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spinocerebellar ataxia 46

Summary
Definition
An autosomal dominant cerebellar ataxia that has_material_basis_in heterozygous mutation in the PLD3 gene on chromosome 19q13.
Super Class
autosomal dominant cerebellar ataxia
Disease Ontology
DOID:0080288
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
23646 PLD3 phospholipase D family member 3
Displaying 1 entry
Gene ID Gene Symbol Description Source
18807 Pld3 phospholipase D family member 3
Displaying 1 entry
Gene ID Gene Symbol Description Source
361527 Pld3 phospholipase D family, member 3
Displaying all 2 entries
Gene ID Gene Symbol Description Source Organism
398831 pld3.L phospholipase D family member 3 L homeolog Xenopus laevis (African clawed frog)
496432 pld3 phospholipase D family member 3 Xenopus tropicalis (tropical clawed frog)
Displaying 1 entry
Gene ID Gene Symbol Description Source
179105 F09G2.8 putative phospholipase D F09G2.8
The Human Phenotype Ontology
Displaying entries 1 - 10 of 13 in total
HPO ID HPO Term
HP:0002070 Limb ataxia
HP:0001260 Dysarthria
HP:0003677 Slowly progressive
HP:0000514 Slow saccadic eye movements
HP:0003390 Sensory axonal neuropathy
HP:0001310 Dysmetria
HP:0000006 Autosomal dominant inheritance
HP:0002066 Gait ataxia
HP:0003581 Adult onset
HP:0000639 Nystagmus
Displaying 1 entry
Gene ID Gene Symbol Description
23646 PLD3 phospholipase D family member 3
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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