Home Page
References OMIM Gene GeneReviews HGMD HGNC
last update : 18-09-2017
Symbol MRD42
Location 1p36.33
Name mental retardation, autosomal dominant 4
Corresponding gene GNB1
Main clinical features
  • neurodevelopmental disorder characterized by global developmental delay and intellectual disability; more variable features include hypotonia, often later associated with limb hypertonia, seizures of various types, and poor overall growth
  • Genetic determination autosomal dominant
    Function/system disorder mental retardation
    Type disease