clinical features
Last reviewed 01/2018
Presentation is associated with the exocrine pancreatic insufficiency.
Other clinical features include
- chronic or cyclical failure of haematopoeisis resulting in:
- neutropaenia
- pancytopaenia
- isolated thrombocytopaenia
- skeletal abnormalities
- recurrent infections
- growth retardation
- abnormal liver function
- dental abnormalities
- developmental delay