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

For more information, please visit:

Gene Reviews