Fig. 2

Frequency of diseases / diagnosis. A Range of patient numbers within the 2,872 diseases part of the AnDDI-Rares spectrum. The majority of diseases were found in 0–10 patients (66.5%, n = 1,907). 28% (n = 802) were found in 10–100 patients, 5.2% (n = 149) in 100–1,000 patients, and 0.4% (n = 11) in 1,000–10,000 patients. B Age range at first signs (n = 125,842). The median age at first signs is at birth (IQR = 2.5 years). The beginning of symptoms was noted within the first year of life in 67.3% of cases (n = 84,772). C Diagnostic status within the network. A confirmed diagnosis was found in 34% of cases (n = 56,515), undetermined in 27% (n = 10,923), ongoing in 19% of cases (n = 30,465), probable in 11% (n = 17,651), non-classifiable in 7% (n = 3,669) of patients, non-available in 2% (n = 3,669). D Mode of inheritance of diseases within the network. The mode of inheritance was undetermined in 46% of cases (n = 34,305), autosomal dominant in 25% of cases (n = 18,710), autosomal recessive in 11% of cases (n = 7,911), chromosomal in 10% of cases (n = 7,284), X-linked in 6% of cases (n = 4,477), suspected multifactorial in 1.3% of cases (n = 956), and mitochondrial in 0.4% of cases (n = 268). This information was optional