hereditary spastic paraplegia 26

Term ID

DOID:0110777

Synonyms

• autosomal recessive spastic paraplegia 26
• autosomal recessive spastic paraplegia type 26
• GM2 synthase deficiency
• SPG26

Definition

A hereditary spastic paraplegia that has_material_basis_in mutation in the B4GALNT1 gene on chromosome 12q13. https://www.ncbi.nlm.nih.gov/pubmed/23746551

References

• GARD:9587
• ICD10CM:G11.4
• OMIM:609195
• ORDO:101006

Ontology

Human Disease   ( DOID:0110777 )