Helsmoortel-van der Aa syndrome

Definition:

Helsmoortel-van der Aa syndrome (HVDAS) is an autism spectrum disorder (ASD), accompanied with intellectual disability and facial dysmorphisms. It has been reported that HVDAS is caused by mutations in ADNP, a transcription factor involved in the SWI/SNF remodeling complex.

References:

[1]. Céline Helsmoortel, et al. A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP. Nat Genet. 2014 Apr;46(4):380-4. [Content Brief]

[2]. Matthew F Pescosolido, et al. Expansion of the clinical phenotype associated with mutations in activity-dependent neuroprotective protein. J Med Genet. 2014 Sep;51(9):587-9. [Content Brief]

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