hereditary spastic paraplegia 28

Summary
Synonym
  • SPG28
  • autosomal recessive spastic paraplegia 28
  • autosomal recessive spastic paraplegia type 28
Definition
A hereditary spastic paraplegia that has_material_basis_in mutation in the DDHD1 gene on chromosome 14q22.
Super Class
autosomal recessive disease hereditary spastic paraplegia
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
11196 SEC23IP SEC23 interacting protein
80821 DDHD1 DDHD domain containing 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
309010 Sec23ip SEC23 interacting protein
The Human Phenotype Ontology
Displaying entry 21 - 21 of 21 in total
HPO ID HPO Term
HP:0003477 Peripheral axonal neuropathy
Displaying 1 entry
Gene ID Gene Symbol Description
80821 DDHD1 DDHD domain containing 1

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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