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.
ADNP, Helsmoortel-Van Der Aa Syndrome, Autism Spectrum Disorder
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.
ADNP Syndrome: The Seaver Autism Center for Research and Treatment is Characterizing ADNP-related Neurodevelopmental Disorders Using Genetic, Medical, and Neuropsychological Measures.
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The Seaver Autism Center for Research and Treatment, New York, New York, United States, 10029
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.
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2 Years to
ALL
No
Icahn School of Medicine at Mount Sinai,
Silvia De Rubeis, Ph.D., PRINCIPAL_INVESTIGATOR, Icahn School of Medicine at Mount Sinai
Paige Siper, Ph.D., PRINCIPAL_INVESTIGATOR, Icahn School of Medicine at Mount Sinai
Alexander Kolevzon, MD, PRINCIPAL_INVESTIGATOR, Icahn School of Medicine at Mount Sinai
2026-03