autosomal dominant intellectual developmental disorder 35

Summary
Synonym
  • MRD35
  • autosomal dominant mental retardation 35
  • autosomal dominant non-syndromic intellectual disability 35
Definition
An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PPP2R5D gene on chromosome 6p21.1.
Super Class
autosomal dominant intellectual developmental disorder
Disease Ontology
DOID:0070065
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
5528 PPP2R5D protein phosphatase 2 regulatory subunit B'delta

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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