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MIRAGE
Seckel syndrome 2

Summary
Synonym
  • SCKL2
  • Seckel-type dwarfism 2
  • microcephalic primordial dwarfism 2
Definition
A Seckel syndrome characterized by growth retardation, microcephaly with impaired intellectual development, and a characteristic facial appearance that has_material_basis_in homozygous mutation in the RBBP8 gene on chromosome 18q11.
Super Class
Seckel syndrome
Disease Ontology
DOID:0070013
Mondo Disease Ontology
MeSH
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
5932 RBBP8 RB binding protein 8, endonuclease
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q99708 DNA endonuclease RBBP8
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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: April 7, 2025