Autosomal dominant spastic paraplegia type 9
Autosomal dominant spastic paraplegia type 9
Definition
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, 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, SPG9 — per MONDO