence: PCS. Frequency: 2/2. (PMID:31345061)
- Hypotaurinemia (HP:0500182): A decreased amount of taurine in the blood. Evidence: PCS. Frequency: 4/4. (PMID:31345061;PMID:31903486)
- High hypermetropia (HP:0008499): A severe form of hypermetropia with over +5.00 diopters. Evidence: PCS. Frequency: 2/2. (PMID:31345061)
- Peripheral visual field loss (HP:0007994): Loss of peripheral vision with retention of central vision, resulting in a constricted circular tunnel-like field of vision. Evidence: PCS. Frequency: 2/2. (PMID:31345061)
- 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: 2/2. (PMID:31903486)
- Attenuation of retinal blood vessels (HP:0007843): Narrowing of the retinal blood vessels, both arterioles and venules. Evidence: PCS. Frequency: 2/2. (PMID:31345061)
- 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:31903486)
- Mitral valve prolapse (HP:0001634): One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle. Evidence: TAS. (OMIM:145350)
- Dilated cardiomyopathy (HP:0001644): Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular dilatation and left ventricular systolic dysfunction in the absence of abnormal loading conditions (hypertension, valve disease) or coronary artery disease sufficient to cause global systolic impairment. Right ventricular dilation and dysfunction may be present but are not necessary for the diagnosis. Evidence: PCS. Frequency: 2/2. (PMID:31903486)