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References OMIM Gene GeneReviews HGMD HGNC
last update : 18-09-2017
Symbol MRD41
Location 3q26.32
Name mental retardation, autosomal dominant 41
Corresponding gene TBL1XR1
Main clinical features
  • global developmental delay, early-onset spastic paraparesis, intellectual disability and autistic features with infantile spasms
  • West syndrome with Rett-like features, together with autistic features
  • Genetic determination autosomal dominant
    Related entries including Pierpont syndrome (OMIM: 602342)
    Function/system disorder mental retardation
    Type disease