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Guidelines
MIRAGE
primary autosomal recessive microcephaly 2 with or without cortical malformations

Summary
Synonym
  • MCPH2
Definition
A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the WDR62 gene on chromosome 19q13.
Super Class
primary autosomal recessive microcephaly
Disease Ontology
DOID:0070293
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
284403 WDR62 WD repeat domain 62
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
O43379 WD repeat-containing protein 62
Displaying 1 entry
UniProt ID Protein Name Source
Q3U3T8 WD repeat-containing protein 62
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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 4, 2025