PYCR1-related de Barsy syndrome

Definition

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

Also known as ARCL3B, de Barsy syndrome caused by mutation in PYCR1, PYCR1 de Barsy syndrome, PYCR1 deficiency, pyrroline-5-carboxylate reductase 1 deficiency — per MONDO

Also identified as

• DOID 0070138 per MONDO
• OMIM 614438 per MONDO
• Orphanet 293633 per MONDO
• UMLS C3280799 per MONDO