Disease association ontology term - MONDO:0100126 - P5CS deficiency
Term summary
- ID
- MONDO:0100126
- Name
- P5CS deficiency
- Ontology or CV name
- Disease association
- Definition
- 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.
