PGM3, phosphoglucomutase 3, 5238

N. diseases: 85; N. variants: 13
Disease: Desbuquois syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0432242
Disease: Desbuquois syndrome
Desbuquois syndrome 		0.010 GeneticVariation disease BEFREE Through exome sequencing, we identified a novel homozygous mutation (c.1135T>C; p.Phe379Leu) in PGM3 in two siblings with bone marrow failure, severe combined immunodeficiency, renal and intestinal malformations, and a skeletal dysplasia resembling Desbuquois dysplasia. 28543917 2017