hereditary spastic paraplegia 90B

Summary
Synonym
  • SPG90B
  • autosomal recessive spastic paraplegia 90B
Definition
A hereditary spastic paraplegia characterized by motor impairment and progressive lower limb spasticity that has_material_basis_in homozygous mutation in the SPTSSA gene on chromosome 14q13.1.
Super Class
autosomal dominant disease hereditary spastic paraplegia
Disease Ontology
DOID:0070460
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
171546 SPTSSA serine palmitoyltransferase small subunit A

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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