primary autosomal recessive microcephaly 5

Summary
Synonym
  • MCPH5
Definition
A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the ASPM gene on chromosome 1q31.
Super Class
primary autosomal recessive microcephaly
Disease Ontology
DOID:0070280
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
259266 ASPM assembly factor for spindle microtubules
Related Glycoprotein

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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