ADNP, also known as Activity Dependent Neuroprotective Protein, is a rare neurodevelopmental disorder caused by mutations encompassing the ADNP gene on chromosome 20. Clinically, ADNP syndrome is characterized by intellectual disability and global developmental delay. This study seeks to characterize ADNP-related neurodevelopmental disorders using a number of genetic, medical and neuropsychological measures.
Eligible participants must have a documented variant affecting the ADNP gene that the research team determines to be likely or definitely pathogenic.
Eligible participants must be at least 2 years of age.
none
Individuals for this cohort study will be selected from any population, provided that they have a variant in the ADNP gene and meet eligibility requirements.
Cohort
Cross-sectional
Not listed
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Icahn School of Medicine at Mount Sinai
Lead sponsor
The Seaver Foundation
Collaborator
Autism Science Foundation
Collaborator
Research Foundation for Mental Hygiene, Inc.
Collaborator
