Martin-Bell syndrome; Marker X syndrome
Physical signs may include:
Some of these problems are present at birth, while others may not develop until after puberty.
Family members who have fewer repeats in the FMR1 gene may not have mental retardation, but may have other problems. Women with less severe changes may have premature menopause or difficulty becoming pregnant. Both men and women may have problems with tremors and poor coordination.
There are very few outward signs of Fragile X syndrome in babies. Some signs may include:
In females, excess shyness may be the only sign of the disorder.
Genetic testing can diagnose this disease.
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