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 31 - 40 of 128 in total
Gene ID Gene Symbol Description Source
3703 STT3A STT3 oligosaccharyltransferase complex catalytic subunit A
3897 L1CAM L1 cell adhesion molecule
3955 LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
4047 LSS lanosterol synthase
4056 LTC4S leukotriene C4 synthase
4247 MGAT2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase
4329 ALDH6A1 aldehyde dehydrogenase 6 family member A1
5048 PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1
5160 PDHA1 pyruvate dehydrogenase E1 subunit alpha 1
5226 PGD phosphogluconate dehydrogenase

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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