- Arachnodactyly (HP:0001166): Abnormally long and slender fingers (spider fingers). Evidence: PCS. Frequency: 4/37. (PMID:33576469;PMID:8188302;PMID:12446365;PMID:22219643;PMID:32404357;PMID:22539873;PMID:22736615)
- Shallow anterior chamber (HP:0000594): Reduced depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is decreased. Evidence: PCS. Frequency: 6/6. (PMID:32404357)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 3/12. (PMID:33576469;PMID:22736615)
- Tall stature (HP:0000098): A height above that which is expected according to age and gender norms. Evidence: PCS. Frequency: 1/23. (PMID:33576469;PMID:8188302;PMID:22219643;PMID:32404357;PMID:22539873)
- 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: 5/7. (PMID:32404357;PMID:22736615)
- Retinal detachment (HP:0000541): Separation of the inner layers of the retina (neural retina) from the pigment epithelium. Evidence: PCS. Frequency: 7/44. (PMID:33576469;PMID:8188302;PMID:12446365;PMID:22219643;PMID:32404357;PMID:22539873;PMID:31527767;PMID:22736615)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: PCS. Frequency: 1/31. (PMID:33576469;PMID:12446365;PMID:22219643;PMID:32404357;PMID:22539873;PMID:22736615)
- Strabismus (HP:0000486): A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error. Evidence: PCS. Frequency: 3/30. (PMID:33576469;PMID:8188302;PMID:12446365;PMID:22219643;PMID:22736615)
- Microspherophakia (HP:0030961): Microspherophakia is a rare congenital anomaly characterized by the abnormal spherical shape of the crystalline lens. It is characterized by an increased anteroposterior thickness of the lens associated with reduced equatorial diameter. The primary pathology lies in the development of zonules. The condition is often bilateral and is characterized by small, thick, and spherical lenses. Evidence: PCS. Frequency: 6/6. (PMID:32404357)
- 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: 7/37. (PMID:33576469;PMID:8188302;PMID:12446365;PMID:22219643;PMID:32404357;PMID:22539873;PMID:22736615)
- Adult onset (HP:0003581): Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later. Evidence: PCS. Frequency: 5/5. (PMID:8188302;PMID:22539873)
- Striae distensae (HP:0001065): Thinned, erythematous, depressed bands of atrophic skin. Initially, striae appear as flattened and thinned, pinkish linear regions of the skin. Striae tend to enlarge in length and become reddish or purplish. Later, striae tend to appear as white, depressed bands that are parallel to the lines of skin tension. Striae distensae occur most often in areas that have been subject to distension such as the lower back, buttocks, thighs, breast, abdomen, and shoulders. Evidence: PCS. Frequency: 6/29. (PMID:8188302;PMID:12446365;PMID:22219643;PMID:32404357;PMID:22539873;PMID:22736615)
- Ectopia lentis (HP:0001083): Dislocation or malposition of the crystalline lens of the eye. A partial displacement (or dislocation) of the lens is described as a subluxation of the lens, while a complete displacement is termed luxation of the lens. A complete displacement occurs if the lens is completely outside the patellar fossa of the lens, either in the anterior chamber, in the vitreous, or directly on the retina. If the lens is partially displaced but still contained within the lens space, then it is termed subluxation. Evidence: PCS. Frequency: 51/57. (PMID:33576469;PMID:8188302;PMID:12446365;PMID:22219643;PMID:15054843;PMID:32404357;PMID:22539873;PMID:22736615;PMID:31527767)
- Reduced upper to lower segment ratio (HP:0012773): Decreased ratio between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis. Consider the term Disproportionate tall stature (HP:0001519) if tall stature is also present. Evidence: PCS. Frequency: 7/37. (PMID:33576469;PMID:8188302;PMID:12446365;PMID:22219643;PMID:32404357;PMID:22539873;PMID:22736615)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 6/8. (PMID:33576469)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 1/4. (PMID:22736615)
- Aortic root aneurysm (HP:0002616): An abnormal localized widening (dilatation) of the aortic root. Evidence: PCS. Frequency: 0/44. (PMID:33576469;PMID:8188302;PMID:12446365;PMID:22219643;PMID:32404357;PMID:22539873;PMID:31527767;PMID:22736615)
- Pectus excavatum (HP:0000767): A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance. Evidence: PCS. Frequency: 3/37. (PMID:33576469;PMID:8188302;PMID:12446365;PMID:22219643;PMID:32404357;PMID:22539873;PMID:22736615)
- High palate (HP:0000218): Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective). Evidence: PCS. Frequency: 4/37. (PMID:33576469;PMID:8188302;PMID:12446365;PMID:22219643;PMID:32404357;PMID:22539873;PMID:22736615)
- Pectus carinatum (HP:0000768): A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum. Evidence: PCS. Frequency: 1/37. (PMID:33576469;PMID:8188302;PMID:12446365;PMID:22219643;PMID:32404357;PMID:22539873;PMID:22736615)
- 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. Frequency: 20/20. (PMID:15054843;PMID:22736615)
- Glaucoma (HP:0000501): Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure. Evidence: PCS. Frequency: 6/43. (PMID:33576469;PMID:8188302;PMID:12446365;PMID:22219643;PMID:32404357;PMID:31527767;PMID:22736615)
- 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: PCS. Frequency: 1/31. (PMID:33576469;PMID:8188302;PMID:12446365;PMID:22219643;PMID:22539873;PMID:22736615)
- Myopia (HP:0000545): An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry. Evidence: PCS. Frequency: 30/38. (PMID:33576469;PMID:8188302;PMID:12446365;PMID:22219643;PMID:32404357;PMID:31527767;PMID:22736615)
These phenotypes are associated with the disease ectopia lentis 1, isolated, autosomal dominant (OMIM:129600).