Phenotypes associated with the disease macular degeneration, age-related, 3 (OMIM:608895):
- Peripheral axonal neuropathy (HP:0003477): An abnormality characterized by disruption of the normal functioning of peripheral axons. Evidence: PCS. Frequency: 18/18. (PMID:21576112)
- Decreased patellar reflex (HP:0011808): Decreased intensity of the patellar reflex (also known as the knee jerk reflex). Evidence: PCS. Frequency: 18/23. (PMID:21576112)
- Middle age onset (HP:0003596): A type of adult onset with onset of symptoms at the age of 40 to 60 years. Evidence: PCS. Frequency: 4/18. (PMID:21576112)
- Choroidal neovascularization (HP:0011506): Choroidal neovascularization (CNV) is the inward growth of new blood vessels arising from the choriocapillaris. Depending on the stage of development, they can be external (type 1 NV) or internal (type 2 NV) to the retinal pigment epithelium. Evidence: PCS. (PMID:21576112)
- Pes cavus (HP:0001761): An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight). Evidence: PCS. (PMID:21576112)
- Joint hypermobility (HP:0001382): The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes. Evidence: PCS. Frequency: 2/18. (PMID:21576112)
- Distal amyotrophy (HP:0003693): Muscular atrophy affecting muscles in the distal portions of the extremities. Evidence: PCS. Frequency: 18/22. (PMID:21576112)
- Late onset (HP:0003584): A type of adult onset with onset of symptoms after the age of 60 years. Evidence: PCS. Frequency: 7/18. (PMID:21576112)
- Distal muscle weakness (HP:0002460): Reduced strength of the musculature of the distal extremities. Evidence: PCS. Frequency: 18/22. (PMID:21576112)
- Drusen (HP:0011510): Drusen (singular, 'druse') are tiny yellow or white accumulations of extracellular material (lipofuscin) that build up in the Bruch membrane of the eye. Evidence: PCS. (PMID:15269314)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: IEA. Frequency: 2/18. (PMID:21576112)
- Macular degeneration (HP:0000608): A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells of the macula lutea. Evidence: PCS. Frequency: 9/19. Onset: Late onset (HP:0003584). (PMID:15269314)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 5/18. (PMID:21576112)
- Distal sensory impairment (HP:0002936): An abnormal reduction in sensation in the distal portions of the extremities. Evidence: PCS. Frequency: Very frequent (HP:0040281). (PMID:21576112)
- Decreased nerve conduction velocity (HP:0000762): A reduction in the speed at which electrical signals propagate along the axon of a neuron. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:608895)
- Hyperextensible skin (HP:0000974): A condition in which the skin can be stretched beyond normal, and then returns to its initial position. Evidence: PCS. Frequency: 4/18. (PMID:21576112)
- 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: TAS. (OMIM:608895)