Hypomyelinating leukodystrophy 4

MONDO:0012824

Any leukodystrophy in which the cause of the disease is a mutation in the HSPD1 gene.

Also known as: HLD4, HSPD1 leukodystrophy, MitCHAP60 disease, Pelizaeus-Merzbacher-like disease due to HSPD1 mutation, hypomyelinating leukodystrophy type 4, leukodystrophy caused by mutation in HSPD1, leukodystrophy, hypomyelinating, type 4, mitochondrial HSP60 chaperonopathy

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