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Williams syndrome WS is a genetic disorder that affects many parts of the body. Williams syndrome is caused by a genetic abnormality, specifically a deletion of about 27 genes from the long arm of one of the two chromosome 7s. Treatment includes special education programs and various types of therapy. The most common symptoms of Williams syndrome are heart defects and unusual facial features. Other symptoms include failure to gain weight appropriately in infancy failure to thrive and low muscle tone.
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Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features
Alpha-thalassemia mental retardation syndrome - Wikipedia
Fragile X syndrome FXS is a genetic disorder. Fragile X syndrome is inherited in an X-linked dominant pattern. There is no cure. Most young children do not show any physical signs of FXS. Speech may be cluttered or nervous.
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Fragile X syndrome
For example, ATRX mutations affect the expression of alpha-globin gene cluster , causing alpha-thalassemia". They are also responsible for regulating gene expression at these regions. ATR association can be separated into two groups. ATR syndrome patients have a Mb deletion on the top of the chromosome 16 p-arm and are associated with a Mendelian inheritance of a-thalassemia. Epigenetics is also present among transcriptional regulators.
Genetic Disorders. General intellectual functioning is expressed by IQ. Typically, in children younger than 5 years old who present delays in the attainment of developmental milestones at the expected age, the term of "developmental delay" is used. Also, developmental delay is used before the age of 5,when IQ testing is reliable and valid and it takes into consideration learning and adaptive deficits which predict later intellectual disability.