primary microcephaly

Summary
Synonym
  • true microcephaly
Definition
A microcephaly characterized by microcephaly present at birth, where the brain is small but has normal architecture, and nonprogressive mental retardation.
Super Class
microcephaly
Disease Ontology
DOID:0070297
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
11113 CIT citron rho-interacting serine/threonine kinase
57082 KNL1 kinetochore scaffold 1

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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: December 9, 2024