Mutations in ARL14EP may cause the following health conditions:
- Global developmental delay
- Intellectual disability
- Tall stature
- Scoliosis (sideway curvature of the vertebrae) or kyphosis (outward curvature of the vertebrae)
- Abnormally small head
- Obesity
- Short stature (reported in one patient)
- Hypothyroidism (reported in one patient)
- Distinct facial features, including:
- Deep-set eyes
- Unibrow
- Bulbous nose
- Prominent cheeks