The clinical features of this disease include:
- Global developmental delay
- Intellectual disability
- Tall stature
- Scoliosis or kyphosis
- Microcephaly
- Truncal obesity
- Dysmorphic facies:
- Deep-set eyes
- Synophrys
- Bulbous nose
- Prominent cheeks
- Short stature (one patient)
- Hypothyroidism (one patient)