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.