Intellectual Developmental Disorder, Autosomal Dominant 5 (MRD5)

What is Intellectual Developmental Disorder, Autosomal Dominant 5 (MRD5)?

Intellectual Developmental Disorder, Autosomal Dominant 5 is a rare genetic syndrome characterized by severe intellectual disability.

Because Mental retardation is now referred to as intellectual disability (intellectual developmental disorder), former name: Mental Retardation, Autosomal Dominant 5; MRD5 is no longer in use.

What gene changes cause Intellectual Developmental Disorder, Autosomal Dominant 5 (MRD5)?

Changes in the SYNGAP1 are responsible for the syndrome;

The syndrome so far has been identified only as a de novo, or new mutation.

What are the main symptoms of Intellectual Developmental Disorder, Autosomal Dominant 5 (MRD5)?

MRD5 is primarily characterized by severe intellectual disability and delayed psychomotor development, impacting physical, cognitive, social, and emotional growth. These signs are typically evident within the first few years of life. Additionally, individuals with this syndrome are often diagnosed with autism spectrum disorder (ASD) and may experience seizures.

In some cases, a small head is also a feature of the syndrome.

Possible clinical traits/features:
Microcephaly, Epileptic encephalopathy, Intellectual disability, Language impairment, Muscular hypotonia, Motor delay, EEG abnormality, Developmental regression, Autosomal dominant inheritance, Torticollis, Seizure, Autistic behavior, Global developmental delay.

How does someone get tested?

To find out if someone has a diagnosis of Intellectual Developmental Disorder, Autosomal Dominant (MRD5), 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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