ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder

From BugSigDB


An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of ADNP on chromosome 20q13.13.
Aliases
  • ADNP syndrome
  • ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
  • autosomal dominant intellectual disability 28
  • autosomal dominant mental retardation 28
  • Helsmoortel-VAN DER AA syndrome
  • HVDAS
  • intellectual disability, autosomal dominant 28
  • mental retardation, autosomal dominant 28
  • MRD28