Non-neoplastic features in 146 CMMRD patients
| Feature | Number of individuals |
|---|---|
| Café au lait spots or area of skin hyperpigmentation | 91 |
| Café au lait spots and other signs reminiscent of NF1 | 27 |
| Area of skin hypopigmentation | 9 |
| Mild defects in immunoglobulin class switch recombination: IgG2↓ and/or IgG4↓ and/or IgA↓ and/or IgM↑ | 12 |
| Agenesis of the corpus callosum with and without grey matter heterotopia | 4 |
| Cavernous brain haemangioma | 3 |
| Capillary haemangioma of skin | 2 |
| Combination of congenital malformations (asplenia, left isomerism, ventricle septum defect) | 1 |
| Lupus erythematosus | 2 |
CMMRD, constitutional mismatch repair deficiency.