hereditary spastic paraplegia 39

Term ID

DOID:0110790

Synonyms

• autosomal recessive spastic paraplegia 39
• autosomal recessive spastic paraplegia type 39
• NTE-related motor neuron disorder
• NTEMND
• spastic paraplegia due to neuropathy target esterase mutation
• spastic paraplegia due to NTE mutation
• SPG39

Definition

A hereditary spastic paraplegia that has_material_basis_in mutation in the PNPLA6 gene on chromosome 19p13. https://www.ncbi.nlm.nih.gov/pubmed/18313024

References

• GARD:4924
• ICD10CM:G11.4
• OMIM:612020
• ORDO:139480

Ontology

Human Disease   ( DOID:0110790 )