Search for a rare disease
FRAXE intellectual disability
FRAXE is a form of nonsyndromic X-linked mental retardation (NS-XLMR) characterized by mild intellectual deficit. FRAXE is the most common form of NS-XLMR.
The estimated prevalence in the general population is between 1 in 100,000 and 1 in 150,000.
FRAXE manifests in individuals with more than 200 CCG repeats in the 5' UTR of the AFF2 gene (Xq28).