autosomal recessive spinocerebellar ataxia 18

Summary
Synonym
  • SCAR18
Definition
An autosomal recessive cerebellar ataxia that is characterized by delayed psychomotor development, severely impaired gait due to cerebellar ataxia, ocular movement abnormalities, and intellectual disability and that has_material_basis_in homozygous mutation in the GRID2 gene on chromosome 4q22.
Super Class
autosomal recessive cerebellar ataxia
Disease Ontology
DOID:0080042
Mondo Disease Ontology
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
2895 GRID2 glutamate ionotropic receptor delta type subunit 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
14804 Grid2 glutamate receptor, ionotropic, delta 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
79220 Grid2 glutamate ionotropic receptor delta type subunit 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
33683 Ir25a Ionotropic receptor 25a
Displaying 1 entry
Gene ID Gene Symbol Description Source
448841 grid2 glutamate receptor, ionotropic, delta 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: December 9, 2024