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Abnormality of the kidney
- ... that are present from birth (congenital heart defects), kidney problems, genital abnormalities, and skin problems may also occur in this ...
- ... Less commonly, 17q12 duplications have been associated with abnormalities of the eyes, heart, kidneys, and brain. Some individuals with this chromosomal change ...
- ... reported include seizures that begin in childhood and abnormalities of the genitalia and kidneys. Snyder-Robinson syndrome is a rare condition; its ...
- ... sleep (sleep apnea).Affected individuals can also have abnormalities of organs such as the heart, kidneys, or genitals. Heart defects include problems with the ...
- ... characterized by inflammation and scarring (fibrosis) that impairs kidney function. These abnormalities lead to increased urine production (polyuria), excessive thirst ( ...
- ... Potocki-Shaffer syndrome causes vision problems, additional skeletal abnormalities, and defects in the heart, kidneys, and urinary tract. Potocki-Shaffer syndrome is a ...
- ... deficiency. It can occur with or without neurological abnormalities. Nephrotic syndrome occurs when damage to the kidneys impairs their function, which allows protein from the ...
- ... organs through the navel (omphalocele), heart defects, chest abnormalities, obstruction of the ducts between the kidneys and bladder (ureters), and, in males, opening of ...
- ... infants have an enlarged heart (cardiomegaly), an eye abnormality called a cherry-red spot, and kidney disease that can progress to kidney failure. Infants ...
- ... vision or hearing problems. Some affected individuals have abnormalities of the skeleton, heart, gastrointestinal system, kidneys, or genitalia. Life expectancy varies in people with ...