Center for Brain Disease Diagnosis at the NRI (H-44396)

Natural history and molecular mechanisms of neurodevelopmental and neuropsychiatric disorders, including EBF3-related Hypotonia, Ataxia, and Delayed Development Syndrome (HADDS).

There are two goals for this study, the first is to build a deidentified database to gather information about the features seen in these disorders and how it may relate to the specific type of gene changes. The second is to collect skin or blood samples and establish cells that can grow in the laboratory to allows us to better understand both the biological role of the genes affected in these conditions, and the disease-causing mechanisms.