FRAXE syndrome

FRAXE syndrome (also known as fragile XE syndrome) is a trinucleotide disease and is a congenital non-syndromic disease characterized by mild mental retardation.

It is the most common form of NS-XLMR and is manifested when the number of CGG repeats in the 5 'UTR of the AFF2 gene at locus Xq28 exceeds 200. The inheritance is X-linked recessive.

The main symptoms of the disease are hyperactivity, learning and communication disorders, autistic behavior and attention deficit disorders.

FRAXE syndrome (also known as fragile XE syndrome) is a trinucleotide disease and is a congenital non-syndromal disease characterized by mildly expressed mental retardation. It is the most common form of NS-XLMR and is manifested when the number of CGG repeats in the 5 'UTR of the AFF2 gene at locus Xq28 is more than 200. The mode of inheritance is X-linked recessive. The guiding symptoms of the disease are hyperactivity, learning and communication disorders, autistic behavior and attention deficit disorders.