MED13L syndrome (Asadollahi-Rauch syndrome) 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 (~20%)
- 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%)