has material basis in germline mutation in PYCR2 syndromic intellectual disability congenital nervous system disorder hypomyelinating leukodystrophy 10 https://github.com/monarch-initiative/mondo/issues/5588 https://github.com/monarch-initiative/mondo/issues/9141 https://www.malacards.org/card/leukodystrophy_hypomyelinating_10 https://www.malacards.org/card/pycr2_related_microcephaly_progressive_leukoencephalopathy leukodystrophy caused by mutation in PYCR2 MONDO:0014632 Orphanet:481152 GARD:0025008 OMIM:616420 HLD10 hypomyelinating leukodystrophy type 10 PYCR2 leukodystrophy leukodystrophy, hypomyelinating, type 10 MEDGEN:904191 DOID:0060788 leukodystrophy, hypomyelinating, 10 UMLS:C4225332 Any leukodystrophy in which the cause of the disease is a mutation in the PYCR2 gene. PYCR2-related microcephaly-progressive leukoencephalopathy multiple congenital anomalies/dysmorphic syndrome-intellectual disability leukodystrophy