Most common features reported in patients with MED13L syndrome (Asadollahi-Rauch syndrome) 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 (~20%)
- Autistic features (~20-30%)
- Abnormal findings in brain MRI (~30-45%)
- Minor facial features (~90-100%)
- Abnormal growth parameters (50%)
- Congenital heart defects (~30%)