hereditary spastic paraplegia 18

Term ID

DOID:0110771

Synonyms

• autosomal recessive spastic paraplegia 18
• autosomal recessive spastic paraplegia type 18
• IDMDC
• intellectual disability, motor dysfunction and joint contractures
• SPG18

Definition

A hereditary spastic paraplegia that has_material_basis_in mutation in the ERLIN2 gene on chromosome 8p11. https://www.ncbi.nlm.nih.gov/pubmed/21330303

References

• GARD:4922
• ICD10CM:G11.4
• OMIM:611225
• ORDO:209951

Ontology

Human Disease   ( DOID:0110771 )