Mondo Description Any de Barsy syndrome in which the cause of the disease is a mutation in the PYCR1 gene.

Uniprot Description A disorder characterized by an aged appearance with distinctive facial features, sparse hair, ophthalmologic abnormalities, intrauterine growth retardation, and cutis laxa.

Disease Ontology Description An autosomal recessive cutis laxa type III that has_material_basis_in homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25.