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Congenital anomaly of eye
- ... affect chloride ion transport or lead to the eye abnormalities characteristic of ADVIRC. Researchers suspect that the abnormalities ... gene have been found in individuals who have eye abnormalities such as increased pressure in the eyes (glaucoma); ...
- ... in the EYA1 gene have been associated with eye abnormalities including clouding of the lens (cataracts) and clouding ... believe that the EYA1 gene mutations responsible for eye abnormalities have less severe effects on protein function than ...
- ... condition characterized by kidney disease, hearing loss, and eye abnormalities. Most of these variants change single protein building ... of the condition can have hearing loss and eye abnormalities in addition to kidney problems. More About This ...
- ... condition characterized by kidney disease, hearing loss, and eye abnormalities. Most of these variants change single protein building ... of the condition can have hearing loss and eye abnormalities in addition to kidney problems. More About This ...
- ... to multiple bone fractures. Affected individuals also have eye abnormalities that cause vision impairment from birth or early ... normal retinal development, leading to the bone and eye abnormalities characteristic of osteoporosis-pseudoglioma syndrome. It is unclear ...
- ... that causes skeletal muscle weakness and brain and eye abnormalities. This form of congenital muscular dystrophy is seen ... Walker-Warburg syndrome have more severe brain and eye abnormalities and live only into infancy or early childhood. ...
- ... small-vessel disease is characterized by stroke and eye abnormalities. Most of the identified COL4A1 gene mutations that ... throughout the body, kidney disease, muscle cramps, and eye abnormalities. Most of the identified COL4A1 gene mutations that ...
- ... coloboma syndrome, the PAX2 gene variants associated with eye abnormalities likely disrupt regulation of genes that help direct normal eye development. Researchers are working to understand why variants in this gene can affect ... F, Montini G. Genetics of Congenital Anomalies of the Kidney and Urinary Tract: The Current ...
- ... the lenses of the eyes (cataracts) or other eye abnormalities; intellectual disability; and movement problems that can worsen ...
- ... typically involves neurological problems and can include nephronophthisis, eye abnormalities, liver disease, and other abnormalities. As in nephronophthisis ...
