The four clinical features of the osteo-oto-hepato-enteric (O2HE) syndrome describe in the first patients include:
- congenital diarrhea
- cholestasis causing chronic pruritus
- bone fragility
- hearing impairment
The presence of associated learning disability or intellectual disability of various degree is pending. Not all patients present with all the main clinical features. The possibility of congenital malformations (eye and palate malformations) has been raised from unreported patients.