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Related Experiment Videos

Johanson-Blizzard syndrome with normal intelligence.

J B Moeschler, M S Lubinsky

    American Journal of Medical Genetics
    |September 1, 1985
    PubMed
    Summary
    This summary is machine-generated.

    This study presents two siblings with Johanson-Blizzard syndrome (JBS) who exhibit normal intelligence. The findings suggest no clear phenotypic predictors for intellectual outcomes in JBS patients.

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    Area of Science:

    • Genetics and rare diseases
    • Pediatric neurology
    • Human development

    Background:

    • Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive disorder.
    • JBS is characterized by specific physical anomalies and developmental challenges.
    • Intellectual disability is a common feature, but its variability is not well understood.