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Table 1 Distribution of cases between disease groups with the corresponding success rate

From: The added value of WES reanalysis in the field of genetic diagnosis: lessons learned from 200 exomes in the Lebanese population

Pathologies Number of patients presenting the pathology Number of patients with established molecular diagnosis Percentage of patients with established molecular diagnosis (%)
Neurodevelopmental disorders 79 24 30.4
Neuromuscular disorders 20 17 85
Metabolic and mitochondrial disorders 19 16 84.2
Renal disorders 10 6 60
Hearing disorders 7 7 100
Epilepsy 6 4 66.7
Bone diseases 4 3 75
Leukodystrophy 4 3 75
Visual disorders 2 2 100
Others 49 30 61.2
Total 200 112 56