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 1 - 10 of 38 in total
HPO ID HPO Term
HP:0001265 Hyporeflexia
HP:0001249 Intellectual disability
HP:0003487 Babinski sign
HP:0000540 Hypermetropia
HP:0001310 Dysmetria
HP:0008944 Distal lower limb amyotrophy
HP:0001258 Spastic paraplegia
HP:0000483 Astigmatism
HP:0001290 Generalized hypotonia
HP:0007256 Abnormal pyramidal sign
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