Mutations in LARP7 may cause the following health conditions:
- Short stature
- Low weight
- Smaller-than-normal head (microcephaly)
- Severe intellectual disability
- Distinct facial features, including:
- Underdeveloped cheek bones (malar hypoplasia)
- Deep-set eyes
- Broad nose
- Short philtrum
- Large mouth
Other features (found in some patients):
- Abnormal lateral curvature of the spine (scoliosis) (reported in some patients)
- Thickened skin over the hands and feet
- Unstable gait
- Delayed motor development
- Anxious behaviour