primary autosomal dominant microcephaly 18

Summary
Synonym
  • MCPH18
Definition
A primary microcephaly that has_material_basis_in heterozygous mutation in the WDFY3 gene on chromosome 4q21.
Super Class
autosomal dominant disease primary microcephaly
Disease Ontology
DOID:0070295
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
23001 WDFY3 WD repeat and FYVE domain containing 3
Displaying 1 entry
Gene ID Gene Symbol Description Source
72145 Wdfy3 WD repeat and FYVE domain containing 3

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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