Autosomal dominant spastic paraplegia type 9

rare

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

Identifiers: MONDO:0015091 Orphanet:100990
Part of: P5CS deficiency Autosomal dominant complex spastic paraplegia
Also known as: ALDH18A1 autosomal dominant complex spastic paraplegia · autosomal dominant complex spastic paraplegia caused by mutation in ALDH18A1 · autosomal dominant spastic paraparesis · bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy · cataracts, motor neuronopathy, short stature and skeletal abnormalities

Subtypes

Disease	ID	Subtypes
Autosomal dominant complex spastic paraplegia type 9B	MONDO:0018644
Hereditary spastic paraplegia 9A	MONDO:0011006

Rare disease

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