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Fragile X syndrome

rare

A genetic syndrome caused by mutations in the FMR1 gene which is responsible for the expression of the fragile X mental retardation 1 protein. This protein participates in neural development. This syndrome is manifested with mental, emotional, behavioral, physical, and learning disabilities.

Identifiers
MONDO:0010383 OMIM:300624Orphanet:908
Causal genes
FMR1
Part of
Hereditary diseaseSyndromic disease
Also known as
fra(X) syndrome · fragile 10 mental retardation syndrome · fragile X intellectual disability syndrome · Fragile X syndrome, X-linked dominant · FraX syndrome

Subtypes

All diseases Rare only
Disease Subtypes
Fragile X syndrome type 1
Fragile X syndrome type 2
Fragile X syndrome type 3
Symptomatic form of fragile X syndrome in female carrier

Projects

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