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Genetic bone disease 8

Genetic cardiac disease 3

Genetic developmental defect during embryogenesis 12

Genetic endocrine disease 1

Genetic eye disease 7

Genetic gastroenterological disease 3

Genetic hematologic disease 15

Genetic hepatic disease 4

Genetic immune disease 5

Genetic muscular disease\Muscular dystrophies 12

Genetic muscular disease\Myopathies and cardiomyopathies 4

Genetic muscular disease\Myotonic disorders 3

Genetic neurological disorder 14

Genetic neurological disorder\Ataxias 10

Genetic neurological disorder\Epilepsy and Seizures 12

Genetic neurological disorder\Intellectual Disabilities 21

Genetic neurological disorder\Neurodegenerative diseases 20

Genetic neurological disorder\Neuromuscular diseases 7

Genetic neurological disorder\Polyneuropathies 4

Genetic neurological disorder\Prion diseases 1

Genetic renal disease 5

Genetic respiratory disease 3

Genetic skin disease 5

Genetic systemic or rheumatologic disease 1

Genetic tumor / neoplasia 1

Inborn errors of metabolism 17

Rare genetic diseases in general 4

Undiagnosed diseases with proven genetic origin 1