Table 2.

Established disease severity scores based on the cumulative clinical scores in the three different patient cohorts.

SEVERITY SCORES	CUMULATIVE CLINICAL SCORES IN:
	Our Patients	Published Cases with Detailed Phenotypes	Published Cases with Less Detailed Phenotypes
1	1–10	<9	1–3
2	11–20	9–14	4–6
3	21–30	15–19	7–10
4	≥31	≥20	≥11

Severity score 1: the mildest manifestation of the disease; score 2: moderate; score 3: moderate-severe; score 4: the most severe manifestation of the disease.