Seckel syndrome 4

Summary
Synonym
  • SCKL4
Definition
A Seckel syndrome that has_material_basis_in homozygous mutation in the CENPJ gene on chromosome 13q12.
Super Class
Seckel syndrome
Disease Ontology
DOID:0070010
Mondo Disease Ontology
OMIM

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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