Autosomal dominant spastic paraplegia type 9

MONDO:0015091

Any autosomal dominant complex spastic paraplegia in which the cause of the disease is a mutation in the ALDH18A1 gene.

Also known as: ALDH18A1 autosomal dominant complex spastic paraplegia, SPG9, autosomal dominant complex spastic paraplegia caused by mutation in ALDH18A1, cataracts-motor neuropathy-short stature-skeletal anomalies syndrome, spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome, autosomal dominant spastic paraparesis, bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy, cataracts, motor neuronopathy, short stature and skeletal abnormalities

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