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References OMIM Gene GeneReviews HGMD HGNC
last update : 12-06-2018
Symbol MRD50
Location 4q31.1
Name mental retardation, autosomal dominant 50
Corresponding gene NAA15
Main clinical features
  • variable levels of intellectual disability, delayed speech and motor milestones, and autism spectrum disorder
  • additionally, mild craniofacial dysmorphology, congenital cardiac anomalies, and seizures, mild intellectual disability, motor delays, and decreased growth, mild dysmorphism
  • Genetic determination autosomal dominant
    Function/system disorder mental retardation
    Type disease