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 51 - 60 of 85 in total
Gene ID Gene Symbol Description Source
9420 CYP7B1 cytochrome P450 family 7 subfamily B member 1
9526 MPDU1 mannose-P-dolichol utilization defect 1
10559 SLC35A1 solute carrier family 35 member A1
10682 EBP EBP cholestenol delta-isomerase
10908 PNPLA6 patatin like phospholipase domain containing 6
22934 RPIA ribose 5-phosphate isomerase A
23556 PIGN phosphatidylinositol glycan anchor biosynthesis class N
23646 PLD3 phospholipase D family member 3
25839 COG4 component of oligomeric golgi complex 4
26275 HIBCH 3-hydroxyisobutyryl-CoA hydrolase

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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