Warburg micro syndrome

Summary
Synonym
  • WARBM
  • Warburg-Sjo-Fledelius syndrome
  • micro syndrome
Definition
A syndrome characterized by severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis or hypoplasia of the corpus callosum and hypogenitalism.
Super Class
autosomal recessive disease syndrome
Disease Ontology
DOID:0060237
MeSH
UMLS
ORDO
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
98732 Rab3gap2 RAB3 GTPase activating protein subunit 2

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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