- Constriction of peripheral visual field (HP:0001133, a Human Phenotype Ontology term): An absolute or relative decrease in retinal sensitivity extending from edge (periphery) of the visual field in a concentric pattern. The visual field is the area that is perceived simultaneously by a fixating eye. Evidence: PCS. (PMID:32386558)
- Nyctalopia (HP:0000662, a Human Phenotype Ontology term): Inability to see well at night or in poor light. Evidence: PCS. (PMID:32386558)
- Hyperautofluorescent retinal lesion (HP:0025158, a Human Phenotype Ontology term): Increased amount of autofluorescence in the retina as ascertained by fundus autofluorescence imaging. Evidence: PCS. (PMID:32386558)
- Hepatic fibrosis (HP:0001395, a Human Phenotype Ontology term): The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process. Evidence: PCS. Frequency: 1/6. (PMID:32386558)
- Abnormal light-adapted flicker electroretinogram (HP:0030473, a Human Phenotype Ontology term). Evidence: PCS. (PMID:32386558)
- Esophageal varix (HP:0002040, a Human Phenotype Ontology term): Extreme dilation of the submucusoal veins in the lower portion of the esophagus. Evidence: PCS. Frequency: 1/6. Onset: Infantile onset (HP:0003593, a Human Phenotype Ontology term). (PMID:32386558)
- Intrahepatic bile duct dilatation (HP:0033149, a Human Phenotype Ontology term): Increased diameter (caliber) of intrahepatic bile ducts (bile ducts that transport bile between the Canals of Hering and the interlobar bile ducts). Evidence: IEA. Frequency: 1/6. (PMID:32386558)
- Retinal thinning on OCT (HP:0030329, a Human Phenotype Ontology term): Reduced anteroposterior thickness of the retina. This phenotype can be appreciated by retinal optical coherence tomography (OCT). Evidence: PCS. (PMID:32386558)
- Postaxial polydactyly (HP:0100259, a Human Phenotype Ontology term): A form of polydactyly in which the extra digit or digits are localized on the side of the fifth finger or fifth toe. Evidence: PCS. (PMID:32386558)
- Childhood onset (HP:0011463, a Human Phenotype Ontology term): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. (PMID:32386558)
- Bicuspid aortic valve (HP:0001647, a Human Phenotype Ontology term): The presence of an aortic valve with two instead of the normal three cusps (flaps). Bicuspid aortic valvue is a malformation of a commissure (small space between the attachment of each cusp to the aortic wall) and the adjacent parts of the two corresponding cusps forming a raphe (the fused area of the two underdeveloped cusps turning into a malformed commissure between both cusps; the raphe is a fibrous ridge that extends from the commissure to the free edge of the two underdeveloped, conjoint cusps). Evidence: PCS. Frequency: 1/6. (PMID:32386558)
- Rod-cone dystrophy (HP:0000510, a Human Phenotype Ontology term): 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: PCS. (PMID:32386558)
- Hepatosplenomegaly (HP:0001433, a Human Phenotype Ontology term): Simultaneous enlargement of the liver and spleen. Evidence: PCS. Frequency: 1/6. (PMID:32386558)
- Autosomal dominant inheritance (HP:0000006, a Human Phenotype Ontology term): 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: TAS. (PMID:32386558)
- Micronodular cirrhosis (HP:0001413, a Human Phenotype Ontology term): A type of cirrhosis characterized by the presence of small regenerative nodules. Evidence: PCS. Frequency: 1/6. (PMID:32386558)
These phenotypes are associated with the disease retinitis pigmentosa 89 (OMIM:618955, an entry in Online Mendelian Inheritance in Man).