PYCR1-related de Barsy syndrome
MONDO:0013755Any de Barsy syndrome in which the cause of the disease is a mutation in the PYCR1 gene.
Also known as: ARCL3B, PYCR1 de Barsy syndrome, PYCR1 deficiency, de Barsy syndrome caused by mutation in PYCR1, pyrroline-5-carboxylate reductase 1 deficiency, autosomal recessive cutis laxa type IIIB, cutis laxa, autosomal recessive, type 3B, cutis laxa, autosomal recessive, type IIIB
0 clinical trials for this condition and its sub-types, 0 tagged with PYCR1-related de Barsy syndrome itself.
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