autosomal dominant intellectual developmental disorder 44

Summary
Synonym
  • MRD44
  • autosomal dominant intellectual developmental disorder 44 with microcephaly
  • autosomal dominant mental retardation 44
  • autosomal dominant non-syndromic intellectual disability 44
Definition
An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the TRIO gene on chromosome 5p15.2.
Super Class
autosomal dominant intellectual developmental disorder
Disease Ontology
DOID:0070074
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
7204 TRIO trio Rho guanine nucleotide exchange factor
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
O75962 Triple functional domain protein

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: April 7, 2025