FRAXE

Overview

Type of disease: Rare conditions

Fragile XE syndrome is a genetic condition associated with mild to borderline intellectual disabilities (IQ = 50-85) with physical features differing from person to person. The characteristic features are learning difficulties, often a consequence of communication problems (speech delay, poor writing skills), and overactivity. Fragile XE syndrome is caused by a specific type of change (mutation) called a trinucleotide repeat expansion that occurs on chromosome X. The repeating trinucleotide in Fragile XE syndrome is CCG. When the number of CCG repeats is over 200, people typically have the signs and symptoms seen in Fragile XE syndrome.

Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.