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 1 - 10 of 85 in total
Gene ID Gene Symbol Description Source
50 ACO2 aconitase 2
51 ACOX1 acyl-CoA oxidase 1
412 STS steroid sulfatase
427 ASAH1 N-acylsphingosine amidohydrolase 1
523 ATP6V1A ATPase H+ transporting V1 subunit A
762 CA4 carbonic anhydrase 4
1103 CHAT choline O-acetyltransferase
1545 CYP1B1 cytochrome P450 family 1 subfamily B member 1
1718 DHCR24 24-dehydrocholesterol reductase
1737 DLAT dihydrolipoamide S-acetyltransferase

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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