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 81 - 90 of 128 in total
Gene ID Gene Symbol Description Source
23545 ATP6V0A2 ATPase H+ transporting V0 subunit a2
23761 PISD phosphatidylserine decarboxylase
25839 COG4 component of oligomeric golgi complex 4
29925 GMPPB GDP-mannose pyrophosphorylase B
29926 GMPPA GDP-mannose pyrophosphorylase A
29954 POMT2 protein O-mannosyltransferase 2
50814 NSDHL NAD(P) dependent steroid dehydrogenase-like
51227 PIGP phosphatidylinositol glycan anchor biosynthesis class P
51763 INPP5K inositol polyphosphate-5-phosphatase K
54187 NANS N-acetylneuraminate synthase

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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