fragile X syndrome
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.
MONDO:0005027
epilepsy
excluded_subClassOf
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
excluded_subClassOf
MONDO:0015368
obsolete neuro-ophthalmological disease (obsolete MONDO:0015368)
excluded_subClassOf
MONDO:0016565
obsolete syndromic genetic obesity (obsolete MONDO:0016565)
excluded_subClassOf
MONDO:0017656
obsolete motor stereotypies (obsolete MONDO:0017656)
excluded_subClassOf
MONDO:0020119
X-linked syndromic intellectual disability
excluded_subClassOf
MONDO:0002254
syndromic disease
is_a
MONDO:0003847
hereditary disease
is_a
FRAXA syndrome
exact
FXS
exact
FraX syndrome
exact
Fragile X syndrome, X-linked dominant
exact
Martin-Bell syndrome
exact
X-linked mental retardation and macroorchidism
related
fra(X) syndrome
related
fragile 10 mental retardation syndrome
related
fragile X intellectual disability syndrome
exact
fragile X syndrome
exact
marker X syndrome
exact
mental retardation, X-linked, associated with Marxq28
related