Mental Retardation, Autosomal Recessive 36

What is Mental Retardation, Autosomal Recessive 36?

Also known as Intellectual disability-strabismus syndrome, this rare genetic syndrome presents with intellectual disability and esotropia (which causes both eyes to turn inward).

What gene changes cause Mental Retardation, Autosomal Recessive 36?

Changes in the ADAT3 gene are responsible for causing the syndrome.

It is inherited in an autosomal recessive pattern.

What are the main symptoms of Mental Retardation, Autosomal Recessive 36?

Among the main symptoms of the syndrome is moderate to severe intellectual disability. This is also accompanied by behavior issues, including hyperactivity and aggression.

Esotropia (inward facing eyes) is a main symptom of the syndrome. Other facial and physical features include a small head as well as low muscle tone and a stiffness of the muscles (spasticity). Individuals generally have delayed and restricted growth and are underweight with a short stature.

Some affected individuals also present with cysts and atrophy of parts of the brain.

How does someone get tested for Mental Retardation, Autosomal Recessive 36?

The initial testing for Mental Retardation, Autosomal Recessive 36, 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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FDNA Telehealth is a leading digital health company that provides faster access to accurate genetic analysis.

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