Term Name: | hereditary spastic paraplegia 9A |
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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. |
Ontology: | Human Disease [DOID:0110824] ( DOID:0110824 ) |