Research Evidence
Peer-reviewed studies linked via MeSH term "Fragile X Syndrome" from the MEDLINE/PubMed database.
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Clinical, Genetic and Molecular Divergences Between Full Mutation and Premutation in Fragile X Syndrome: A Systematic Review.
[object Object], [object Object], [object Object] · Int J Dev Neurosci · 2025
PMID: 40985503Meta-Analysis
Systematic Review: Fragile X Syndrome Across the Lifespan with a Focus on Genetics, Neurodevelopmental, Behavioral and Psychiatric Associations.
[object Object], [object Object] · Genes (Basel) · 2025
Brain volumes in genetic syndromes associated with mTOR dysregulation: a systematic review and meta-analysis.
[object Object], [object Object], [object Object] et al. · Mol Psychiatry · 2025
PMID: 39633008Meta-Analysis
Pharmacological management of fragile X syndrome: a systematic review and narrative summary of the current evidence.
[object Object], [object Object], [object Object] et al. · Expert Opin Pharmacother · 2024
PMID: 38393835Meta-Analysis
Carrier Screening Programs for Cystic Fibrosis, Fragile X Syndrome, Hemoglobinopathies and Thalassemia, and Spinal Muscular Atrophy: A Health Technology Assessment.
[object Object] · Ont Health Technol Assess Ser · 2023
A Systematic Review of Fragile X-Associated Neuropsychiatric Disorders.
[object Object], [object Object], [object Object] · J Neuropsychiatry Clin Neurosci · 2023
PMID: 36172690Meta-Analysis
Systematic Review: Emotion Dysregulation in Syndromic Causes of Intellectual and Developmental Disabilities.
[object Object], [object Object], [object Object] et al. · J Am Acad Child Adolesc Psychiatry · 2023
PMID: 36007813Meta-Analysis
Re-visiting the 'mysterious myth of attention deficit': A systematic review of the recent evidence.
[object Object], [object Object], [object Object] et al. · J Intellect Disabil Res · 2023
PMID: 36437709Meta-Analysis
[Towards an early differential diagnosis in autism spectrum disorders and fragile X syndrome. A systematic review].
[object Object], [object Object], [object Object] et al. · Rev Neurol · 2022
Translational validity and methodological underreporting in animal research: A systematic review and meta-analysis of the Fragile X syndrome (Fmr1 KO) rodent model.
[object Object], [object Object], [object Object] et al. · Neurosci Biobehav Rev · 2022
PMID: 35690123Meta-Analysis
Search all PubMed articles for Fragile X syndrome
Research data from MEDLINE/PubMed
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormal vocalization
Very frequent (80-99%)HP:0002167
Chronic ear infection
Very frequent (80-99%)HP:0000389
Fallen arches
Very frequent (80-99%)HP:0001763
Folate-dependent fragile site at Xq28
Very frequent (80-99%)HP:0003564
Large testis
Very frequent (80-99%)HP:0000053
Loose-jointedness
Very frequent (80-99%)HP:0001382
Moderate mental retardation
Very frequent (80-99%)HP:0002342
Central hypotonia
Frequent (30-79%)HP:0001252
Childhood attention deficit/hyperactivity disorder
Frequent (30-79%)HP:0007018
Decreased transverse dimension of face
Frequent (30-79%)HP:0000275
Delayed gross motor development
Frequent (30-79%)HP:0002194
Enlarged mandible
Frequent (30-79%)HP:0000303
Frontal protuberance
Frequent (30-79%)HP:0002007
Gastro-esophageal reflux
Frequent (30-79%)HP:0002020
Hyperactive behaviour
Frequent (30-79%)HP:0000752
Hyperplasia of forehead
Frequent (30-79%)HP:0002003
Large head
Frequent (30-79%)HP:0000256
Macrotia
Frequent (30-79%)HP:0000400
Otitis media
Frequent (30-79%)HP:0000388
Poor eye contact
Frequent (30-79%)HP:0000817
Prominent ear
Frequent (30-79%)HP:0000411
Recurrent hand flapping
Frequent (30-79%)HP:0100023
Scoliosis
Frequent (30-79%)HP:0002650
Self-biting
Frequent (30-79%)HP:0012169
Sinus disease
Frequent (30-79%)HP:0000246
Speech and language difficulties
Frequent (30-79%)HP:0000750
Trouble sleeping
Frequent (30-79%)HP:0002360
Vertical enlargement of face
Frequent (30-79%)HP:0000276
Ascending tubular aorta aneurysm
Occasional (5-29%)HP:0004970
Autism
Occasional (5-29%)HP:0000717
Quick Facts
- SNOMED CT
- 613003
- UMLS CUI
- C0016667
- Fully Specified Name
- Fragile X syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.