hereditary spastic paraplegia 9A (DOID:0110824)
Alliance: disease page
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
Alt IDs: OMIM:601162, ICD10CM:G11.4, ORDO:100990, ORDO:447753
Definition: A hereditary spastic paraplegia that has_material_basis_in autosomal dominant heterozygous mutation in the ALDH18A1 gene on chromosome 10q24.