primary autosomal recessive microcephaly 10

Summary
Synonym
  • MCPH10
Definition
A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the ZNF335 gene on chromosome 20q13.
Super Class
primary autosomal recessive microcephaly
Disease Ontology
DOID:0070294
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
63925 ZNF335 zinc finger protein 335
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q9H4Z2 Zinc finger protein 335

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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: April 7, 2025