Browse

Explore conditions, clinical trials, and the organisations running them.

Up to: Inborn disorder of ornithine metabolism · Inborn disorder of proline metabolism

P5CS deficiency

An inborn error of proline/orinthine metabolism that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the aldehyde dehydrogenase 18 family member A1 (ALDH18A1) gene. These variants lead to a variety of neurocutaneous and motor syndromes characterized by cutis laxa, connective tissue weakness, facial dysmorphism, growth restriction, developmental delay, cataracts, hypotonia, hypertonia, and amyotrophy.

0 trials tagged with this condition →

ALDH18A1-related de Barsy syndrome 0 trials
Autosomal dominant spastic paraplegia type 9 0 trials Sub-types →
Autosomal recessive complex spastic paraplegia type 9B 0 trials
Cutis laxa, autosomal dominant 3 0 trials