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GRIN2B-related neurodevelopmental disorder
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    GRIN2B-related neurodevelopmental disorder

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    GRIN2B-related neurodevelopmental disorder
    Other names GRIM2B-associated disorder
    Specialty Medical genetics, Pediatry, Neurology
    Symptoms Mainly developmental delays, intellectual disabilities, craniofacial dysmorphisms, behavioural problems and muscle tone anomalies
    Complications Learning disability, communication delay, social ineption
    Usual onset Birth
    Duration Lifelong
    Causes Genetic mutation
    Diagnostic method Genetic testing and physical examination
    Prevention None
    Prognosis Medium
    Frequency Rare, only 100 cases have been described in medical literature
    Deaths -

    GRIN2B-related neurodevelopmental disorder is a rare neurodevelopmental disorder which is characterized by developmental delays and intellectual disabilities of variable degrees, muscle tone anomalies, feeding difficulties, and behavioral problems.

    Signs and symptoms

    The following list comprises most of the symptoms people with GRIN2B show:

    Less common symptoms include:

    Causes

    This condition is caused by mutations in the GRIN2B gene, located in chromosome 12.

    This gene makes instructions into how to make a protein called GluN2B, a type of NMDA receptor, which is found in brain neurons during ante-natal brain development. It is involved in correct brain development and function, regulating memory, synaptic plasticity and the ability of learning.

    Epidemiology

    Around 100 cases have been described in medical literature.


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