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Coronary cataract
- ... be lethal very early in development. MCOPS2 Microphthalmia, cataracts, radiculomegaly, and septal heart defects Microphthalmia, syndromic 2 Oculo-facio-cardio-dental ...
- ... active in the lens of the eye, the heart, and the kidneys. It is unclear how variants in the HYCC1 gene cause cataracts.Most HYCC1 gene variants that cause hypomyelination and ...
- ... eye problems such as clouding of the lenses (cataracts). Less frequently, 1q21.1 microdeletions are associated with heart defects, abnormalities of the genitalia or urinary system, ...
- ... active in the lens of the eye, the heart, and the kidneys; however, the protein's function in these tissues is unclear. At least four variants (also called mutations) in the HYCC1 gene have been found to cause hypomyelination and congenital cataract. Most variants delete a large portion of the ...
- ... symptoms of myofibrillar myopathy can include a weakened heart muscle (cardiomyopathy), muscle ... is unknown. Mutations ...
- ... other organs and tissues, such as the liver, heart, and kidneys, and their ... of the eyes (cataracts) or involuntary, side-to-side movements of the ...
- ... pump blood efficiently. Some affected children also have heart defects ... of the eyes (cataracts) or other eye abnormalities, which may reduce their ...
- ... as clouding of the lens of the eyes (cataracts), increased pressure in the eyes (glaucoma), or eyes that do not look in the same direction (strabismus). Affected individuals may also have kidney abnormalities; structural defects of the heart; and, in males, the opening of the urethra ...
- ... loss; clouding of the lens of the eye (cataract); a single, horseshoe-shaped kidney; and, in affected ... disorder in their family. Cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, and skeletal ...
- ... include clouding of the lens of the eye (cataracts) and abnormalities of the electrical signals that control ... adulthood. Affected individuals typically have mild myotonia and cataracts. Congenital myotonic dystrophy is often apparent at birth. ...