chromosome 17q23.1-q23.2 deletion syndrome

Summary
Synonym
  • 17q23.1-q23.2 microdeletion syndrome
  • 17q23.1q23.2 microdeletion syndrome
Definition
A chromosomal deletion syndrome that has_material_basis_in a chromosome 17q23.1-q23.2 deletion and that is characterized by characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities.
Super Class
chromosomal deletion syndrome
External Links
Disease Ontology
DOID:0060405
Mondo Disease Ontology
ORDO
OMIM
GARD
Related Genes
Displaying all 4 entries
Gene ID Gene Symbol Description Source
1583 CYP11A1 cytochrome P450 family 11 subfamily A member 1
5048 PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1
5621 PRNP prion protein (Kanno blood group)
158326 FREM1 FRAS1 related extracellular matrix 1

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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