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References OMIM Gene GeneReviews HGMD HGNC
last update : 15-10-2015
Symbol HVDAS
Location 20q13.13
Name Helsmoortel-van der Aa syndrome
Corresponding gene ADNP
Other symbol(s) MRD28
Main clinical features
  • intellectual disability, autism spectrum disorder, and dysmorphic facial features
  • hypotonia, feeding problems in infancy, recurrent infections, short stature, joint laxity, and hand abnormalities
  • neuropsychiatric features were relatively common, including attention deficit/hyperactivity disorder, anxiety disorder, obsessive compulsive behavior, and stereotypic behaviors
  • Genetic determination autosomal dominant
    Function/system disorder mental retardation
    Type disease