- Cataract (HP:0000518): A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1345)
- Hypertension (HP:0000822): The presence of chronic increased pressure in the systemic arterial system. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1345)
- Platyspondyly (HP:0000926): A flattened vertebral body shape with reduced distance between the vertebral endplates. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1345)
- Joint stiffness (HP:0001387): Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1345)
- Congestive heart failure (HP:0001635): The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1345)
- Hypertrophic cardiomyopathy (HP:0001639): Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1345)
- Abnormal heart valve morphology (HP:0001654): Any structural abnormality of a cardiac valve. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1345)
- Pulmonary embolism (HP:0002204): An embolus (that is, an abnormal particle circulating in the blood) located in the pulmonary artery and thereby blocking blood circulation to the lung. Usually the embolus is a blood clot that has developed in an extremity (for instance, a deep venous thrombosis), detached, and traveled through the circulation before becoming trapped in the pulmonary artery. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1345)
- Skeletal dysplasia (HP:0002652): A general term describing features characterized by abnormal development of bones and connective tissues. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1345)
- Osteoarthritis (HP:0002758): Degeneration (wear and tear) of articular cartilage, i.e., of the joint surface. Joint degeneration may be accompanied by osteophytes (bone overgrowth), narrowing of the joint space, regions of sclerosis at the joint surface, or joint deformity. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1345)
- Arterial thrombosis (HP:0004420): The formation of a blood clot inside an artery. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1345)
- Abnormal intervertebral disk morphology (HP:0005108): Any structural abnormality of the intervertebral disk. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1345)
- Avascular necrosis (HP:0010885): A disease where there is cellular death (necrosis) of bone components due to interruption of the blood supply. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1345)
- Arrhythmia (HP:0011675): Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1345)
These phenotypes are associated with the disease Cardiomyopathy-cataract-hip spine disease syndrome (ORPHA:1345).