hereditary spastic paraplegia 9A

Term ID

DOID:0110824

Synonyms

• AD-SPG9A
• autosomal dominant complex spastic paraplegia type 9A
• autosomal dominant spastic paraplegia 9A
• Cataracts motor neuropathy-short stature-skeletal anomalies syndrome
• cataracts with motor neuronopathy, short stature and skeletal abnormalities
• spastic paraparesis with amyopathy, cataracts and gastroesophageal reflux
• spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome
• SPG9A

Definition

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

References

• ICD10CM:G11.4
• OMIM:601162
• ORDO:100990
• ORDO:447753

Ontology

Human Disease   ( DOID:0110824 )