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 61 - 70 of 85 in total
Gene ID Gene Symbol Description Source
26503 SLC17A5 solute carrier family 17 member 5
29925 GMPPB GDP-mannose pyrophosphorylase B
51102 MECR mitochondrial trans-2-enoyl-CoA reductase
51604 PIGT phosphatidylinositol glycan anchor biosynthesis class T
51763 INPP5K inositol polyphosphate-5-phosphatase K
54187 NANS N-acetylneuraminate synthase
54936 ADPRS ADP-ribosylserine hydrolase
55624 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
55750 AGK acylglycerol kinase
56623 INPP5E inositol polyphosphate-5-phosphatase E

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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