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MIRAGE
primary autosomal recessive microcephaly 14

Summary
Synonym
  • MCPH14
Definition
A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the SASS6 gene on chromosome 1p21.
Super Class
primary autosomal recessive microcephaly
Disease Ontology
DOID:0070279
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
163786 SASS6 SAS-6 centriolar assembly protein
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q6UVJ0 Spindle assembly abnormal protein 6 homolog
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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: December 8, 2025