Category:ADNP syndrome

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<nowiki>Синдром Хельсмуртел-ван дер Аа; syndrome ADNP; Helsmoortel-Van Der Aa syndrome; Хелсмуртел-Ван дер Аа синдром; ADNP syndrom; An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of ADNP on chromosome 20q13.13.; HVDAS; MRD28; autosomal dominant mental retardation 28; Mental Retardation, Autosomal Dominant 28; HELSMOORTEL-VAN DER AA SYNDROME; HVDAS; HELSMOORTEL-VAN DER AA SYNDROME; Helsmoortel-Van der Aa syndrome; ADNP syndrome; syndrome de Helsmoortel-Van Der Aa</nowiki>
Helsmoortel-Van Der Aa syndrome 
An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of ADNP on chromosome 20q13.13.
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Instance of
  • developmental defect during embryogenesis
  • rare disease
  • class of disease
Subclass of
  • multiple congenital anomalies/dysmorphic syndrome-intellectual disability
  • genetic syndromic intellectual disability
  • autosomal dominant non-syndromic intellectual disability
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