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What is the Jubera syndrome?

Published in Genetic Disorders 1 min read

Based on available information, the question appears to have a typographical error. It is most likely asking about Joubert syndrome, not "Jubera syndrome". Assuming this correction, Joubert syndrome is a rare genetic disorder characterized by specific brain malformations.

Joubert Syndrome Explained

Joubert syndrome is characterized by abnormal brain development, specifically affecting the cerebellum and brainstem.

  • Key Features:

    • Absence or underdevelopment of the cerebellar vermis. The cerebellar vermis is a part of the brain that controls balance and coordination.
    • Malformed brainstem.
    • This syndrome is a rare genetic condition. (Reference: 19-Jul-2024)

Understanding the Impact

The malformation of the cerebellar vermis and brainstem leads to a variety of symptoms that can affect individuals differently.

  • Potential Symptoms:

    • Problems with balance and coordination
    • Developmental delays
    • Intellectual disabilities

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