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 21 - 30 of 85 in total
Gene ID Gene Symbol Description Source
4099 MAG myelin associated glycoprotein
4125 MAN2B1 mannosidase alpha class 2B member 1
4126 MANBA mannosidase beta
4668 NAGA alpha-N-acetylgalactosaminidase
4758 NEU1 neuraminidase 1
4907 NT5E 5'-nucleotidase ecto
4952 OCRL OCRL inositol polyphosphate-5-phosphatase
5130 PCYT1A phosphate cytidylyltransferase 1A, choline
5160 PDHA1 pyruvate dehydrogenase E1 subunit alpha 1
5373 PMM2 phosphomannomutase 2

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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