hereditary spastic paraplegia 9B

Term ID

DOID:0110825

Synonyms

• autosomal recessive complex spastic paraplegia type 9B
• autosomal recessive spastic paraplegia 9B
• SPG9B

Definition

A hereditary spastic paraplegia that has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the ALDH18A1 gene on chromosome 10q24. https://www.ncbi.nlm.nih.gov/pubmed/26026163

References

• ICD10CM:G11.4
• OMIM:616586
• ORDO:447760

Ontology

Human Disease   ( DOID:0110825 )