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 41 - 50 of 128 in total
Gene ID Gene Symbol Description Source
5279 PIGC phosphatidylinositol glycan anchor biosynthesis class C
5283 PIGH phosphatidylinositol glycan anchor biosynthesis class H
5291 PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta
5373 PMM2 phosphomannomutase 2
5648 MASP1 MBL associated serine protease 1
5728 PTEN phosphatase and tensin homolog
6307 MSMO1 methylsterol monooxygenase 1
6309 SC5D sterol-C5-desaturase
6390 SDHB succinate dehydrogenase complex iron sulfur subunit B
6392 SDHD succinate dehydrogenase complex subunit D

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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