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MIRAGE
non-syndromic X-linked intellectual disability 93

Summary
Synonym
  • MRX93
  • X-linked mental retardation 93
  • X-linked mental retardation with macrocephaly
Definition
A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability and macrocephaly that has_material_basis_in hemizygous mutation in the BRWD3 gene on chromosome Xq21.1.
Super Class
X-linked recessive disease non-syndromic X-linked intellectual disability
Disease Ontology
DOID:0112045
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
254065 BRWD3 bromodomain and WD repeat domain containing 3
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q6RI45 Bromodomain and WD repeat-containing protein 3
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: February 17, 2025