Van Esch-O'Driscoll syndrome

Summary
Synonym
  • MRXSVEOD
  • VEODS
  • X-linked intellectual disability, Van Esch type
  • X-linked syndromic mental retardation Van Esch-O'Driscoll type
Definition
A syndromic X-linked intellectual disability characterized by variable degrees of intellectual disability, moderate to severe short stature, microcephaly, hypogonadism, and variable congenital malformations that has_material_basis_in hemizygous mutation in the POLA1 gene on chromosome Xp22.1-p21.3.
Super Class
X-linked recessive disease syndromic X-linked intellectual disability
External Links
Disease Ontology
DOID:0111840
Mondo Disease Ontology
ORDO
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
5422 POLA1 DNA polymerase alpha 1, catalytic subunit
Displaying 1 entry
Gene ID Gene Symbol Description Source
855621 POL1 DNA-directed DNA polymerase alpha catalytic subunit POL1

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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: August 19, 2024