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 41 - 50 of 85 in total
Gene ID Gene Symbol Description Source
8473 OGT O-linked N-acetylglucosamine (GlcNAc) transferase
8560 DEGS1 delta 4-desaturase, sphingolipid 1
8733 GPAA1 glycosylphosphatidylinositol anchor attachment 1
8867 SYNJ1 synaptojanin 1
8869 ST3GAL5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5
9091 PIGQ phosphatidylinositol glycan anchor biosynthesis class Q
9126 SMC3 structural maintenance of chromosomes 3
9197 SLC33A1 solute carrier family 33 member 1
9254 CACNA2D2 calcium voltage-gated channel auxiliary subunit alpha2delta 2
9394 HS6ST1 heparan sulfate 6-O-sulfotransferase 1

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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