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MED13L

Clinical characteristics

Most common features reported in patients with Asadollahi-Rauch syndrome (MED13L haploinsufficiency syndrome or MED13L-related intellectual disability) are presented below. It is of note that not all the features are present in all patients.

  • Intellectual disability or developmental delay (100%)
    • Mean age of social smile: 2 months
    • Mean age of unaided sitting: 12 months
    • Mean age of unaided walking: 36 months
    • Mean age of first words: 47 months
  • Severe speech delay (50-100%)
  • Low muscle tone (hypotonia) (~60-80%)
  • Coordination problems (~30-40%)
  • Seizures or abnormal EEG (~16%)
  • Autistic features (~20-30%)
  • Abnormal findings in brain MRI (~30-45%)
  • Minor facial features (~90-100%)
  • Abnormal growth parameters (50%)
  • Congenital heart defects (~30%)