hereditary spastic paraplegia 52

Term ID

DOID:0110804

Synonyms

• autosomal recessive spastic paraplegia 52
• CPSQ6
• spastic quadriplegic cerebral palsy 6
• SPG52

Definition

A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4S1 gene on chromosome 14q12. https://www.ncbi.nlm.nih.gov/pubmed/21620353

References

• MIM:614067
• ORDO:280763

Ontology

Human Disease   ( DOID:0110804 )