Associated conditions may include cutis laxa and ataxia.

Deletions and mutations in this gene are associated with supravalvular aortic stenosis (SVAS) and autosomal dominant cutis laxa.

It primarily affects the connective tissue and the neuroendocrine system, giving rise to bronzed hyperpigmentation, cutis laxa of the hands and feet, bodily disproportion, severe mental retardation, and major bony deformities.

A study by Reversade et al. has shown that a mutation in PYCR1, the genetic sequence that codes for mitochondrial enzymes that break down proline, are prevalent in cases of autosomal recessive cutis laxa (ARCL), a condition very similar to De Barsy syndrome.