Partington syndrome

Summary
Synonym
  • X-linked Russell-Silver syndrome
Definition
A syndrome characterized by intellectual disability, focal dystonia of the hands and dysarthria.
Super Class
X-linked recessive disease syndromic X-linked intellectual disability
Disease Ontology
DOID:14744
Mondo Disease Ontology
MeSH
UMLS
ORDO
OMIM
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
170302 ARX aristaless related homeobox

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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