Contribution of Mendelian Disorders in a Population-Based Pediatric Neurodegeneration Cohort.

Objective: To evaluate Mendelian causes of neurodegenerative disorders in a cohort of pediatric patients.

Study Design: Patients enrolled in the Center for Applied Genomics Biobank at the Children's Hospital of Philadelphia with neurodegenerative symptoms were identified using an algorithm that consisted of including and excluding selected International Classification of Diseases, 9th and 10th edition codes. A manual chart review was then performed to abstract detailed clinical information.