Coffin-Lowry syndrome

Summary
Definition
A syndrome that is characterized by skeletal malformations, growth retardation, hearing deficit, paroxysmal movement disorders, and cognitive impairment in affected males and some carrier females, and has_material_basis_in mutation in the RSK2 gene on chromosome Xp22.
Super Class
X-linked dominant disease syndrome
External Links
Disease Ontology
DOID:3783
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 4 entries
Gene ID Gene Symbol Description Source
5160 PDHA1 pyruvate dehydrogenase E1 subunit alpha 1
8630 HSD17B6 hydroxysteroid 17-beta dehydrogenase 6
11141 IL1RAPL1 interleukin 1 receptor accessory protein like 1
54675 CRLS1 cardiolipin synthase 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