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 http://www.orphadata.org. Data version May 2026
Newly diagnosed with
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.
PPP2CA Pathways
PPP2CA Pathways connects families, shares strength, and supports the research community in the search for answers to Houge-Janssens Syndrome type 3.
ReNU2 United
ReNU2 United fosters collaboration, supports families, raises awareness, and advances research into RNU2-2-related neurodevelopmental disease.
Uganda Alliance of Patients Organization
Supporting patients to access quality, safe and patient-centered healthcare services.
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Clinical Trials
For a list of clinical trials in this disease area, please click here.