Extraintestinal associations
| Extraintestinal association | Number of patients |
| Hydronephrosis/hydroureter | 3 |
| Megacystis | 3 |
| Chronic hepatitis | 2 |
| Cardiomyopathy | 2 |
| Skin abnormalities: vitiligo, angio-oedema | 2 |
| Haematological: thrombocytopenia | 2 |
| Oesophageal: Barrett’s, achalasia | 2 |
| Pancreatitis | 1 |
| Hypothyroidism | 1 |
| Cryptorchidism/retrograde ejaculation | 1 |
| Faecal incontinence | 1 |
| Chronic renal failure/hypertension | 1 |