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
MIM:609195
ORDO:101006

Ontology

Human Disease ( DOID:0110777 )

Relationships

is a type of: autosomal recessive disease hereditary spastic paraplegia

autosomal recessive disease hereditary spastic paraplegia Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models