The clinical spectrum of MED13-affected patients is variable and include:
• Neurodevelopmental delay (HP:0012758)
• Intellectual disability (HP:0001249)
• Delayed speech and language development (HP:0000750)
• Congenital heart defects (HP:0001627)
• Dysmorphic facial features (HP:0001999)
• Autistic behaviour (HP:0000729)
• Attention deficit hyperactivity disorder (HP:0007018)
• Seizure (HP:0001250)
• Visual impairment (HP:0000505)
• Abnormality of the optic nerve (HP:0000587)
• Duane anomaly (HP:0009921)
MED13