The syndrome is characterized by mild mental retardation, speech delay, and reading and writing problems.
Early diagnosis based on clinical findings is difficult.
Developmental and speech delays combined with behavioral abnormalities are the most common problems in children. There is no consistent dysmorphology. Both standard cytogenetic and DNA analysis are recommended This approach allows the diagnosis of other chromosomal abnormalities which occur as frequently as the fragile X syndromes. Fragile XE family members who are at risk of carrying the mutation. DNA analysis is performed to detect the presence of the fragile XE mutation and to aid in counseling.