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The Phenotypic Impact of a Mendelian Disease Scoring System

Specialty:

Genetics

Objective:

ICD-10:

Description:

Hayes et al developed a scoring system to measure the phenotypic impact of a Mendelian disease on the affected person, including the impact on biological selection, development and social adaptation. It can be used to determine the impact of therapeutic interventions. The authors are from McGill and the Johns Hopkins Universities.

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