Galloway-Mowat syndrome 1

Summary
Synonym
  • Galloway syndrome
  • SCAR5
  • autosomal recessive spinocerebellar ataxia 5
  • microcephaly, hiatal hernia and nephrotic syndrome
  • nephrosis-microcephaly syndrome
  • nephrosis-neuronal dysmigration syndrome
Definition
A Galloway-Mowat syndrome that has_material_basis_in homozygous mutation in the WDR73 gene on chromosome 15q25.
Super Class
Galloway-Mowat syndrome autosomal recessive disease
Disease Ontology
DOID:0060364
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
55746 NUP133 nucleoporin 133
Displaying 1 entry
Gene ID Gene Symbol Description Source
234865 Nup133 nucleoporin 133

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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