Registry for SETD2 Neurodevelopmental Disorder

Brief description of study

The purpose of this research study is to collect different type of information about individuals affected by SETD2-neurodevelopmental disorder and their parents/guardians so that the researchers can learn more about the condition. SETD2-neurodevelopmental disorder is rare, with less than 40 individuals currently reported in the medical literature. The researchers hope to gather information regarding the syndrome and establish a clinical presentation of associated syndromes.

Clinical Study Identifier: s22-00717
Principal Investigator: John G Pappas.
Other Investigator: Rachel Bari Rabin.

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