Research Evidence
Peer-reviewed studies linked via MeSH term "Syndrome, Laurence-Moon" from the MEDLINE/PubMed database.
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Retinitis pigmentosa in Laurence-Moon-Bardet-Biedl syndrome in India: Electronic medical records driven big data analytics: Report II.
[object Object], [object Object], [object Object] et al. · Indian J Ophthalmol · 2022
Diagnostic and Therapeutic Challenges.
[object Object], [object Object], [object Object] et al. · Retina · 2020
PMID: 30562245Case Report
[Diagnosis of Bardet-Biedl disease associated with metabolic syndrome and epileptic crisis in an adult].
[object Object], [object Object], [object Object] · Med Clin (Barc) · 2013
PMID: 23177308Case Report
Linguistic and gait disturbance in a child with Laurence-Moon-Biedl syndrome: left temporal and parietal lobe hypoplasia.
[object Object], [object Object], [object Object] et al. · Am J Phys Med Rehabil · 2004
PMID: 14709978Case Report
Development of morbid obesity after transplantation in Laurence Moon Biedle syndrome.
[object Object], [object Object], [object Object] et al. · Transplant Proc · 2003
PMID: 14612042Case Report
Laurence-Moon-Biedl syndrome with vaginal atresia.
[object Object], [object Object], [object Object] · Scand J Plast Reconstr Surg Hand Surg · 2002
PMID: 12477091Case Report
Diffuse brainstem glioma in a patient with Laurence-Moon-(Bardet-)Biedl syndrome.
[object Object], [object Object], [object Object] et al. · Pediatr Neurosurg · 2000
PMID: 11182644Case Report
Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes.
[object Object], [object Object], [object Object] et al. · J Med Genet · 2015
Search all PubMed articles for Bardet-Biedl syndrome
Research data from MEDLINE/PubMed
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Breakdown of light-sensitive cells in back of eye
Always present (100%)HP:0000556
Abnormal antitragus morphology
Very frequent (80-99%)HP:0009896
Cone-rod retinal dystrophy
Very frequent (80-99%)HP:0000548
Mental-retardation
Very frequent (80-99%)HP:0001249
Neurodevelopmental delay
Very frequent (80-99%)HP:0012758
Obesity
Very frequent (80-99%)HP:0001513
Partial syndactyly
Very frequent (80-99%)HP:0006101
Polydactyly of the hand
Very frequent (80-99%)HP:0001161
Truncal obesity apparent in childhood
Very frequent (80-99%)HP:0008915
Abnormal ERG
Frequent (30-79%)HP:0000512
Abnormal oral cavity morphology
Frequent (30-79%)HP:0000163
Abnormality of the sense of smell
Frequent (30-79%)HP:0004408
Autism
Frequent (30-79%)HP:0000717
Behavioural/Psychiatric abnormality
Frequent (30-79%)HP:0000708
Blindness
Frequent (30-79%)HP:0000618
Chorioretinal atrophy
Frequent (30-79%)HP:0000533
CKD
Frequent (30-79%)HP:0012622
Color vision defect, severe
Frequent (30-79%)HP:0000551
Decreased activity of gonads
Frequent (30-79%)HP:0000135
Decreased body height
Frequent (30-79%)HP:0004322
Decreased HDL cholesterol concentration
Frequent (30-79%)HP:0003233
Decreased visual acuity
Frequent (30-79%)HP:0007663
Dental crowding
Frequent (30-79%)HP:0000678
Depressive episode
Frequent (30-79%)HP:0000716
Difficulties with night vision
Frequent (30-79%)HP:0000662
Genitourinary dysplasia
Frequent (30-79%)HP:0000119
High arched palate
Frequent (30-79%)HP:0000218
High blood pressure
Frequent (30-79%)HP:0000822
Hypoplasia of penis
Frequent (30-79%)HP:0008736
Hypoplastic ovary
Frequent (30-79%)HP:0008724
Quick Facts
- SNOMED CT
- 5619004
- UMLS CUI
- C0023138
- Fully Specified Name
- Bardet-Biedl 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.