autosomal dominant intellectual developmental disorder 36

Summary
Synonym
  • MRD36
  • autosomal dominant mental retardation 36
  • autosomal dominant non-syndromic intellectual disability 36
Definition
An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PPP2R1A gene on chromosome 19q13.41.
Super Class
autosomal dominant intellectual developmental disorder
External Links
Disease Ontology
DOID:0070066
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
5518 PPP2R1A protein phosphatase 2 scaffold subunit Aalpha

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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: August 19, 2024