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intellectual disability, autosomal dominant 29

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 intellectual disability-expressive aphasia-facial dysmorphism syndrome in which the cause of the disease is a mutation in the SETBP1 gene.

Synonyms

  • MRD29
  • SETBP1 Haploinsufficiency Disorder
  • SETBP1 disorder
  • SETBP1 intellectual disability-expressive aphasia-facial dysmorphism syndrome
  • SETBP1 related developmental delay
  • SETBP1-related disorder
  • SETBP1-related intellectual disability
  • autosomal dominant intellectual disability 29
  • autosomal dominant mental retardation 29
  • autosomal dominant non-syndromic intellectual disability 29
  • intellectual disability, autosomal dominant 29
  • intellectual disability, autosomal dominant type 29
  • intellectual disability-expressive aphasia-facial dysmorphism syndrome caused by mutation in SETBP1
  • mental retardation, autosomal dominant 29
  • mental retardation, autosomal dominant type 29
GARD Disease Summary

The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).

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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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GeneReviews

GeneReviews has an article on this condition covering diagnosis, management, and inheritance. Each article is written by one or more experts on the specific disease and is reviewed by other specialists. The article contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. The GeneReviews database is managed by the University of Washington.

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MedlinePlus

MedlinePlus has information about this condition that may include a description, frequency, causes, inheritance, and links to more information. The information is written for the public, including patients, caregivers and families. MedlinePlus is a service of the National Library of Medicine (NLM), which is part of the National Institutes of Health (NIH).

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