X-linked intellectual disability with macroorchidism.
- Specialty
- Endocrinology
- Subspecialty
- Endocrinology / Genetic endocrinology
- Sex & age distribution
- Male: affected; Female: affected, milder; Children: yes
- Gene(s) involved
- FMR1
- Alternative names & eponyms
- Martin–Bell syndrome
Etiology & mechanism
FMR1 CGG repeat expansion silences gene.
Gene(s) involved (1)
Symptoms & signs (8)
In plain terms, someone with Fragile X syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
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Shares symptoms with
2 shared
Börjeson–Forssman–Lehmann syndrome
intellectual disability, large ears
2 shared
Borjeson–Forssman–Lehmann syndrome
intellectual disability, large ears
2 shared
Lujan–Fryns syndrome
intellectual disability, long face
2 shared
Potocki–Lupski syndrome
autism, intellectual disability
2 shared
Schaaf–Yang syndrome
autism, intellectual disability
1 shared
Aarskog–Scott syndrome
joint laxity
1 shared
Allan–Herndon–Dudley syndrome
intellectual disability
1 shared
Aniridia-Wilms tumor-genitourinary anomalies-retardation syndrome
intellectual disability
1 shared
Apert syndrome
intellectual disability
1 shared
Arterial tortuosity syndrome
joint laxity
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