chromosome 2p16.1-p15 deletion syndrome

Summary
Synonym
  • 2p15p16.1 microdeletion syndrome
Definition
A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 2p16.1-p15 region that is characterized by delayed psychomotor development, intellectual disability, and variable but distinctive dysmorphic features, including microcephaly, bitemporal narrowing, smooth and long philtrum, hypertelorism, downslanting palpebral fissures, broad nasal root, thin upper lip, and high palate.
Super Class
chromosomal deletion syndrome
External Links
Disease Ontology
DOID:0060415
Mondo Disease Ontology
MeSH
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