The clinical features of this disease include:
- Delayed motor development
- Delayed bone age
- Microcephaly
- Short stature
- Facial dysmorphia (including epicanthal folds, hypertelorism, short nose, and low-set ears)
- Generalized hypotonia
- Intellectual disability
- Speech impairment
- With or without Craniosynostosis
A range of musculoskeletal deformities including:
- Scoliosis
- Platyspondyly
- Coxa deformity
- Genu deformity
- Short femoral neck
- Cupped and frayed metaphysis
- Small carpal bones
- Small fourth metatarsals and the resulting overriding of toes
CT of the brain may reveal asymmetry of cerebral hemispheres, asymmetric prominent lateral ventricles with squaring off of the frontal horns and mild thinning of the anterior body of the corpus callosum.