Helsmoortel-Van Der Aa Syndrome

Summary
Synonym
  • HVDAS
  • MRD28
  • autosomal dominant mental retardation 28
Definition
An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the ADNP gene on chromosome 20q13.13.
Super Class
autosomal dominant intellectual developmental disorder
Disease Ontology
DOID:0070058
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
23394 ADNP activity dependent neuroprotector homeobox
Related Glycoprotein

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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