Skip to main content

Table 1 Distribution of the 71 clinical cases according to the designated categories in PhenoTipsISS

From: Improving diagnosis for rare diseases: the experience of the Italian undiagnosed Rare diseases network

Categories N° of cases entered in to
PhenoTipsISS
Connective tissue disorders 7
Endocrine genetics 1
Syndromes with intellectual disabilities 34
Metabolic disorders 0
Motor neuron diseases 2
Syndromes with congenital multiple abnormalities 19
Myopathies 0
Renal diseases 8
Skeletal dysplasias 0
Systemic autoinflammatory syndromes 0
Total number of cases 71