microcephaly

Summary
Synonym
  • Microcephalus
  • microencephaly
Definition
A congenital nervous system abnormality that is characterized by a significantly smaller than normal head in infants.
Super Class
congenital nervous system abnormality
External Links
Disease Ontology
DOID:10907
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying entries 21 - 30 of 128 in total
Gene ID Gene Symbol Description Source
2271 FH fumarate hydratase
2530 FUT8 fucosyltransferase 8
2531 KDSR 3-ketodihydrosphingosine reductase
2571 GAD1 glutamate decarboxylase 1
2619 GAS1 growth arrest specific 1
2629 GBA1 glucosylceramidase beta 1
3155 HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase
3339 HSPG2 heparan sulfate proteoglycan 2
3340 NDST1 N-deacetylase and N-sulfotransferase 1
3383 ICAM1 intercellular adhesion molecule 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: August 19, 2024