Hypomyelinating leukodystrophy 10

Definition

Any leukodystrophy in which the cause of the disease is a mutation in the PYCR2 gene.

Also known as HLD10, hypomyelinating leukodystrophy type 10, leukodystrophy caused by mutation in PYCR2, leukodystrophy, hypomyelinating, 10, leukodystrophy, hypomyelinating, type 10, PYCR2 leukodystrophy, PYCR2-related microcephaly-progressive leukoencephalopathy — per MONDO

Also identified as

• DOID 0060788 per MONDO
• OMIM 616420 per MONDO
• Orphanet 481152 per MONDO
• UMLS C4225332 per MONDO