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
Disease Ontology
DOID:10907
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying all 5 entries
Gene ID Gene Symbol Description Source
7846 TUBA1A tubulin alpha 1a
9343 EFTUD2 elongation factor Tu GTP binding domain containing 2
55755 CDK5RAP2 CDK5 regulatory subunit associated protein 2
60386 SLC25A19 solute carrier family 25 member 19
64324 NSD1 nuclear receptor binding SET domain protein 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
22154 Tubb5 tubulin, beta 5 class I
Displaying 1 entry
Gene ID Gene Symbol Description Source
40859 Sas-4 Spindle assembly abnormal 4
Displaying 1 entry
Gene ID Gene Symbol Description Source
492810 mfsd2aa MFSD2 lysolipid transporter A, lysophospholipid a

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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