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