Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 29920
Gene Symbol: PYCR2
PYCR2
Autosomal Recessive Primary Microcephaly
0.300 GermlineCausalMutation ORPHANET Homozygous variants in pyrroline-5-carboxylate reductase 2 (PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy. 27860360

2017