Targeted gene under study:

ADNP (OMIM #615873)


So far, only a few hundred people are known to be affected with ADNP-associated rare disease also known as Helsmoortel-van der Aa syndrome. It is a neurodevelopmental disorder characterised by impaired intellectual development and motor delay, autism spectrum disorder, facial dysmorphism, hypotonia, congenital heart disease, visual impairment and gastrointestinal issues. 
Epilepsy has been previously documented, although its full characterisation remains incomplete. Conversely, neuropathy has not yet been described in the literature.
We have recently diagnosed three patients with Helsmoortel-van der Aa syndrome in our centre.
This work aims to deepen our knowledge of ADNP-related disorder, to expand the associated epileptic and neurophysiological phenotype, and possibly to provide useful suggestions for clinical-therapeutic management.   

Coordinating clinicians

Susanna Rizzi –

Francesca Peluso –


IRCCS Azienda Usl di Reggio Emilia 

Specific requirements beyond clinical data and genotype data sharing:

1- Re-analysis of DNA samples: No

2- Resampling of patients: No

3- Linked to a translational/basic research project: No