Potocki-Lupski syndrome

Summary
Synonym
  • 17p11.2 microduplication syndrome
  • chromosome 17p11.2 duplication syndrome
  • trisomy 17p11.2
Definition
A chromosomal duplication syndrome characterized by hypotonia, failure to thrive, mental retardation, pervasive developmental disorders and congenital anomalies that has_material_basis_in duplication of a region of chromosome 17p11.2.
Super Class
chromosomal duplication syndrome
Disease Ontology
DOID:0060853
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
10743 RAI1 retinoic acid induced 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
19377 Rai1 retinoic acid induced 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