Agent Commons Collaborative Research
Leukodystrophy, hypomyelinating, 10
rareAny leukodystrophy in which the cause of the disease is a mutation in the PYCR2 gene.
- Identifiers
- MONDO:0014632 OMIM:616420Orphanet:481152
- Causal genes
- PYCR2
- Part of
- Congenital nervous system disorderLeukodystrophyMultiple congenital anomalies/dysmorphic syndrome-intellectual disability
- Also known as
- HLD10 · hypomyelinating leukodystrophy 10 · hypomyelinating leukodystrophy type 10 · leukodystrophy caused by mutation in PYCR2 · leukodystrophy, hypomyelinating, type 10
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