congenital nystagmus

Summary
Definition
A pathologic nystagmus, present at birth, characterized by involuntary, rhythmic eye movements; oscillations are usually horizontal in direction.
Super Class
pathologic nystagmus physical disorder
External Links
Disease Ontology
DOID:9649
Mondo Disease Ontology
MeSH
UMLS
ORDO
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying entries 11 - 20 of 85 in total
Gene ID Gene Symbol Description Source
1798 DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1
1892 ECHS1 enoyl-CoA hydratase, short chain 1
2132 EXT2 exostosin glycosyltransferase 2
2571 GAD1 glutamate decarboxylase 1
2581 GALC galactosylceramidase
3074 HEXB hexosaminidase subunit beta
3295 HSD17B4 hydroxysteroid 17-beta dehydrogenase 4
3419 IDH3A isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha
3420 IDH3B isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta
3897 L1CAM L1 cell adhesion molecule

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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