Paula and Bobby
Parents of Lillie
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.
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.
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Advanced artificial intelligence (AI) capabilities and technology with a 90% accuracy rate for a more accurate genetic analysis.
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We guarantee the utmost protection of all images and patient information. Your data is always safe, secure, and encrypted.