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 71 - 80 of 85 in total
Gene ID Gene Symbol Description Source
57704 GBA2 glucosylceramidase beta 2
60481 ELOVL5 ELOVL fatty acid elongase 5
60506 NYX nyctalopin
64116 SLC39A8 solute carrier family 39 member 8
64132 XYLT2 xylosyltransferase 2
79644 SRD5A3 steroid 5 alpha-reductase 3
79868 ALG13 ALG13 UDP-N-acetylglucosaminyltransferase subunit
79944 L2HGDH L-2-hydroxyglutarate dehydrogenase
85365 ALG2 ALG2 alpha-1,3/1,6-mannosyltransferase
93589 CACNA2D4 calcium voltage-gated channel auxiliary subunit alpha2delta 4

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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