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
Related Genes
Displaying entries 11 - 20 of 128 in total
Gene ID Gene Symbol Description Source
1636 ACE angiotensin I converting enzyme
1717 DHCR7 7-dehydrocholesterol reductase
1718 DHCR24 24-dehydrocholesterol reductase
1727 CYB5R3 cytochrome b5 reductase 3
1737 DLAT dihydrolipoamide S-acetyltransferase
1738 DLD dihydrolipoamide dehydrogenase
1798 DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1
2131 EXT1 exostosin glycosyltransferase 1
2132 EXT2 exostosin glycosyltransferase 2
2218 FKTN fukutin

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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