autosomal dominant intellectual developmental disorder 21

Summary
Synonym
  • MRD21
  • autosomal dominant mental retardation 21
  • autosomal dominant non-syndromic intellectual disability 21
Definition
An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CTCF gene on chromosome 16q22.1.
Super Class
autosomal dominant intellectual developmental disorder
Disease Ontology
DOID:0070051
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
10664 CTCF CCCTC-binding factor

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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: December 9, 2024