PYCR1, pyrroline-5-carboxylate reductase 1, 5831

N. diseases: 126; N. variants: 12
Disease: Mental Retardation ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.020 GeneticVariation disease BEFREE Mutations in the PYCR1 gene cause cutis laxa with progeroid features and mental retardation. 27796797 2017
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.020 GeneticVariation disease BEFREE We describe here the clinical findings in four affected individuals in a family with geroderma osteodysplasticum with mental retardation and a homozygous mutation in PYCR1. 21204221 2011