Ontological phenotype standards for neurogenetics.

  title={Ontological phenotype standards for neurogenetics.},
  author={Sebastian K{\"o}hler and Sandra C. Doelken and Ana Rath and S{\'e}gol{\`e}ne Aym{\'e} and Peter N. Robinson},
  journal={Human mutation},
  volume={33 9},
Neurological disorders comprise one of the largest groups of human diseases. Due to the myriad symptoms and the extreme degree of clinical variability characteristic of many neurological diseases, the differential diagnosis process is extremely challenging. Even though most neurogenetic diseases are individually rare, collectively, the subgroup of neurogenetic disorders is large, comprising more than 2,400 different disorders. Recently, increasing efforts have been undertaken to unravel the… CONTINUE READING
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