The purpose of this study is to analyze patterns in individuals with hnRNP (and other) genetic variants, including their neurological comorbidities, other medical problems and any treatment. The investigators will maintain an ongoing database of medical data that is otherwise being collected for routine medical care. The investigators will also collect data prospectively in the form of questionnaires, neuropsychological assessments, motor assessments, and electroencephalography to examine the landscape of deleterious variants in these genes.
Neurodevelopmental Disorders, Intellectual Disability, Developmental Delay, Autism Spectrum Disorder, Seizures, Hypertonia, Muscle, Hypotonia
The purpose of this study is to analyze patterns in individuals with hnRNP (and other) genetic variants, including their neurological comorbidities, other medical problems and any treatment. The investigators will maintain an ongoing database of medical data that is otherwise being collected for routine medical care. The investigators will also collect data prospectively in the form of questionnaires, neuropsychological assessments, motor assessments, and electroencephalography to examine the landscape of deleterious variants in these genes.
Longitudinal Study of Neurogenetic Disorders
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Columbia University Irving Medical Center, New York, New York, United States, 10032
Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.
For general information about clinical research, read Learn About Studies.
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ALL
No
Columbia University,
Jennifer M. Bain, MD, PhD, PRINCIPAL_INVESTIGATOR, Columbia University
2030-12