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Standards Ontologies Notations
Guidelines
MIRAGE
primary autosomal recessive microcephaly

Summary
Synonym
  • MCPH
Definition
A primary microcephaly characterized by microcephaly present at birth, where the brain is small but has normal architecture, and nonprogressive mental retardation that has_material_basis_in an autosomal recessive mutation.
Super Class
autosomal recessive disease primary microcephaly
Disease Ontology
DOID:0070296
Mondo Disease Ontology
ORDO
GARD
Related Genes
Displaying entry 11 - 11 of 11 in total
Gene ID Gene Symbol Description Source
284403 WDR62 WD repeat domain 62
Related Glycoprotein
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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: April 6, 2026