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MED13L

Clinical characteristics

Asadollahi-Rauch syndrome (MED13L haploinsufficiency syndrome or MED13L-related intellectual disability) presents with the following features:

Neurodevelopmental features

  • 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%)
  • Hypotonia (~60-80%)
  • Ataxia or coordination problems (~30-40%)
  • Seizures or abnormal EEG (~16%)
  • Autistic features (~20-30%),
  • Abnormal findings in cerebral MRI (~30-45%)

Minor facial features (~90-100%)

  • Broad/prominent forehead (~75%)
  • Bitemporal narrowing (~20-50%)
  • Low set ears (~50%)
  • Horizontal eyebrows (~20-30%)
  • Upslanting palpebral fissures (~30-60%)
  • Depressed/flat nasal bridge (~60-85%)
  • Bulbous nose (~70-80%)
  • Hypotonic open mouth (~60-80%)
  • Macroglossia (~30%)
  • Abnormal chin (micro-/pro-/retro-gnathia) (~55%)

Abnormal growth parameters (~50%)

Congenital heart defects (~30%)