Mental Retardation, Autosomal Dominant 5

What is Mental Retardation, Autosomal Dominant 5?

It is a rare genetic syndrome, MRD5, characterized by severe intellectual disability.

What gene changes cause Mental Retardation, Autosomal Dominant 5?

Changes in the SYNGAP1 are responsible for the syndrome;

The syndrome so far has been identified only as a de novo, or new mutation.

What are the main symptoms of Mental Retardation, Autosomal Dominant 5?

The main symptoms of MRD5 include severe intellectual disability and delayed psychomotor development. This affects a child’s physical, cognitive and social and emotional development. These symptoms are usually identified in the first years of an affected individuals life. Individuals with the syndrome are also often diagnosed as also having autism spectrum disorder as well as seizures.

In some cases a small head is also a feature of the syndrome.

How does someone get tested for Mental Retardation, Autosomal Dominant 5?

The initial testing for Mental Retardation, Autosomal Dominant 5 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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"Our road to a rare disease diagnosis was a 5-year journey that I can only describe as trying to take a road trip with no map. We didn’t know our starting point. We didn’t know our destination. Now we have hope."


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Parents of Lillie

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.

Benefits of FDNA Telehealth


Our platform is currently used by over 70% of geneticists and has been used to diagnose over 250,000 patients worldwide.


FDNA Telehealth provides facial analysis and screening in minutes, followed by fast access to genetic counselors and geneticists.

Ease of Use

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

Accuracy & Precision

Advanced artificial intelligence (AI) capabilities and technology with a 90% accuracy rate for a more accurate genetic analysis.

Value for

Faster access to genetic counselors, geneticists, genetic testing, and a diagnosis. As fast as within 24 hours if required. Save time and money.

Privacy & Security

We guarantee the utmost protection of all images and patient information. Your data is always safe, secure, and encrypted.

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