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intellectual disability, autosomal dominant 34

The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. The content has been gathered in partnership with the MONDO Disease Ontology. Please consult with a healthcare professional for medical advice and treatment.

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Disease Overview

Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the COL4A3BP gene.

Synonyms

  • COL4A3BP autosomal dominant non-syndromic intellectual disability
  • MRD34
  • autosomal dominant intellectual disability 34
  • autosomal dominant mental retardation 34
  • autosomal dominant non-syndromic intellectual disability 34
  • autosomal dominant non-syndromic intellectual disability caused by mutation in COL4A3BP
  • intellectual developmental disorder, autosomal dominant 34
  • intellectual disability, autosomal dominant 34
  • intellectual disability, autosomal dominant type 34
  • mental retardation, autosomal dominant 34
  • mental retardation, autosomal dominant type 34
OMIM

Online Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.

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