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Standards Ontologies Notations
Galloway-Mowat syndrome

Summary
Definition
A syndrome that is characterized by developmental delay, progressive microcephaly, cerebral and cerebellar atrophy with extrapyramidal involvement, and optic atrophy.
Super Class
syndrome
Disease Ontology
DOID:0080694
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
Related Genes
Displaying all 3 entries
Gene ID Gene Symbol Description Source
55746 NUP133 nucleoporin 133
57122 NUP107 nucleoporin 107
79693 YRDC yrdC N6-threonylcarbamoyltransferase domain containing
Displaying all 3 entries
Gene ID Gene Symbol Description Source
57773 Wdr4 WD repeat domain 4
103468 Nup107 nucleoporin 107
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