hereditary spastic paraplegia 72B

Term ID

DOID:0070642

Synonyms

• autosomal recessive spastic paraplegia 72
• spastic paraplegia 72B

Definition

A hereditary spastic paraplegia that has_material_basis_in compound heterozygous mutation in the REEP2 gene on chromosome 5q31. https://pubmed.ncbi.nlm.nih.gov/24388663/

References

• MIM:620606
• ORDO:401849

Ontology

Human Disease   ( DOID:0070642 )