hereditary spastic paraplegia 50

Term ID

DOID:0110802

Synonyms

• adaptor protein complex 4 deficiency
• AP-4 deficiency syndrome
• AP-4-Associated Hereditary Spastic Paraplegia
• autosomal recessive spastic paraplegia 50
• CPSQ3
• SPG50

Definition

A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4M1 gene on chromosome 7q22.1. (2)

References

• MIM:612936
• ORDO:280763

Ontology

Human Disease   ( DOID:0110802 )