Intellectual Developmental Disorder, Autosomal Dominant 6, with or without seizures (MRD6)

What is Intellectual Developmental Disorder, Autosomal Dominant 6, with or without seizures (MRD6)?

Intellectual Developmental Disorder, Autosomal Dominant 6, with or without seizures (MRD6) is a rare neurodevelopmental disorder defined by intellectual disability, low muscle tone, and behavioral issues. It affects mainly the nervous system of the body.

Because Mental retardation is now referred to as intellectual disability (intellectual developmental disorder), the formerly name Mental Retardation, Autosomal Dominant 6, with or without seizures, is no longer used.

What gene changes cause Intellectual Developmental Disorder, Autosomal Dominant 6, with or without seizures (MRD6)?

Changes to the GRIN2B gene are responsible for causing the syndrome.

The syndrome is inherited in an autosomal dominant pattern.

What are the main symptoms of Intellectual Developmental Disorder, Autosomal Dominant 6, with or without seizures (MRD6)?

The main symptoms of the syndrome affect the neurodevelopment of affected individuals as well as their nervous system (brain and spinal cord). Neurological issues are the main symptom of the syndrome including mild to severe intellectual disability and delayed development of speech language and motor skills. In some individuals affected by the syndrome, this means never learning to speak and/or walk. Individuals may also have issues with their cognitive abilities, affecting how they learn, their memory, and their behavior. Around ¼ of those with the syndrome are also diagnosed with autism spectrum disorder (ASD). Many individuals also suffer from sleep issues and difficulties.

Possible clinical traits/features:
Autosomal dominant inheritance, EEG abnormality, Behavioral abnormality, Intellectual disability

How is it diagnosed?

To find out if someone has a diagnosis of Intellectual Developmental Disorder, Autosomal Dominant 6, with or without seizures (MRD6), 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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