hereditary spastic paraplegia 75

Summary
Synonym
  • SPG75
  • autosomal recessive spastic paraplegia 75
  • autosomal recessive spastic paraplegia type 75
Definition
A hereditary spastic paraplegia that has_material_basis_in mutation in the MAG gene on chromosome 19q13.
Super Class
autosomal recessive disease hereditary spastic paraplegia
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
4099 MAG myelin associated glycoprotein
Displaying 1 entry
Gene ID Gene Symbol Description Source
17136 Mag myelin-associated glycoprotein
Displaying 1 entry
Gene ID Gene Symbol Description Source
29409 Mag myelin-associated glycoprotein
The Human Phenotype Ontology
Displaying entries 31 - 38 of 38 in total
HPO ID HPO Term
HP:0011463 Childhood onset
HP:0002064 Spastic gait
HP:0001252 Hypotonia
HP:0003623 Neonatal onset
HP:0000501 Glaucoma
HP:0002505 Loss of ambulation
HP:0007371 Corpus callosum atrophy
HP:0001272 Cerebellar atrophy
Displaying 1 entry
Gene ID Gene Symbol Description
4099 MAG myelin associated glycoprotein

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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