chromosome 15q13.3 microdeletion syndrome

Summary
Synonym
  • 15q13.3 microdeletion syndrome
Definition
A chromosomal deletion syndrome that is characterized by intellectual dsability, developmental delay, autism spectrum disorder and seizure, has_material_basis_in autosomal dominant inheritance of partial deletion of the long arm of chromosome 15.
Super Class
chromosomal deletion syndrome
Disease Ontology
DOID:0060394
Mondo Disease Ontology
MeSH
ORDO
OMIM
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying all 4 entries
Gene ID Gene Symbol Description Source
4308 TRPM1 transient receptor potential cation channel subfamily M member 1
80036 TRPM3 transient receptor potential cation channel subfamily M member 3
140803 TRPM6 transient receptor potential cation channel subfamily M member 6
161725 OTUD7A OTU deubiquitinase 7A
Displaying 1 entry
Gene ID Gene Symbol Description Source
17364 Trpm1 transient receptor potential cation channel, subfamily M, member 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
361586 Trpm1 transient receptor potential cation channel, subfamily M, member 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: December 9, 2024