autosomal dominant intellectual developmental disorder 46

Summary
Synonym
  • autosomal dominant mental retardation 46
Definition
An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the KCNQ5 gene on chromosome 6q14.
Super Class
autosomal dominant intellectual developmental disorder
Disease Ontology
DOID:0080237
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
56479 KCNQ5 potassium voltage-gated channel subfamily Q member 5

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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