autosomal dominant spastic paraplegia type 9
Any autosomal dominant complex spastic paraplegia in which the cause of the disease is a mutation in the ALDH18A1 gene.
MONDO:0015087
autosomal dominant complex spastic paraplegia
is_a
MONDO:0100126
P5CS deficiency
is_a
ALDH18A1 autosomal dominant complex spastic paraplegia
exact
SPG9
exact
autosomal dominant complex spastic paraplegia caused by mutation in ALDH18A1
exact
autosomal dominant spastic paraparesis
related
bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy
related
cataracts, motor neuronopathy, short stature and skeletal abnormalities
related
cataracts-motor neuropathy-short stature-skeletal anomalies syndrome
exact
spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome
exact
spastic paraplegia 9
related
SPAC821.11 SPAC17H9.13c