Mental Retardation, Autosomal Dominant 6, with or without seizures

What is Mental Retardation, Autosomal Dominant 6, with or without seizures?

It is a rare neurodevelopmental disorder defined by intellectual disability, low muscle tone and behavioral issues. It affects mainly the nervous system of the body.

What gene changes cause Mental Retardation, Autosomal Dominant 6, with or without seizures?

Changes to the GRIN2B gene are responsible for causing the syndrome.

The syndrome is inherited in an autosomal dominant pattern.

What are the main symptoms of Mental Retardation, Autosomal Dominant 6, with or without seizures?

The main symptoms of the syndrome affect the neurodevelopment of affected individuals as well as their nervous system (brain and spinal cord). Neurological issues are a main symptom of the syndrome including mild to severe intellectual disability and delayed development of speech and language and motor skills. In some individuals affected by the syndrome this means never learning to speak and/or walk. Individuals may also have issues with their cognitive abilities- affecting how they learn, their memory and their behavior (around ¼ of those with the syndrome are also diagnosed with autism spectrum disorder). Many individuals also suffer from sleep issues and difficulties.

How does someone get tested for Mental Retardation, Autosomal Dominant 6, with or without seizures?

The initial testing for Mental Retardation, Autosomal Dominant 6, with or without seizures can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow.

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.

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What is FDNA Telehealth?

FDNA Telehealth is a leading digital health company that provides faster access to accurate genetic analysis.

With a hospital technology recommended by leading geneticists, our unique platform connects patients with genetic experts to answer their most pressing questions and clarify any concerns they may have about their symptoms.

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Our seamless process begins with an initial online diagnosis by a genetic counselor and follows by consultations with geneticists and genetic testing.

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