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GTR Home > Conditions/Phenotypes > Intellectual disability, autosomal dominant 29

Intellectual disability, autosomal dominant 29

Synonyms
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 29

Summary

SETBP1 haploinsufficiency disorder (SETBP1-HD) is characterized by hypotonia and mild motor developmental delay; intellectual abilities ranging from normal to severe disability; speech and language disorder; behavioral problems (most commonly attention/concentration deficits and hyperactivity, impulsivity), and refractive errors and strabismus. Typically children with SETBP1-HD whose intellect is in the normal or borderline range (IQ 80-90) were diagnosed following genetic testing for behavioral problems and/or severe speech and language disorders (respectively: the inability to produce sounds in words correctly, and deficits in the understanding and/or expression of words and sentences). To date, 47 individuals with SETBP1-HD have been reported. [from GeneReviews]

Available tests

16 tests are in the database for this condition.

Clinical tests (16 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: MRD29, SEB, SETBP1
    Summary: SET binding protein 1

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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