Intellectual Developmental Disorder X-Linked, syndromic 102 (MRX102)

Intellectual Developmental Disorder syndromic 102
* This composite image of Mental Retardation X-Linked 102; MRX102 with pontine and cerebellar hypoplasia; MICPCH was created to help geneticists get a better analysis

What is Intellectual Developmental Disorder X-Linked, syndromic 102 (MRX102)?

Intellectual Developmental Disorder X-Linked, syndromic 102 is a rare genetic syndrome that affects multiple parts of the body. Intellectual disability is a major feature of the condition.

It is also now referred to as intellectual developmental disorder, X-linked syndromic, Snijders Blok Type.

What gene change causes Intellectual Developmental Disorder X-Linked, syndromic 102 (MRX102)?

The syndrome is caused by changes in the DDX3X gene. The condition is inherited in an X-linked pattern. However, other syndromes with Intellectual Developmental Disorder and X-linked mechanism of inheritance should be considered, up to date, there are around 56 genes described.

Syndromes inherited in an X-linked recessive pattern generally only affect males. Males only have one X chromosome, so one copy of a gene mutation causes the syndrome. Females, with two X chromosomes, only one of which will be mutated, are not likely to be affected.

Syndromes with X-linked dominant inheritance are caused by a mutation in a single copy of the gene. This mutation can occur in one of the two X chromosomes in females or in the single X chromosome in males. Symptoms are generally more severe in males than in females.

What are the main symptoms of Intellectual Developmental Disorder X-Linked, syndromic 102 (MRX102)?

  • Intellectual disability is a major symptom of the syndrome. This disability may range from mild to severe. Behavioral issues are common with the condition.
  • Low muscle tone and restricted movement or mobility development are also characteristic of the syndrome. As are seizures, specifically epilepsy.
  • Physical features of the syndrome include a cleft lip and/or palate, hearing, and vision loss.
  • Symptoms may also affect the pigmentation of the skin and trigger early puberty in affected individuals.

How is it diagnosed?

To find out if someone has a diagnosis of Intellectual Developmental Disorder X-Linked, syndromic 102 (MRX102), 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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Intellectual Developmental Disorder syndromic 102
* This composite image of Mental Retardation X-Linked 102; MRX102 with pontine and cerebellar hypoplasia; MICPCH was created to help geneticists get a better analysis

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