Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 29920
Gene Symbol: PYCR2
PYCR2
0.010 GeneticVariation disease BEFREE The characteristic clinical presentation of patients with PYCR2 mutations included failure to thrive, microcephaly, craniofacial dysmorphism, progressive psychomotor disability, hyperkinetic movements, and axial hypotonia with variable appendicular spasticity. 27130255 2016