Mutations in the RSPRY1 gene may cause the following signs and symptoms:
- Developmental delay
- Delayed bone development
- Intellectual disability
- Speech impairment
- Microcephaly (smaller than normal head)
- Short stature
- Facial dysmorphia
- Scoliosis (sideway twisting of the spine)
- Flattening of the vertebral bones
- Deformity of the hips
- Deformity of the knee joints
- Shortened leg bones
- Shortened foot bones causing overriding of toes
- CT imaging of the brain may reveal an abnormality with the structure of the brain.
RSPRY1-related disorder has a very early onset: from birth or early infancy.