neurooculocardiogenitourinary syndrome

Summary
Synonym
  • NOCGUS
Definition
A syndrome characterized by impaired growth and anomalies of the ocular, craniofacial, neurologic, cardiovascular, genitourinary, skeletal, and gastrointestinal systems that has_material_basis_in heterozygous mutation in the WDR37 gene on chromosome 10p15.3.
Super Class
autosomal dominant disease syndrome
External Links
Disease Ontology
DOID:0111675
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
22884 WDR37 WD repeat domain 37
Displaying 1 entry
Gene ID Gene Symbol Description Source
207615 Wdr37 WD repeat domain 37

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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