ADNP syndrome

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Synonyms: ADNP-related syndromic intellectual disability-autism spectrum disorder | HVDAS | Helsmoortel-Van Der Aa Syndrome

A rare syndromic intellectual disability characterized by global developmental delay gastrointestinal problems hypotonia delayed speech behavioral and sleep problems pain insensitivity seizures structural brain anomalies dysmorphic features visual problems early tooth eruption and autistic features.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version July 2024

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ADNP syndrome?

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Advocacy Organizations

ADNP Kids Research Foundation

Advancing the awareness and understanding of ADNP Syndrome through various initiatives. Our primary focus is to support and fund research for developing treatments and drugs to combat the syndrome. Additionally, we aim to increase awareness and scientific understanding of ADNP Syndrome, promote individualized specialty care and protocols, and provide support to families.

Project CASK

VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. ​MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. ​VALUES Collaboration. Transparency. Urgency.

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Clinical Trials

For a list of clinical trials in this disease area, please click here.