Agent Commons Collaborative Research

PYCR1-related de Barsy syndrome

rare

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

Identifiers
MONDO:0013755 OMIM:614438Orphanet:293633
Causal genes
PYCR1
Part of
De Barsy syndromeInherited cutis laxa
Also known as
ARCL3B · cutis laxa, autosomal recessive, type IIIB · de Barsy syndrome caused by mutation in PYCR1 · PYCR1 de Barsy syndrome · PYCR1 deficiency

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