Condition: LEUKODYSTROPHY, HYPOMYELINATING, 10


rs372781135 in MIR6741;PYCR2 gene and LEUKODYSTROPHY, HYPOMYELINATING, 10 PMID 25865492 2015 Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination.

rs886037931 in PYCR2 gene and LEUKODYSTROPHY, HYPOMYELINATING, 10 PMID 27860360 2017 Homozygous variants in pyrroline-5-carboxylate reductase 2 (PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy.