hereditary spastic paraplegia 6

Term ID

DOID:0110811

Synonyms

• autosomal dominant familial spastic paraplegia type 3
• autosomal dominant spastic paraplegia 6
• autosomal dominant spastic paraplegia type 6
• FSP3
• SPG6

Definition

A hereditary spastic paraplegia that is usually characterized by rapidly progressive and severe spastic paraplegia and has_material_basis_in mutation in the NIPA1 gene on chromosome 15q11.2. https://www.ncbi.nlm.nih.gov/pubmed/14508710

References

• ICD10CM:G11.4
• OMIM:600363
• ORDO:100988

Ontology

Human Disease   ( DOID:0110811 )