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MIRAGE
chromosome 16p11.2 deletion syndrome, 593-kb

Summary
Synonym
  • Proximal 16p11.2 microdeletion syndrome
Definition
A chromosomal deletion syndrome characterized by language delay and mild intellectual disability that has_material_basis_in partial deletion of a contiguous 593-kb region of chromosome 16p11.2 (chr16:29.5-30.1 Mb).
Super Class
chromosomal deletion syndrome
Disease Ontology
DOID:0070515
Mondo Disease Ontology
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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