Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted (MRXS99F)

What is Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted (MRXS99F)?

Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted 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.

Because Mental retardation is now referred to as intellectual disability (intellectual developmental disorder), formerly name Mental Retardation, X-Linked 99, Syndromic, Female-Restricted is no longer used.

What gene changes cause Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted (MRXS99F)?

Changes to the USP9X gene cause the syndrome.

It is inherited in an X-linked recessive pattern.

What are the main symptoms of Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted (MRXS99F)?

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 is it diagnosed?

To find out if someone has a diagnosis of Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted (MRXS99F), it is important to have a consultation and evaluation with a clinical genetic specialist.  Specialists may also suggest specific genetic testing or other types of tests to help reach a diagnosis.  FDNA’s AI technology can help speed up the diagnostic process by analyzing facial features and other health information.

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