Mental Retardation, X-Linked 99, Syndromic, Female-Restricted

What is Mental Retardation, X-Linked 99, Syndromic, Female-Restricted?

It is a rare genetic syndrome, also known as a neurodevelopmental disorder which affects the intellectual ability as well as the psychomotor development of affected individuals. Symptoms are usually present from birth. Due to its mode of inheritance it is more common in females.

What gene changes cause Mental Retardation, X-Linked 99, Syndromic, Female-Restricted?

Changes to the USP9X gene cause the syndrome.

It is inherited in an X-linked recessive pattern.

What are the main symptoms of Mental Retardation, X-Linked 99, Syndromic, Female-Restricted?

The main symptoms of the syndrome include mild to moderate intellectual disability. This is also accompanied by delayed psychomotor development, affecting the physical skills development and the development of the social and emotional skills of an affected individual.

Individuals with the syndrome may also present with mild cardiac and brain anomalies.

Symptoms are varied and can affect multiple parts of the body including the digestive, endocrine, immune, genitourinary, respiratory, musculoskeletal and nervous systems.

How does someone get tested for Mental Retardation, X-Linked 99, Syndromic, Female-Restricted?

The initial testing for Mental Retardation, X-Linked 99, Syndromic, Female-Restricted, 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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