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2q23.1 Microdeletion Syndrome/ MBD5

Other Names for the Disorder

  • Del(2)(q23.1)

  • Monosomy 2q23.1

  • Pseudo-Angelman syndrome

  • Chromosome 2q23.1 microdeletion syndrome

  • MBD5

Similar and Co-Occurring Diosrders

  • Mbd25-related intellectual disability

  • Kleefstra syndrome

  • Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies

  • Autism

  • Alacrima, achalasia, and mental retardation syndrome

  • Autism spectrum disorder

  • Epilepsy


  • Seizures 

  • Moderate to Severe learning Problems

  • Speech delays

  • behavior problems

  • trouble sleeping

  • Developmental delays

  • Low muscle tone

  • slow weight gain

Linked Genes

Microdeletion on Chromosome 2 

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This site is incomplete as I am working on adding more resources to it. If you need specific information,  Facebook message me and I will put it up as soon as I get time. 


Dawn Kohler and the DMKbooks Staff.

 Disclaimer: this is simply a collection of resources. Dawn Kohler and dmkbooks do not guarantee results from any of these resources and recommend researching these resources further before you and your caregiver proceed. Dawn is not a doctor or a lawyer. 

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