Diagnostic testing for Kleefstra Syndrome or any other rare genetic syndrome that may be linked to an intellectual disability can be done by:

  • Exome Sequencing

  • Whole Genome Sequencing

  • Microarray Analysis

  • FISH Analysis

Disorders to consider in the differential diagnosis of Kleefstra Syndrome are:

  • Downs Syndrome

  • Smith-Magenis Syndrome

  • Pitt-Hopkins Syndrome

  • Angelman Syndrome

  • KMT2C-associated syndrome

  • MBD5 haploinsufficiency

Indicators of Kleefstra Syndrome:

  • Low muscle tone

  • Developmental delays or intellectual disabilities

  • Unusual physical features

  • Seizures or abnormal EEG

  • Movement disorders or motor delay

  • Autism spectrum disorder

  • Psychiatric or behavior disorders

  • Nonspecific brain abnormalities

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