Changes in the MED12 gene can cause a number of clinical features associated with the following conditions:
- FG syndrome: developmental delay, intellectual disability, unique behavior, low tone, large head size, anomalies affecting the brain, heart, kidneys, and intestines. Individuals can have recognizable facial features including a tall forehead, downgoing appearance to their eyes, small ears, and broad thumbs.
- Lugan syndrome: developmental delay, intellectual disability, low tone, brain anomalies, large head, and tall stature. Individuals can have recognizable facial features including a long face, prominent nose, and high roof of the mouth.
- X-linked Ohdo syndrome: developmental delay and intellectual disability are typical. Individuals can have recognizable facial features includes small eye openings and a coarse appearance to their face.
- Nonsyndromic intellectual disability: some individuals with a significant change in the MED12 gene can have developmental delay and intellectual disability without other clinical features suggestive of one of the known syndromes associated with changes in the MED12 gene.