Percentage of patients manifesting noted clinical features. Data abstracted from Spinner et al⁹⁵  from 57 patients, 40 of whom were diagnosed on the basis of clinical presentation, with an additional 17 through family screening. Similar data are tabulated by Collin et al.⁶ 

CMML, chronic myelomonocytic leukemia; EBV, Epstein-Barr virus; HPV, human papillomavirus.

Of 50 patients who underwent bone marrow biopsy.

Reflects potential ascertainment bias before clinical phenotype expanded.

Per Cohen et al.⁹² 

Of 18 women ≥35 years old, including one with a concurrent BRCA2 mutation.

Not controlled for aminoglycoside exposure for treatment of bacterial infections.

Of 43 known pregnancies.